Archive for the ‘Gene Therapy Doctor’ Category

Several years ago, I was working in the White House Office of Science and Technology Policy where I had the privilege of helping lead the effort to develop President Obamas Precision Medicine Initiativean effort that aimed to catalyze a new era of medicine where patients receive the right treatments at the right time.

On the day of the launch, a young man named Bill Elder came to visit me in my office. He had bright eyes, brown hair, and a big grin on his faceall of which was remarkable, because Bill also had a rare, deadly disease called cystic fibrosis. And at 27 years old, he was about to hit the median age of survival.

Cystic fibrosis is a progressive, genetic disease that causes frequent and difficult to treat infections, and over time, limits the ability to breathe. Growing up, Bill had been able to manage some of his symptoms with therapy and medication, but he also knew that most CF patients didnt live past their twenties. While steady advances were extending life expectancy by a few years at a time, there was no treatment that would address the root cause of his disease, and little hope that one would arrive in time to save his life.

And yet, it didbecause around the time that Bill was born, a critical alignment was emerging between CF patients and researchers. The Cystic Fibrosis Foundation, founded in 1955, had spent decades organizing the patient community and building a national patient registry. That paved the way for new researchand in 1989, a team of scientists led by now-NIH Director Francis Collins identified the gene responsible for cystic fibrosis.

One breakthrough led to the next. The Cystic Fibrosis Foundation set up a clinical trial network and funded therapeutics development and drug screening efforts to search for treatments. And it worked. In 2012, the FDA approved a new, first-of-its kind treatment that addressed the underlying cause of the disease for a small subset of CF patients.

Bill was among the first five patients to receive the drug. He took his first pill before he went to bed one night in February 2012and at about 2 a.m., he woke up with a sensation he hadnt felt in 15 years. He could breathe through both nostrils. Not only that, he could actually smell. The drug was working, and Bill realized that his future had changed overnight.

Years later, that story still floors me. Bill now expects to live a full and healthy life. While the drug that helped Bill was initially approved for only 4% of CF patients, it opened the door to a new treatment approach that is now poised to help 90% of the community.

For me, the central lesson here is that a highly organized group of patients can play a pivotal role in accelerating medical research. Today, Im on a quest to see how we can empower more patient communities to lead the fight against their own rare diseases.

The need is immense. Like cystic fibrosis, many rare diseases are deeply debilitating, if not deadly. And although they are individually rare, they are remarkably common. Experts believe there are at least 25 to 30 million Americans living with a rare disease, and roughly 400 million worldwide.

Unlike cystic fibrosis, though, for the vast majority of the worlds rare diseases treatments are not yet in sight. In fact, 95% of diseases do not have an approved treatment. The reasons are multifold: from difficulty identifying patients for studies to difficulty collecting patient data, from a lack of awareness to a lack of funding to support research.

What this means is that there are hundreds of millions of rare disease patients, half of them children, who are left with little hope. Their disorders might be every bit as threatening as a common cancer or heart diseaseor more. But for the vast majority of these diseases, the science isnt moving forward fast enough. Thirty percent of children with a rare disease die before their fifth birthday.

The good news is that we dont need to accept that kind of inequity. When patient communities have the tools and resources to organize themselves, they can dismantle the barriers to medical researchand drive progress toward treating even the rarest diseases.

In fact, this is already happening. David Fajgenbaum is a medical professor who has Multicentric Castleman disease, a rare and deadly immune disorder. Little was known about Castleman disease when Fajgenbaum was diagnosed in 2010. Patients tended to be isolated, and the research community was fractured. Fajgenbaum decided that the best hope for saving his own life would be to get the Castleman community working together.

[Image: iStock]Today, more than 1,400 patients, clinicians, and researchers are doing exactly that. Together, the Castleman Disease Collaborative Network has defined research objectives, funded projects, shared dataand deepened our understanding of the disorder. Fajgenbaum has applied those insights to his own treatment. And he has driven his disease into remission.

Other rare disease patients are building research networks and infrastructure to study their diseases. In 2007, Josh Sommer created the Chordoma Foundation, which has enabled the identification of more than 20 drug targets and launched seven clinical trials. The Tuberous Sclerosis Alliance, led by Kari Rosbeck, has enrolled more than 2,000 patients in its network and driven groundbreaking research into the disease. The list goes on.

One thing these groups have in common is the belief that they can lower the barriers to studying their diseases. Our goal at the Chan Zuckerberg Initiative is to help them.

As a first step in this project, called Rare As One, weve made grants to 30 rare disease organizations to support them in building patient-led research networks. In addition to funding, we will work to develop the internal capacity of these organizations to achieve their missions. We will encourage these groups to collaborate with one another, and develop a common body of knowledge about how best to build, sustain, and direct their networks. By working in partnership, we aim to develop a set of tools and resources that can be applied to the fight against many rare diseases.

Weve also started working directly with rare disease leaders like Brian Wallach, who is building a movement to fight amyotrophic lateral sclerosis (ALS). Together, were identifying software tools and infrastructure that could help other rare disease communities expand their reach and achieve their priorities.

Of course, there are more than 7,000 different rare diseases, and a strategy that works for one community may not always transfer to another. But in the coming years, we hope to get to the point where any group of patients will have a basic road map they can followto organize their communities, define their priorities, work directly with researchers, and advance the science of their disease.

Thats a future where fewer people are losing everything to a little-known disease for which there was no hopeful path to follow. And its a world where there are more people like Bill Elderwho, now a young doctor himself, has dedicated his life to saving others.

Tania Simoncelli, CZI Science Policy director and Rare As One project lead. For the past 20 years, Tania Simoncelli has designed advocacy strategies and policy solutions to address complex issues at the intersection of science, technology, law, and ethics.

Currently, she leads Science Policy at the Chan Zuckerberg Initiative. Previous roles include positions at the Broad Institute of MIT and Harvard, the White House Office of Science and Technology Policy, the U.S. Food and Drug Administration, and the American Civil Liberties Union. In 2013, Simoncelli was named by the journal Nature as one of 10 people who mattered for her work in spearheading the ACLUs successful Supreme Court case challenging the patenting of human genes.

Here is the original post:
Patients are leading the way in the fight against rare diseases - Fast Company

A Manchester dad who was diagnosed with breast cancer says he was left "isolated and lonely" due to the lack of support for people with the condition.

David McCallion, 55, is one of just around 390 men a year diagnosed with the condition in the UK.

He was forced to have mastectomy and undergo both chemotherapy and radiotherapy as part of his treatment.

However he says he was left feeling lonely and isolated after being "declined membership" for support groups for people with the condition as he was a man.

He says he is trying to break down taboos and increase understanding of it to help other people in his position.

David, who has two sons, builder, Ryan, 27, and communications professional, Liam, 25, with his carer wife, Julie, 54, said: "When I tell other blokes about my diagnosis, half say, 'Men don't get breast cancer,' and I lift up my shirt and say, 'Yes they do.'

"Some ask why I've had it, as if to say, 'Are you really a man?'

"I don't care what people say about that sort of thing, though. I've been married for 30 years, I have two sons and two grandkids."

After his diagnosis, he says he did not know any other male sufferers to share his experience with, so looked online.

"I tried to join a support group on Facebook," he says.

"But they sort of politely told me that because I was a man it might prevent members from opening up - so I thought it was best that I didn't join. I was effectively declined membership.

"I was made to feel like I was muscling in, but the last thing I wanted to do was jump up and down saying, 'Look at me I've got breast cancer too.'

"But if the other 389 men feel anything like I did, something needs to be done for men with breast cancer."

"I will never be the same person I was before my diagnosis because, politely speaking, I didn't realise how lonely this disease is," he continued.

"Cancer is lonely full stop. But being a man in what I call the 'pink world' of breast cancer - that's even lonelier."

David was diagnosed with gynaecomastia in 2015, a common condition causing men's breasts to become larger than normal, in April 2019. He noticed his right nipple was inverted but thought it must be related to the condition.

"I'd been seeing my GP for about a year, as I'd been struggling with anxiety after losing my mum, Joan at 91, in June 2018, after a long battle with dementia and breaking her hip," he said.

"Then, in May 2019, I was just leaving his surgery, when I lifted my jumper and said, 'What's this?'

"The doctor looked at my nipple and told me not to panic, but said that we had to rule a few things out."

He was referred to the Royal Oldham Hospital on July 10, 2019, however David said at that point he was not "overly concerned."

"I just assumed it was something to with my man boobs," he said.

Given a physical examination, a mammogram and an ultrasound scan, doctors then told him he needed a biopsy, where a sample of tissue is taken and examined more closely.

"They were able to rule out a cyst right away and 20 mins after the biopsy the doctor said that, in his opinion, there was a 99 per cent chance it was going to be cancer," said David.

"The first thing I thought was, 'How the hell am I going to tell my family?'

"My second thought was, 'How am I going to tell everybody else I have breast cancer - as a man?'"

"I didn't know whether I was coming or going - my head was completely gone," he added.

Returning to hospital with his wife on July 24, a consultant explained that David had grade two invasive ductal carcinoma, which is found in the breast duct and surrounding tissue.

According to Prevent Breast Cancer - which says 80 men die each year of the disease in the UK - it is the most common form of breast cancer in men and women.

"For the next eight minutes everything the doctor said was addressed to my wife and, in the end, I had to tell him to talk to me and not to her.

"I got quite angry, but later apologised and explained that I've got to own the breast cancer - it's mine.

"He explained that he breaks this news to women day in day out, which is why he didn't address me at first. He's been brilliant ever since, though."

He was told a full mastectomy on his right breast was the best course of action, although David asked for the surgery to be delayed until after his 30th wedding anniversary, on August 19.

"The doctor told me the goal was to cure the cancer, but they wanted to do everything possible to make sure it didn't come back," he continued.

"But it's not your 30th wedding anniversary every day and I wanted to celebrate that before the operation.

"We had a bit of a road trip, heading down to Birmingham to meet family, before spending a weekend in London."

David, who also suffers with an abdominal aortic aneurysm (AAA) - a bulge in the aorta, the main blood vessel that runs from the heart down through the chest and tummy - had a mastectomy at North Manchester General Hospital in Setpember.

He also had a lymph node removed to test for traces of cancer.

David said: "The doctors told me that having anaesthetic could raise my blood pressure and cause complications, but vascular surgeons were there as a back-up during the mastectomy.

"Julie was with me until I had to put my gown on and I gave her a quick hug and said, 'See you later.' I didn't want her to think I was worried, but with the added complication of the AAA, of course I was."

Surrounded by smiling faces when he came to from the two-hour operation, David was told his surgery had been a success.

He was not offered reconstructive surgery and said he does not want it.

After the lymph node tested positive for cancer, on October 4, David had a further 24 removed.

Luckily, none of the other lymph nodes were cancerous, but on December 5, he began a gruelling regime of chemotherapy, having treatment every week, which will finish at the end of next month.

He will then have 15 days of radiotherapy in April, before taking Tamoxifen, a hormone therapy that helps prevent the disease returning, for five to 10 years.

"The side effects have been crap," he said.

"I've had infection after infection, upset bowels and a sinus infection that has lasted for nine weeks.

"It's been a bit of a rocky ride to say the least, but people have it a lot worse than me, so I thank my lucky stars."

David also faces the prospect of his breast cancer being hereditary, as his mother had it in her eighties.

Once his treatment has finished, he will be tested for the BRCA1 and BRCA2 gene mutations, which run in families and increase the chances of developing breast, ovarian, colorectal and prostate cancer, according to the NHS.

David said: "My mum's cancer was similar to mine, so it is a concern that it could be hereditary.

"The doctors haven't given any suggestion that it is and we don't know for definite what kind of cancer Mum's was - it was so long ago - so all we can do is hope that it's not hereditary.

"I've not been tested for the BRCA1 of BRCA2 genes yet, they're waiting until after treatment.

"If I do have them, my boys will have to be checked, too, but I've told them they don't need to worry until I've been tested.

"I just hope my breast cancer is some fluke or case of bad luck and not hereditary."

As David went through his treatment, he has found out about #bluegetittoo - an awareness campaign about male breast cancer started by a woman whose partner was diagnosed.

"Not long after I was effectively declined membership of a support group, I was on the internet looking for places to talk about male breast cancer and found a Facebook page set up by Lorraine Milligan, who wanted to offer support after her partner was diagnosed.

"At the time, there were only about 11 people that had liked it, but it was great to see people talking about male breast cancer with the hashtag #bluegetittoo."

Now David is keen to make men aware that breast cancer can affect them, too, and is urging them to check themselves for tell-tale symptoms.

"Men need to talk about their health more," he said. "By the time they finally do it's often too late.

"There's a culture of checking down below for testicular cancer and that needs to be broadened to include other areas, including the chest area."

"Pick a day of the month - it could be a birthday or pay day - but pick a number and check your body once a month on that day," he continued.

"Feel your chest, look at your body and examine it properly.

"Men always turn up at the doctors late. I should have gone as soon as my inverted nipple appeared.

"A lot of people don't believe this happens, but 390 men are diagnosed with this disease every year, so male breast cancer is definitely real."

Follow this link:
Brave dad on 'loneliness' that comes with having breast cancer as a man - Manchester Evening News

Location technology is "kind of a coin toss." The FCC has given carriers until 2021 to make sure transmission locations are within 50 yards 80% of the time. Public health news is on USPS work-related injuries, a biomedical research contest, suicide-crisis centers, prostate cancer, a lucky fall, perinatal stroke, birthing plans, disparity in birth outcomes, medical clowns, chocolate's appeal, friendship and health, childhood prosthetics, and healthy beverages, as well.

The Washington Post:College Student Yeming Shen Died Of Flu In Troy, N.Y., After 911 Couldnt Track His Location.Yeming Shen called 911 on Feb. 10. He was alone in his Troy, N.Y., apartment, dying of the flu. But the garbled call was unintelligible to the operators, and police couldnt pinpoint the phones location. For 45 minutes after Shen called 911, five police officers, three firefighters and a police dog searched in vain for the student. All they had was a general area encompassing two apartment buildings. They eventually gave up without finding Shen. Six hours later, the Rensselaer Polytechnic Institute students roommate discovered his body, the Times Union first reported. (Kornfield, 2/22)

ProPublica:The Postal Service Fired Thousands Of Workers For Getting Injured While Delivering And Processing Your MailOne night in 2009, Madelaine Sattlefield lifted an 80-pound tray of letters carefully sorted by Missouri ZIP code. She had done this task thousands of times in nine years, but on this night, her arm seared with pain and went limp by her side. The tray crashed and sent envelopes cascading around her. She could barely move but immediately worried about what an injury might mean for her job. Anxiety had kicked in. I was like, what are they going to say, what are they going to do? Sattlefield said. (Jameel, 2/24)

Stat:Here Are The Contenders For STAT Madness 2020ADNA microscope. A gene therapy for bubble boy disease. The restoration of cellular activity in pig brains four hours after death. Nano-robots that might clean teeth better than flossing. These are just some of the 64 important discoveries and inventions included in this years STAT Madness, a bracket-style competition to honor the best biomedical research published in 2019. (2/24)

Stateline:As Suicide Rates Climb, Crisis Centers ExpandNationwide, most people picked up by police for a misdemeanor while in a psychiatric crisis are taken directly to a hospital emergency department, where they typically are held for hours or days, often involuntarily confined, according to emergency department surveys. Many are charged and held in jail with no mental health professional to talk to and no access to psychiatric medicines. The same goes for people with drug addiction. In the past five years, thats become a rarity in Arizona. As in other parts of the country, Arizonas crisis centers are open 24 hours, seven days a week, and everyone is accepted, regardless of whether they have health insurance. (Vestal, 2/24)

The New York Times:Debating The Value Of PSA Prostate ScreeningWeve long been schooled on the lifesaving value of early detection of a potentially deadly cancer. So when a simple blood test was introduced in 1994 that could detect the possible presence of prostate cancer, the second leading cause of cancer deaths among American men, its not hard to understand why it quickly became hugely popular. (Brody, 2/24)

The Washington Post:Synovial Chondromatosis: A Hard Fall Unmasked This Unusual And Painful ConditionIf she hadnt tripped over her neighbors dog, causing her to miss the step down into a sunken living room where she landed squarely on her left hip, Lynda Holland still might not know what was wrong. Holland scrambled to her feet, shaken and grateful she hadnt been injured: Her puffy down coat had cushioned her fall onto the hardwood floor. Then she realized the pain that had dominated her life for the previous six years had suddenly diminished. (Boodman, 2/22)

The Washington Post:Perinatal Stroke: Some Infants In Utero Lose Blood Supply To Their Brains, Causing Physical Or Cognitive Problems Later. New Therapies May Help.Nicole Dodds first noticed her son, Rowan, was having trouble using the right side of his body when he was about 6 months old. Babies typically use both hands to pick up toys and lift their chest off the floor at that age, but Rowan was mostly using his left arm and hand, keeping his right hand balled in a fist. That started a string of doctor visits. Around Rowans first birthday, doctors did an MRI and diagnosed his one-sided weakness as hemiplegia, probably caused by a stroke he sustained in utero. This surprised Dodds, since as far as she knew shed had a totally normal pregnancy and birth. (Witman, 2/22)

NBC News:She Wanted A 'Freebirth' With No Doctors. Online Groups Convinced Her It Would Be OK.For women who havent gone into labor by 42 weeks, just about every medical and birth professional recommends induction a jump-start to labor from medicines that ripen the cervix or contract the uterus. But Judith, an artist and freethinker who believes in all that hippy jazz, had a different kind of birth plan one that dismissed medical recommendations and relied on nature and intuition, that rejected a sterile hospital for a warm pool in her own home and that avoided doctors and midwives. Instead, Judith wanted to be with only her husband and her closest friend, a plan known as freebirth, or unassisted birth, by the tiny subculture of women who practice it. (Zadrozny, 2/21)

GMA:Stunning Photos Of Black Women Raises Awareness About Disparity In Birth OutcomesIt was about five years ago when Dallas-Fort Worth photographer Elaine Baca photographed her first birth. Until then, she had been primarily working weddings... According to the Centers for Disease Control and Prevention, the risk of pregnancy-related deaths for black women is 3 to 4 times higher than those of white women."It's important for people to see and understand that black women and babies who are dying in childbirth are not just statistics put out by the CDC," Baca told "GMA." (Brown, 2/24)

The Washington Post:Clowns Can Help Treatment In HospitalsMedicine is serious business. But for a growing number of patients, a trip to the hospital may include a laugh with a clown. Medical clowns health-care workers who dress up and act like clowns to help make medical procedures and hospital stays less stressful can be found around the world. The growing field relies on the age-old performance art of clowning to help lift the strain that can pervade the treatment of all-too-serious health concerns. (Blakemore, 2/22)

NBC News:Why Chocolate Is So Addicting And How To Tap Into The Health BenefitsThough chocolate is typically divided into three categories: dark, milk and white, the latter two really should just be called highly-processed interpretations of chocolate, because thats basically what they are. And its the processed sugars, salts and fats that make these varieties so tasty which is also what makes them so addictive. (Spector, 2/23)

CNN:Want To Lose More Weight? Intensive Therapy From Dietitians Can Help Older Adults, Study FindsOlder adults may have better success at losing weight if they do it with the help of intensive behavioral therapy from dietitians, a new study suggests. Intensive behavioral therapy for obesity, or IBTO, is a customized treatment that helps people change their eating and exercise behaviors through a series of one-on-one counseling sessions. (Rogers, 2/21)

NPR:How Good Friends Are Good For Your HealthLydia Denworth wants you to make more time for your friends. We don't fully appreciate our friendships, says the science writer and author of the new book Friendship: The Evolution, Biology, and Extraordinary Power of Life's Fundamental Bond. If we did, we'd take cultivating those intimate bonds as seriously as working out or eating well. Because, she writes, a new field of science is revealing that social connections play a vital role in our health. (Renken, 2/22)

The Washington Post:Children Who Need Prosthetics Can Quickly Outgrow Them And Insurers Are Reluctant To Pay For Running Legs. Nonprofits Are Helping Out.Faith Trznadel was born without a tibia bone, and when she was 10months old, doctors had to amputate her lower leg. The hardest part is the staring, the snickering, said Faiths mother, Sheila Trznadel, about how other people treated her daughter. One message to get across to people is its okay to ask questions. ... Its better to ask questions than just stare. [Its] getting rid of that stigma. (Furby, 2/23)

The New York Times:Milk And Juice Are Not As Needed As You Might ThinkIs there such a thing as a healthful beverage? In truth, theres not much of a health case to drink any beverage other than water after the age of 2 despite the marketing and advertising you might have seen on the benefits of things like dairy milk, plant-based milks, juices and more. (Carroll, 2/24)

Excerpt from:
Dying Of Flu, College Student Used Cellphone To Call 911. He Died When Police Couldn't Find His Location. - Kaiser Health News

By Jodi Helmer

When Heidi E. Godoy, D.O., gynecologic oncologist, sees new ovarian cancer patients for the first time, she starts preparing them for the likelihood their cancer will return.

Dr. Heidi E. Godoy, gynecologic oncologist

For those unfamiliar with the disease, Godoys early focus on recurrence may seem premature. But she believes that being upfront about the realities of ovarian cancer is as important as discussing the initial treatment, which is typically surgery followed by platinum-based chemotherapy.

Ovarian cancer is difficult to diagnose, increasing the odds that it wont be discovered until it reaches an advanced stage. And in 85% of late-stage ovarian cancer cases, the disease recurs, according to research published in the International Journal of Surgical Oncology.1

One of the first conversations I have with patients outlines the relapse that often happens with ovarian cancer, said Godoy, who works in private practice in New York State and is affiliated with several hospitals there. I dont want it to be a surprise if the cancer returns.

Godoy also makes it a point to reassure women living with ovarian cancer that she will be with them throughout their cancer journey. Gynecologic oncologists, she explained, generally provide complete care, from diagnosis to surgery, for cancers affecting the ovaries, uterus, cervix, vulva and vagina. Holistic care is one of the reasons she pursued the subspecialty.

When I was going through medical school, I wanted a subspecialty that provided a lot of continuity of care, Godoy recalled. In gynecologic oncology, you develop such personalized, deep relationships with your patients.

Expert, Empathetic Care

For women living with ovarian cancer, receiving treatment from a gynecologic oncologist can simplify care and provide a sense of familiarity with their treatment teams. Research published in Frontiers In Oncology2 in 2015 shows that the highly-trained medical professionals also provide positive clinical outcomes.

Gynecologic oncologists perform complex procedures such as surgical debulkinga tumor-removal procedure that often affects other organsto remove the entire tumor and improve the prognosis. They are among the only specialists that perform surgical debulking, Godoy said. While surgery and chemotherapy are well-known components of treatment plans, maintenance therapies have become meaningful options for doctors in recent years.

Ovarian cancer patients who have a response to platinum-based chemotherapy in the recurrent setting are candidates for PARP inhibitors, one of those being niraparib or ZEJULA, Godoy explained.

Those candidatespatients who recur after a first-line treatment and receive a second line of platinum-based chemotherapyreally need to have that conversation about starting maintenance therapy, she continued.

The current approach of watch-and-wait, where we take them off their chemotherapy or their cytotoxic therapy and just watch and wait to see if the cancer returns, is no longer the only option, Godoy said. Maintenance therapy has changed the paradigm of watching and waiting to see if the cancer returns.

ZEJULA, made by the pharmaceutical company GSK, is a prescription medicine used for the maintenance treatment of adults with ovarian cancer, fallopian tube cancer or primary peritoneal cancer, when the cancer comes back. ZEJULA is used after the cancer has responded (complete or partial response) to treatment with platinum-based chemotherapy. It can also be used for treatment of adults with advanced ovarian cancer, fallopian tube cancer or primary peritoneal cancer who have been treated with three or more prior types of chemotherapy and who have tumors with a certain BRCA gene mutation, or a positive laboratory test, and whose cancer was in response to treatment with platinum-based chemotherapy, and who have progressed more than six months after the last treatment. For treatment in the late-line setting, your healthcare provider will perform a test to make sure that ZEJULA is right for you.

ZEJULA has serious risks such as bone marrow problems called MDS or a type of blood cancer called AML. Low blood cell counts are common. Tell your doctor about any weakness, tiredness, infections, fever, shortness of breath, blood in urine or stool, bruising, bleeding or weight loss. High blood pressure is common and can become serious. Nausea and constipation are also common.

Benefiting From More Recent Treatment Options

The idea of maintenance therapy to treat ovarian cancer is not new, Godoy said. Until recently, however, only intravenous forms of maintenance therapy were available, which required women to receive the treatment in clinics.

More recent treatment options for ovarian cancer include oral medications, like ZEJULA, which give women the ability to take it at home. ZEJULA is taken once a day.

Women living with ovarian cancer are often surprised to learn that maintenance therapies exist, she added. For the newly diagnosed, Godoy offered important advice.

If you have ovarian cancer, ask your OB/GYN to make a referral to a gynecologic oncologist and have a meeting with them to discuss your care, she said. Learn more about current treatments, including maintenance therapy, and be your own best advocate.

Jodi Helmer writes about health, science and innovation.

Important Safety Information

ZEJULA may cause serious side effects, including:

Bone marrow problems called Myelodysplastic Syndrome (MDS) or a type of blood cancer called Acute Myeloid Leukemia (AML). Some people who have ovarian cancer and who have received previous treatment with chemotherapy or certain other medicines for their cancer have developed MDS or AML during treatment with ZEJULA. MDS or AML may lead to death.

Symptoms of low blood cell counts (low red blood cells, low white blood cells, and low platelets) are common during treatment with ZEJULA. They can be a sign of serious bone marrow problems, including MDS or AML. These symptoms may include the following:

Your doctor will do blood tests to check your blood cell counts before treatment with ZEJULA. You will be tested weekly for the first month of treatment with ZEJULA, monthly for the next 11 months of treatment, and from time to time afterward.

High blood pressure is common during treatment with ZEJULA, and it can become serious. Your doctor will check your blood pressure and heart rate at least weekly for the first two months, then monthly for the first year, and as needed thereafter during your treatment with ZEJULA.

Before starting to take ZEJULA, tell your doctor about all of your medical conditions, including if you:

Tell your doctor about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

The most common side effects of ZEJULA include the following:

o Heart not beating regularly

o Nausea

o Constipation

o Vomiting

o Pain in the stomach area

o Mouth sores

o Diarrhea

o Indigestion or heartburn

o Dry mouth

o Tiredness

o Loss of appetite

o Urinary tract infection

o Shortness of breath

o Cough

o Rash

o Changes in liver function or other blood tests

o Pain in your joints, muscles, and back

o Headache

o Dizziness

o Change in the way food tastes

o Trouble sleeping

o Anxiety

o Sore throat

o Changes in the amount or color of your urine

If you have certain side effects, then your doctor may change your dose of ZEJULA, temporarily stop, or permanently stop treatment with ZEJULA.

These are not all the possible side effects of ZEJULA. For more information, ask your doctor or pharmacist. Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

For full prescribing information visit http://www.ZEJULA.com/prescribing-information.

NP-NIR-US-0004

NRPJRNA200001

Read the original:
When Treating Women With Ovarian Cancer, Gynecologic Oncologist Emphasizes Openness And Dedication Throughout Journey - Forbes

Editor's Note: POLITICO Pulse is a free version of POLITICO Pro Health Care's morning newsletter, which is delivered to our subscribers each morning at 6 a.m. The POLITICO Pro platform combines the news you need with tools you can use to take action on the day's biggest stories. Act on the news with POLITICO Pro .

Democrats debate tonight in Las Vegas as they jockey for position in Saturdays Nevada caucuses.

President Donald Trumps health IT plan could gift Silicon Valley with troves of sensitive medical data.

Voters' top priorities remain reducing health care costs and prescription drug costs, regardless of party, according to a new POLITICO-Harvard survey.

A message from Genentech:

We have come a long way in developing breakthrough solutions for many therapeutic areas including oncology, neurology, immunology and more, but there are still thousands of molecules in our bodies that influence disease and are considered undruggable. Learn about how Genentech is identifying new approaches to expedite drug discovery.

WELCOME TO WEDNESDAY PULSE Where Joe Grogan may be in line for hazard pay after the White House domestic policy chief tweeted last night from the "occupied territory" of California. (The remark provoked frustration from watchdogs and even friendly fire from a certain Fox News host, but controversy sells: Grogan has gained nearly 10 percent more Twitter followers since yesterday.)

PULSE's tipline is open in every state: Find us at acancryn@politico.com or ddiamond@politico.com.

WHAT TO WATCH IN THE DEMOCRATIC DEBATE TONIGHT The 9 p.m. ET debate gives members of the dwindling Democratic field a primetime spotlight to make their case ahead of Saturdays election day.

Slated to be on stage: Sens. Bernie Sanders, Elizabeth Warren and Amy Klobuchar; former Vice President Joe Biden; and former Mayors Pete Buttigieg and Mike Bloomberg.

While Bloombergs surged into the race, buoyed by historic ad spending, tonight would be the first time that hes debated in an election since he ran for New York City mayor in 2009. The transition from well-heeled campaign rooms and soft-pitch TV commercials to a crowded debate stage could lead to a bumpy evening for the billionaire candidate, NYTs Matt Flegenheimer writes.

Expect BLOOMBERG to be pressed on his health care remarks. Sanders campaign has called attention to Bloombergs years-old statements about the need for entitlement reform, seemingly at odds with a Democratic primary thats focused on coverage expansion.

No program to reduce the deficit makes any sense whatsoever unless you address the issue of entitlements, Medicare, Medicaid, Social Security, interest payment on the debt, which you can't touch, and defense spending, Bloomberg said on Face the Nation in 2013. Everything else is tiny compared to that.

Both conservatives and progressives also have circulated a 2011 video clip that shows Bloomberg appearing to say that some elderly cancer patients should be turned away from care, given the cost.

SANDERS could be challenged on the prospects of "Medicare for All." Rep. Alexandria Ocasio-Cortez, one of the senators highest-profile surrogates, told HuffPost last week that a worst-case scenario with Sanders in the White House is a compromise on health care that ends up adding a public option. Some Sanders allies have acknowledged the long odds of getting his signature proposal through Congress, particularly given the likelihood that Republicans will retain control of the Senate in 2021.

But Sanders broke with Ocasio-Cortez on CNN last night, saying that his policy proposal is already a compromise and he doesnt plan to back off it.

SANDERS also reiterated: Hes not sharing any more medical records. I don't think we will, no, the 78-year-old candidate said on CNN last night. Sanders had promised to release comprehensive records after having a heart attack last year, and the apparent reversal could be a topic of conversation tonight.

Anti-Medicare expansion industry group tees up new ad buy. The Partnership for Americas Health Care Future will air a new ad during the debate criticizing Democratic candidates various universal coverage plans, the group told PULSE. The spot which will run on MSNBC and related digital properties groups Medicare for All with more incremental Medicare buy-in and public option plans, arguing that theyd all take choice and control away from patients and lead to higher taxes.

HOW TRUMP COULD HAND SILICON VALLEY YOUR HEALTH DATA A Trump administration bid to give patients more control over their health records could gift Silicon Valley with troves of sensitive medical data, POLITICOs Darius Tahir and Adam Cancryn report.

The long-germinating policy changes would let patients download health records onto their smartphones and direct it to apps of their choice. But they could also give rise to a new tech boom built on vacuuming up and reselling that personal data with few limits.

The issue has pitted GOOGLE and APPLE against EPIC, the health IT incumbent thats lobbied hard against the changes that could threaten its current market dominance. Yet lost in the clash of industry giants are privacy concerns that some consumer advocates argue the administration hasnt fully thought through. The health data is going to give them insights into many other aspects of your life, Jeff Chester, executive director of the Center for Digital Democracy, said of a tech industry already facing scrutiny over its use and protection of consumer data.

Silicon Valleys influential ally: JARED KUSHNER. The presidents son-in-law has played a crucial role in pushing the overhaul, alongside ONC Director Don Rucker and HHS Secretary Alex Azar, who see a chance to jump-start a slew of new health IT business models.

The chief financial officer at the now-shuttered Shelby Regional Medical Center admitted to a federal judge that he made false statements to CMS when he said in November 2012 the hospital was a meaningful user of EHRs that year. | M. Scott Mahaskey/POLITICO

TRUMP COMMUTES SENTENCE OF MEDICARE FRAUDSTER Judith Negron was convicted in 2011 over a $205 million fraud case that was, at the time, the biggest mental health billing scheme. Negron, who was the only defendant in the case to refuse a plea deal and go to trial, was subsequently sentenced to 35 years. See Negrons clemency petition. The Miami Herald has more.

Trump also pardoned MICHAEL MILKEN, the junk-bond king of the 1980s who was convicted of insider trading and later reinvented himself as a philanthropist and health care thought leader. The Los Angeles Times has more.

POLITICO-HARVARD POLL: ITS THE COSTS, STUPID Americans across the political spectrum primarily want one thing ahead of the 2020 election: Lower health care costs.

A new POLITICO-Harvard T.H. Chan survey finds reducing health care and prescription drug costs rank as voters top priorities regardless of party far outpacing the need for major overhauls like Medicare for All or addressing climate change. That suggests Americans are focused on immediate issues affecting their families, rather than the big policy debates that have consumed the Democratic presidential primary.

Eighty percent ranked lower health care costs as "extremely" or "very" important, and more than 7 in 10 similarly prioritized reducing drug prices. There was far less urgency for ideas like a Medicare buy-in or Medicare for All and the poll suggests even GOP voters are losing interest in the partys yearslong goal of repealing and replacing Obamacare. Just 37 percent of Republicans thought it crucial to take another run at gutting the health law.

MEANWHILE: UNIONS SPLIT OVER MEDICARE FOR ALL Organized labor is divided over the prospects for single-payer health care, with some unions worried that theyll lose health benefits that they spent years fighting to achieve, POLITICOs Ian Kullgren and Alice Miranda Ollstein report.

The feuding reached a fever pitch last week when the 60,000-member Culinary Workers Union declined to endorse any Democrat in Nevada, after slamming Sanders health proposal as a threat to the hard-won private health plans they negotiated at the bargaining table.

Its an extremely divisive issue within the labor movement, said Steve Rosenthal, a former political director for the AFL-CIO. Nobodys opinions will be changed during the presidential nominating fight, and unions may well be divided over Democratic candidates until the end.

FIRST IN PULSE: PROTECT OUR CARE TO HOLD 10 DAYS OF ACTION TIED TO OBAMACARE ANNIVERSARY The pro-ACA group is kicking off a bus tour and holding other events next month to celebrate 10 years since the health law was passed.

The bus tour begins March 15 in Minnesota and will stop in battleground states like Iowa, Michigan, North Carolina, Pennsylvania and Wisconsin. The bus will also stop in Washington, D.C., on March 23 the anniversary of the ACAs passage.

NEW SEVEN-FIGURE SURPRISE BILL AD BUY A coalition of largely insurer and employer groups is launching a new ad campaign slamming the policy fix doctors and hospitals support as one that raises costs for everyone.

The Coalition Against Surprise Medical Billing will run ads in the Washington area during prominent TV slots like the Democratic debates to oppose letting an independent mediator resolve payment disputes between providers and insurers.

The ads arent new for Beltway viewers, who often have seen the ads paired with a competing message from Doctor Patient Unity, funded largely by two private-equity backed physician staffing companies arguing for the policy insurers and employers hate.

But the new ad buy comes at a crucial time for surprise billing. Two House committees approved their own legislation last week, leaving four congressional panels to hammer out a fix before a May deadline to pass funding for key health care programs.

FIRST IN PULSE: SHARPTON RAILS AGAINST SURPRISE BILL PLAN The Rev. Al Sharpton is taking aim at major legislation to eliminate surprise medical bills in a letter to the Congressional Black Caucus, blasting a proposal backed by Senate HELP Chair Lamar Alexander and the House Energy and Commerce Committee as a bailout at the expense of Black patients.

Sharptons position puts him in line with hospitals and private equity-backed physician groups that have spent tens of millions of dollars opposing the plan, which would use a federal benchmark payment to settle most disputes between insurers and providers.

But Sharptons objections are misleading. The civil rights activist who says hes been very focused on surprise billing suggested the HELP and E&C bill would let insurers dodge paying for care and stick patients with big medical expenses.

Thats false: The legislation would establish a new system for determining how much insurers must pay providers for out-of-network costs patients couldn't have avoided, such as emergency care. And patients would enjoy new protections insulating them against huge out-of-network charges a feature of all the competing surprise bill proposals.

PAULSEN CHAIRING NEW GENE THERAPY LOBBY Former Minnesota Rep. Erik Paulsen is chairing a new lobbying group in town this one aimed at ensuring coverage for a slew of pricey new gene therapies.

The Institute for Gene Therapies isnt backing specific legislation or regulatory actions yet. But Paulsen, a Republican congressman for a decade before losing his seat in the 2018 Democratic wave, told POLITICOs Sarah Owermohle that the group is focused on steps the administration and Congress can take to accelerate insurer coverage of new treatments.

The Institute is funded by drug manufacturers. Its corporate advisory council includes multiple companies working on gene therapies including Spark Therapeutics, which sells an $850,000 treatment for a rare form of blindness. Johnson & Johnson, PTC Therapeutics and Sarepta Therapeutics are also among those on the council.

A message from Genentech:

Of the estimated 4,000 disease-related targets known to us today, only a quarter have a medicine that can reach and act on them. While some may find these elusive targets to be undruggable, our scientists are taking on this challenge along with our collaborators to pursue new treatment approaches, like T-cell therapy or individualized cancer vaccines. Learn about how were tackling challenges in drug discovery to drive scientific breakthroughs and bring new medicines to patients in our mission to drug the "undruggable."

If health economists ran the U.S. health system, there would be no Medicaid work requirements but people who engage in unhealthy behaviors could be charged more money, Austin Frakt writes in the New York Times, drawing on recent polling.

Missouri lawmakers confirmed that as many as 60,000 children were wrongfully removed from the state's Medicaid program, Joe Gamm writes for the Jefferson City News Tribune.

Meanwhile, a plan to expand Medicaid in Kansas which has the blessing of the state's GOP Senate leader is being held up by another GOP official who says she's worried about abortion spending, Leslie Aguilar reports for KCTV5.

One of the world's largest tobacco companies is struggling after failing to diversify into cannabis and vaping, WSJ's Alexander Gladstone reports.

Originally posted here:
What to watch in tonight's debate - Politico

Jeremiah started showing worrying symptoms at just five months old (Picture: Aneesa)

Jeremiah was a playful, lovable baby but when he was just five months old, mum Aneesa realised something was quite seriously wrong.

Jeremiah started to become floppy and weak, he was unable to lift his head, lie on his tummy to play, or hold his arms and legs like he used to.

He would sleep all the time and simply had no energy not even to play peek-a-boo, which is his favourite thing to do, Aneesa tells Metro.co.uk.

After many weeks of being dismissed by doctors, Aneese persevered because she just knew that something was wrong with Jeremiah. She spent all her time with him and noticed the subtle changes in his behaviour that doctors didnt see.

After finally seeing a skilled therapist, Aneesa was advised to get emergency referrals to a neurologist and a geneticist, but with the waiting times being so long, she turned to Greenwood Genetics and was seen the next day via a video consultation with a doctor.

She did a thorough exam of his body, they collected paternal and maternal data and ordered blood samples, explains Aneesa. They also tried to assist us with the other referrals to see a neurologist and of course I switched paediatricians. In our case, the swift response of Greenwoods team saved my babys life.

Katie Clarkson, MD and GGC clinical geneticist, considered several tests, but with a long list of possible diagnoses, she suggested whole-exome sequencing, a diagnostic test looking for mutations in the coding regions of all 20,000 genes.

Because of Jeremiahs rapid regression, the test that typically takes 10 weeks for a result was fast-tracked by GGCs Diagnostic Laboratory, and an answer came in fewer than three weeks. The doctors identified two changes in the TK2 gene.

This gene is known to cause mitochondrial DNA depletion syndrome, type 2 also called TK2 deficiency.

TK2 deficiency is an incurable disease that progresses quickly, causing muscle weakness, problems with chewing, swallowing, and breathing, loss of motor skills, and slowed mental development.

Aneesa was devastated to receive such a complex and life-altering diagnosis for her son.

I wanted an answer similar to the one the doctor prescribes for the cold take this pill, get some rest or maybe just a physical therapy routine, she says. Instead, I was told that there is no treatment, no cure and that your son has a rare progressive disorder.

It was overwhelming, but due to the time-sensitivity, I was grateful that we had an answer to what dreaded monster we were truly facing. I typed the name of it into Google and cried for days.

Jeremiahs illness has affected his mobility, his nutrition and his other bodily functions. He is connected to oxygen at night to make sure he is breathing, and Aneesa has to keep a suction machine close by in case he produces too much saliva.

He has been rushed to hospital for pain and new symptoms many times since his diagnosis, and sadly, the early the onset of the disease, the more severe it is likely to be, But Aneesa is just happy to have some answers.

I am thankful that Jeremiahs diagnosis was early so that he does not miss running around or doing other activities, she explains. To him, its just a lot of work to get to certain milestones regarding growth and development.

Children are resilient so the impact is cushioned as they adapt easier than we do.

Aneesas family life has changed drastically to cater to Jeremiahs needs, but Aneesa remains hopeful about their future.

We stay indoors most of the time to avoid germs as Jeremiahs immune system is not the strongest, says Aneesa. I no longer work, and I cant attend late-night football or basketball games with my other boys.

They only visit on weekends and now live with their dad. Im positive they would love to see their brother run and play with them, and we hold on to hope that one day he will.

Aneesa says that social media and online support groups have been a lifeline. As has identifying the correct treatments and seeing little improvements in Jeremiahs condition he can now move his arms and legs again, he has less reflux and less need for oxygen.

The medication has seemed to slow the monster of the disease down, says Aneesa.

She says that coping varies depending on different definitions and circumstances, but she believes she is coping.

Coping, to me, is making sure he gets all of his physical, occupation and speech therapy as well as keeping up with his medical specialists on rotations, she says.

Jeremiah sees his pediatrician, an early interventionist, his therapists, a cardiologist, a pulmonologist, a gastroenterologist, a pediatric surgeon, an orthopedic team, neurologists and of course his research team.

His resilience gives me the strength to cope for him and with him.

Ive given up my life so that I can provide the best care but also become an advocate for him and the disease. I post daily on his Facebook page Jeremiah Gracen TK2D Warrior, giving a very personal look into our new life in the hope to inspire others.

Jeremiahs medical diagnosis is a result of a collaboration between Emedgene and Greenwoods Genetic Center, the facility where Jeremiahs life-saving diagnosis was given, and where Emedgenes AI powered solution is integrated.

On average, a patient will see eight doctors before getting the correct diagnosis of TK2d. And time is of the essence. Jeremiahs disease is highly aggressive and is still regularly misdiagnosed, or even undiagnosed, for long periods of time. Experts say using AI is the key to ensuring timely diagnosis for the children who desperately need it.

I truly believe that diseases are only rare because many people are living either undiagnosed or misdiagnosed, says Aneesa.

To get a diagnosis of a rare disease is tough, to say the least, but being able to connect with others sharing similar situations helps tremendously.

Rare diseases give way to new advancements in technology, research and medicine. Rare diseases fuel parents with a sense of supernatural hope where we become medical experts learning about our tiny superheroes.

Rare diseases give room for God to perform miracles, so for us we simply hold on to hope and a firm belief that God makes no mistakes, and regardless of how clich that can sound it helps us to cope.

Just because an illness is rare doesnt mean that we will ever give up on it.

MORE: Elite Irish dancer diagnosed with agonising incurable illness battles to complete final competition

MORE: Police stage fake arrest to make dream come true for seven-year-old boy who beat cancer

MORE: Fashion school apologises for clearly racist runway show with models wearing giant lips

Continue reading here:
Mum of baby with rare incurable illness wants to raise awareness - Metro.co.uk

Significant technological advancements and societal shifts occurred during the 2010's decade. Yet many of these developments became so quickly engrained in our daily lives that they often went relatively unnoticed, and their impact all but forgotten. Over this next decade, the 2020s, we expect similar rapid and meaningful advancements to occur. Moore's law suggests that over a 10-year period, semiconductors will advance by 32 times, bringing about mesmerizing innovation in the digital age that should not only change technology but society as well. In this piece, we review the technological advancements over the last decade and anticipate what revolutionary changes may be in store for us over the next 10 years.

Mobile upgraded from 3G to 4G networks

Social Media Brought Our Lives Online

The Dawn of Genomics and Precision Medicine

Electric vehicles (EVs) became competitive with internal combustion engine (ICE) vehicles

AI and Big Data Took Off

Data storage moved to the cloud

5G becomes the new wireless standard

5G's means more than just a faster internet. It proliferates the mass-adoption of connected devices in homes, cities and enterprises, including those involved in agriculture, healthcare, manufacturing, and infrastructure. Increasingly, these industries rely on connected devices to gather and analyze data, making processes more efficient, reducing downtime, and freeing up time to focus on new products and initiatives.

The continued decline of computing costs and improvements in network infrastructure and artificial intelligence are key drivers of the emergence of edge computing - data processing conducted locally without transmission across a large network. Some technologies require instantaneous data interpretation and can't rely on networks with higher latency. Autonomous vehicles, robotic surgery, gaming, and smart factories, for example, can require near simultaneous data transmission. Edge computing reduces latency to 5-10 milliseconds from 25-35 milliseconds for early deployed 5G devices.10 A study estimates the economic impact of edge computing to reach $4.1 trillion by 2030.11

Transportation goes electric, autonomous, and shared

Shared autonomous and electric vehicles are expected to cost $0.35 per mile by 2030, less than half the cost of owning a personal sedan ($0.88 per mile).12 By 2030, new car models equipped with self-driving technology are expected to be commonplace. This transition will allow drivers to take their hands off the wheel while their vehicles drive autonomously, or to hail driverless shared robotaxis. Considering that the average American spends 18 days' worth of time driving each year, greater than the average number of vacation days per year (10 days), the productivity and leisure benefits of autonomous vehicles could be enormous.

Robotics enters new industries

Improvements in artificial intelligence and dexterity are the result of advanced 3D vision capabilities and end-of-arm tooling for precise movements. While the auto manufacturing segment remains robotics' largest end-market, emerging segments like healthcare and hospitality can benefit from smarter, more capable robots that can conduct surgery, check on patients, cook food, or deliver items to hotel rooms. Agriculture will also see a robotics-driven revolution with automated spraying, monitoring, and picking likely resulting in reduced costs and improved crop yields. The global stock of industrial robots is expected to reach 20 million by 2030, representing a 24% CAGR as robots enter more industries.13

Omnichannel-commerce: Not a zero-sum game between e-commerce and brick-and-mortar

The separation between e-commerce and brick and mortar retail will blur as digital and physical shopping experiences become one in the same. Augmented reality will give consumers the ability to try on and order clothes from the comfort of their homes, but physical stores with reduced footprints will feature unique consumer experiences, immediate purchases, and try-before-you-buy optionality. Coupled with IoT technologies that track consumer behavior and build datasets around it, and advances in AI, retailers could be able to predict consumer behavior at almost 100% accuracy. We also expect to see e-commerce as a value add for small- and mid-sized businesses, providing a medium for them to sell products outside of their locality and giving a means of accessing global consumer-bases.

As the population ages, there will be increasing pressure to reduce costs, improve patient outcomes, and optimize physicians' time. All of this is possible by leveraging telemedicine and artificial intelligence - two technologies that are set to disrupt healthcare. Telemedicine offers an alternative solution to in-person doctor visits, providing diagnostic and clinical services to patients around-the-clock, from the convenience of one's home or workplace. Currently, telemedicine utilization rates remain below 10% in the U.S., but penetration is likely to grow as technology reduces costs and adds convenience.14 Further digitalization of healthcare will also enable new use cases for AI. Recent developments like AI-driven, real-time MRI interpretation could mean enhanced diagnoses and treatments across other healthcare verticals, in addition to its use in telemedicine as an AI chatbot for triage or basic medical advice.

Advances in genomics could offer the first realistic opportunity to cure certain illnesses previously deemed fatal. Scientists have identified more than 50,000 genetic diseases caused by a single gene mutation in humans, known as Mendelian diseases. These are likely to be the first diseases treated through gene editing techniques.15 As the medical and scientific communities' understanding of gene expression and protein pathways improves and genomic sequencing costs continue to fall, we expect a vast increase in the number of tested and proven genomic therapies.

The 2010s were a decade of phenomenal innovation, led largely by the transition to mobile and the rise of data, which accelerated the growth of AI, e-commerce, social media, and biotechnology. In the 2020s, additional foundational changes will take place as data latency shortens and AI algorithms improve. Such progress should enable new technologies to flourish, including autonomous vehicles, conversational AI, the massive internet of things, and augmented and virtual reality. As new technologies are introduced to the market place, they will have a profound impact on our lives, workplaces, and even investments as they reshape the economy.

Related ETFs

BOTZ: The Global X Robotics & Artificial Intelligence ETF (NASDAQ:BOTZ) seeks to invest in companies that potentially stand to benefit from increased adoption and utilization of robotics and artificial intelligence (AI), including those involved with industrial robotics and automation, non-industrial robots, and autonomous vehicles.

SNSR: The Global X Internet of Things ETF (NASDAQ:SNSR) enables investors to access a potential high growth theme through companies at the leading edge of IoT, an approach which transcends classic sector, industry and geographic regions to target this emerging theme. In a single trade, SNSR delivers access to dozens of companies with high exposure to emerging IoT technology.

CLOU: The Global X Cloud Computing ETF (NASDAQ:CLOU) seeks to invest in companies positioned to benefit from the increased adoption of cloud computing technology, including companies whose principal business is in offering computing Software-as-a-Service (SaaS), Platform-as-a-Service (PaaS), Infrastructure-as-a-Service (IaaS), managed server storage space and data center real estate investment trusts, and/or cloud and edge computing infrastructure and hardware.

AIQ: The Global X Future Analytics Tech ETF (NASDAQ:AIQ) seeks to invest in companies that potentially stand to benefit from the further development and utilization of artificial intelligence (AI) technology in their products and services, as well as in companies that provide hardware facilitating the use of AI for the analysis of big data.

DRIV: The Global X Autonomous & Electric Vehicles ETF (NASDAQ:DRIV) seeks to invest in companies involved in the development of autonomous vehicle technology, electric vehicles ("EVs"), and EV components and materials. This includes companies involved in the development of autonomous vehicle software and hardware, as well as companies that produce EVs, EV components such as lithium batteries, and critical EV materials such as lithium and cobalt.

GNOM: The Global X Genomics & Biotechnology ETF (NASDAQ:GNOM) seeks to invest in companies that potentially stand to benefit from further advances in the field of genomic science, such as companies involved in gene editing, genomic sequencing, genetic medicine/therapy, computational genomics, and biotechnology.

SOCL: The Global X Social Media ETF (NASDAQ:SOCL) seeks to provide investment results that correspond generally to the price and yield performance, before fees and expenses, of the Solactive Social Media Total Return Index.

Footnotes

1. Ken'sTechTips, "Download Speeds: What Do 2G, 3G, 4G & 5G Actually Mean?," Nov 23, 2018.

2. Vox, "Digital advertising in the US is finally bigger than print and television," Feb 20, 2019.

3. Statista, "Number of global social network users 2010-2021," Aug 14, 2019.

4. Note: Estimates from Statista correspond to yearly averages (Statista publishes monthly or quarterly figures). Estimates from TNW correspond to the first figure provided for the corresponding year (TNW published an animation with interpolated data). Estimates for Facebook, Twitter, Instagram, WhatsApp, and Pinterest are taken from Statista. All other series come from TNW. TNW does not provide details regarding their underlying sources but our analysis suggests their estimates are consistent with primary sources and reports such as company earnings press releases, official company websites, and published articles. Statista uses monthly active users to measure social media platform usage. Statista specifies "Facebook measures monthly active users (MAUs) as users that have logged in during the past 30 days. Users are counted separately for Facebook and other apps. Statista specifies "Figures do not include Instagram or WhatsApp users unless they would otherwise qualify as such users, respectively, based on their other activities on Facebook."

5. Bloomberg, "The CRISPR revolution & hyper-personalized medicine," Jan 15, 2018.

6. BloombergNEF, "A Behind the Scenes Take on Lithium-ion Battery Prices," Mar 5, 2019.

7. Global X, "What's Driving the Electric Vehicle, Lithium, and Battery Markets in 2019?," May 21, 2019.

8. Fenner, "Alibaba's AI Outguns Humans in Reading Test

9. Bondcap, "Internet Trends 2019," Jun 11, 2019.

10. Financier Worldwide, "The emergence of edge computing," Dec 2019.

11. Chetan Sharma Consulting, "The Edge Internet Economy Forecast to be Worth Over $4.1 Trillion," Aug 21, 2019.

12. Rocky Mountain Institute, "Peak Car Ownership," 2016.

13. Oxford Economics, "How Robots Change the World," Jun 2019.

14. Teladoc, "Investor Presentation: Canaccord Growth Conference," Aug 8, 2019.

15. WIRED, "Gene Editing is Trickier Than Expected-but Fixes Are in Sight," Feb 28, 2019.

Investing involves risk, including the possible loss of principal. There is no guarantee the strategies discussed will be successful. International investments may involve risk of capital loss from unfavorable fluctuation in currency values, from differences in generally accepted accounting principles or from economic or political instability in other nations. Emerging markets involve heightened risks related to the same factors as well as increased volatility and lower trading volume. Narrowly focused investments may be subject to higher volatility. There are additional risks associated with investing in lithium and the lithium mining industry. The investable universe for thematic ETFs may be limited. The funds are non-diversified.

Healthcare, Pharmaceutical, Biotechnology and Medical Device companies can be affected by government regulations, expiring patents, rapid product obsolescence, and intense industry competition. The risks related to investing in cloud computing companies include disruption in service caused by hardware or software failure, interruptions or delays in service by third-party data center hosting facilities and maintenance providers, security breaches involving certain private, sensitive, proprietary and confidential information managed and transmitted by cloud computing companies, and privacy concerns and laws, evolving Internet regulation and other foreign or domestic regulations that may limit or otherwise affect the operations of such companies.

Investing in securities engaged in the social media industry include disruption in service caused by hardware or software failure; interruptions or delays in service by third-parties; security breaches involving certain private, sensitive, proprietary and confidential information managed and transmitted by social media companies; and privacy concerns and laws, evolving Internet regulation and other foreign or domestic regulations that may limit or otherwise affect the operations of such companies.

Information Technology companies can be affected by rapid product obsolescence, and intense industry competition. Risks include disruption in service caused by hardware or software failure; interruptions or delays in service by third-parties; security breaches involving certain private, sensitive, proprietary and confidential information managed and transmitted; and privacy concerns and laws, evolving Internet regulation and other foreign or domestic regulations that may limit or otherwise affect the operations.

Carefully consider the Funds' investment objectives, risk factors, charges, and expenses before investing. This and additional information can be found in the Funds' summary or full prospectus, which may be obtained by calling 1.888.493.8631, or by visiting globalxetfs.com. Please read the prospectus carefully before investing.

Global X Management Company LLC serves as an advisor to Global X Funds. The Funds are distributed by SEI Investments Distribution Co. (SIDCO), which is not affiliated with Global X Management Company LLC or Mirae Asset Global Investments. Global X Funds are not sponsored, endorsed, issued, sold or promoted by Solactive AG, nor does Solactive AG make any representations regarding the advisability of investing in the Global X Funds. Neither SIDCO, Global X nor Mirae Asset Global Investments are affiliated with Solactive AG.

Shares of ETFs are bought and sold at market price (not NAV) and are not individually redeemed from the Fund. Brokerage commissions will reduce returns. This information is not intended to be individual or personalized investment or tax advice and should not be used for trading purposes. Please consult a financial advisor or tax professional for more information regarding your investment and/or tax situation.

Original post

Editor's Note: The summary bullets for this article were chosen by Seeking Alpha editors.

Originally posted here:
A Decade Of Change: How Tech Evolved In The 2010s And What's In Store For The 2020s - Seeking Alpha

- Salvador Rico, M.D., Ph.D., named Chief Medical Officer

- Martin Moorhead, Ph.D., promoted to Chief Technology Officer

SOUTH SAN FRANCISCO, Calif., Feb. 11, 2020 /PRNewswire/ --Encoded Therapeutics, Inc.(Encoded), a precision gene therapy company,today announced the appointment of Salvador Rico, M.D., Ph.D., as chief medical officer and the promotion of Martin Moorhead, Ph.D., to chief technology officer. Dr. Rico joins Encoded from Audentes Therapeutics, where he led clinical development of the company's pipeline of gene therapies for neuromuscular disorders. In his three years at Encoded, Dr. Moorhead has guided the development of the company's technology platform for creating innovative AAV-based gene therapies. He previously led the development of clonoSEQ, the FDA-approved next-generation sequencing assay for detecting minimal residual disease in lymphoid malignancies, at Adaptive Biotechnologies.

"Sal is an accomplished physician-scientist with deep experience advancing novel therapeutics through clinical development, and Martin is a strong leader who brings a genomics mindset to all aspects of gene therapy development," said Encoded co-founder and chief executive officer Kartik Ramamoorthi, Ph.D."With these appointments, we now have some of the most qualified gene therapy experts in the industry with a proven track record of delivering for patients in need. Their collective experience includes bringing multiple AAV-based gene therapies through clinical development, FDA filings, and approval. I am more confident than ever that our novel gene therapies can make a major impact on patients suffering from debilitating diseases, starting with Dravet Syndrome."

At Encoded, Dr. Rico will lead medical strategy and clinical development of ETX101, which is being developed for patients with SCN1A+ Dravet Syndrome. Dr. Moorhead will lead the technical team that enables Encoded's innovative research platform.

Story continues

"I am delighted to join an organization that is so committed to transforming patients' lives with the development of next-generation gene therapies," said Dr. Rico. "I look forward to working closely with both the team at Encoded, and with the Dravet Syndrome community, to advance ETX101 through clinical development and ultimately, deliver it to patients in need."

"In building a technology platform that combines the power of genomics and computation with AAV-based gene therapy, Encoded is forging the path for the next generation of precision genetic medicines," said Dr. Moorhead. "I am very proud of what we have accomplished to date and am thrilled at the opportunity to help advance multiple programs for diseases where no treatment options currently exist."

New Leadership Team Appointments

Salvador Rico, M.D. Ph.D.: Dr. Rico brings over 15 years of clinical research experience in the biopharmaceutical industry. Prior to joining Encoded, he served as senior vice president of clinical development at Audentes Therapeutics, an innovator in neuromuscular gene therapies that was recently acquired by Astellas, Inc. While there, Dr. Rico led the clinical development of AT132, an AAV-based gene therapy for X-Linked Myotubular Myopathy, participated in the design, conduct, and analysis of Phase I-IV clinical trials in multiple therapeutic areas, and successfully contributed to the FDA approval of multiple drugs, biological products, and medical devices including the INTERCEPT Blood System, Intermezzo, Hibor, Champix, Prolia, Kerydin, and others. Prior to joining Audentes, he led the clinical development teams at Cerus Corporation and Transcept Pharmaceuticals and was an investigator at the Centre for Drug Research, Hospital de la Santa Creu i Sant Pau in Barcelona, Spain. Dr. Rico earned his Doctor of Medicine and Surgery degree from the National Autonomous University of Mexico and holds an M.S. and a Ph.D. (Summa Cum Laude) in pharmacology from the Universitat Autonoma de Barcelona. He did his postdoctoral training in clinical pharmacology and transfusion medicine at the National Autonomous University of Mexico, and in pharmaceutical medicine at Universitat Autonoma de Barcelona.

Martin Moorhead, Ph.D.: Dr. Moorhead is a seasoned biotechnology executive with expertise that spans biology, assay development, machine learning, algorithm and software development. Prior to joining Encoded, he served as senior vice president of research and development at Adaptive Biotechnologies, and before that, as vice president of computational biology and informatics at Sequenta, Inc. Earlier in his career, he held positions at Affymetrix, ParAllele Bioscience, Viaken, and Synomics. He earned his Ph.D. in elementary particle physics from the University of Oxford, holds an M.Sc. in computing from the Imperial College of London, and earned his B.Sc. in physics from the University of Manchester. He also completed a postdoctoral research fellowship at the Lawrence Berkeley National Library, where he developed machine learning algorithms for data analysis.

About Encoded

Encoded Therapeutics, Inc., is a biotechnology company developing precision gene therapies for a broad range of severe genetic disorders. Our mission is to realize the potential of genomics-driven precision medicine by overcoming key limitations of viral gene therapy. We focus on delivering life-changing advances that move away from disease management and towards lasting disease modification. We are advancing our lead asset, ETX101, for the treatment of SCN1A-positiveDravet Syndrome. For more information, please visitwww.Encoded.com.

Media Contacts

Sarah SuttonGlover Park Groupssutton@gpg.com 202-337-0808

Danielle CanteyGlover Park Groupdcantey@gpg.com 202-337-0808

View original content to download multimedia:http://www.prnewswire.com/news-releases/encoded-therapeutics-expands-gene-therapy-leadership-with-key-appointment-and-promotion-301002272.html

SOURCE Encoded Therapeutics, Inc.

Follow this link:
Encoded Therapeutics Expands Gene Therapy Leadership with Key Appointment and Promotion - Yahoo Finance

When actor Danny Thomas opened St. Jude Children's Research Hospital in 1962, the survival rate for childhood cancer was just 20 percent. Today, that rate is 80 percent, thanks to medical advancements and research breakthroughs -- including those made by the doctors at St. Jude.

St. Jude's work treating children with cancer from across the world at no charge to their families is well-known, but doctors at the hospital are also conducting more clinical trials for cancer than any other children's hospital. The St. Jude Children's Research Hospital -- Washington University Pediatric Cancer Genome Project has resulted in groundbreaking discoveries about several childhood cancers, and in April, the St. Jude research team announced that they had developed a gene therapy that can cure infants born withX-linked severe combined immunodeficiency, commonly known as "bubble boy disease."

In addition, St. Jude leads the Childhood Cancer Survivor Study, which includes more than 30 institutions across North America and more than 20,000 childhood cancer survivors. All of the research that St. Jude's doctors do, and all of the discoveries they make, are shared freely with doctors and scientists worldwide -- an important contribution to not only the treatment of childhood cancers but, hopefully, the discovery of cures.

"The research facilities here are fantastic. Like, when you donate to St. Jude, you're not just donating to help the kids and their families, you're donating for this tremendous amount of research that's going into save more lives," shared King Calaway during the 2020 Country Cares for St. Jude Kids seminar in Memphis, Tenn., in mid-January. "It's fantastic ... And the fact that it's openly shared among other researches all around the world ... That's incredible."

When the rising country band and other artists visited St. Jude during the Country Cares seminar, they were offered a look inside the hospital's research lab. Johnny McGuire called the experience "really cool," and marveled at how the organization shares all of their discoveries, while Jackson Michelson recalled to The Boot his conversation with a doctor from the UK who had planned to work at St. Jude for one year but has now been at the hospital for a decade.

"I thought it was gonna be a cry-fest for me, but I left so inspired by what I saw, and the real, hard data of support, of success," admitted Brett Kissel. "It's an incredible facility ... This is an establishment that works ... and it's getting better with every year."

Independent artist Abbey Cone, too, was blown away by the doctors she met in the research lab, and the other St. Jude employees she met during her time at the hospital. "Every person I talked to today ... you could literally see the passion they have for their job and St. Jude as an organization," she reflected.

On Feb. 6-7, more than a dozen country radio stations owned by Townsquare Media, The Boot's parent company, will hold their 2020 Country Cares radiothons to raise money for St. Jude Children's Research Hospital. In the past six years, these stations have raised more than $9.2 million, and even more money has come from additional TSM stations that hold radiothons later in the year. To join the fight against childhood cancer and become a Partner in Hope, visit St. Jude's official website.

Country Cares Through the Years: See the Stars With St. Jude Patients

Read the rest here:
In St. Jude's Research Labs, 'You Can Literally See the Passion' for Finding Cures - The Boot

One common theme was the importance of companies having their own launch protocols and fine-tuning them to suit individual therapy areas and markets. Although many companies have developed launch excellence codes, their diffusion and adoption across global organisations seem to be variable.

There are two key questions companies should ask themselves when theyre preparing to introduce a new product: do they have a launch framework, and is the company empowered to use it?, said Suzie Denton, Managing Director, Consulting at McCann Health.

The most successful organisations establish their own codes of practice to ensure theres a standardised approach to launching across the company. Then within that framework, theyll define clear launch archetypes; what type of launch is it? What level of investment does it require? What is the size and scale of expectation? Who needs to be involved? And what is the protocol for becoming launch ready from global to local? Secondly, empowering teams to use a framework is as important as establishing one.

"Everybody involved in the launch preparation phase must both understand and be able to implement the launch excellence approach the company believes in. It has to be cohesive, joined up and embedded across regions because, whatever the market nuances are, consistency in global and local delivery is essential.

Customer-focused

A second core component is the need to be customer-focused rather than brand-led. This philosophy underpins all successful launches throughout the brand life cycle. Launch excellence is about prioritising what matters for the launch brand. Every product is different, so you cant launch everything in the same way, said Denton.

The complexities of todays marketplace mean we really need to get beneath the surface of the brand and the opportunity, and take a bespoke approach to every launch. Running through all of this is the need to be customer-centric. Companies can sometimes become so focused on the data and the science that they forget to think about what matters to the doctor, the patient or the payer.

"What are the critical things that drive their behaviour now? What shift in behaviour is required to take them to where you want them to be? And how can you create meaningful engagement to help that transition? You wont change that belief state by focusing solely on the data you need to get closer to customers to help them along that journey. Customer-centricity is arguably the most important aspect of launch excellence. Without it, a brand cannot hope to succeed.

Sustainable healthcare: a key driver

Emma Gorton, Director, Hanover Communications, believes that advances in medicine are rewriting the rules of healthcare and changing the nature of pharmaceutical launches. The essence of what a launch is has changed, said Gorton.

Weve been through an era where we had incremental increases in innovation delivering blockbuster treatments for prevalent long-term conditions and headline diseases. However, were now moving into areas like immunotherapy and are on the edge of amazing innovations that will deliver great outcomes for patients.

"These advances are putting huge pressure on healthcare budgets. The debate has shifted; previously it was all around access to innovation but now theres a greater focus on the need for sustainability in healthcare systems.That has affected how launches work because people are looking for, and are now able to measure, different things from treatments cost- effectiveness, societal value, whole system costs.

There are huge implications for communications. Take gene editing, for example. Were going to get to the point where treatments like gene therapies will be ubiquitous so we need to set ourselves up for them now and embrace the ethical debate so that we bring the public along with us.

"We dont want to be in a situation where the public only understands the complex access challenges we will face for potentially curative medicines when people are being denied them due to cost. We need to get ahead of it. That means thinking about the things that might affect a launch as early as possible and shaping those communications proactively. As things get more complex, we need more time to explain them, to prepare the market.

Timing is everything

When it comes to launching a new medicine, timeliness is key. Essentially, a good launch is about getting breakthrough treatments to the people that need them as quickly as possible, said Gorton.

There are lots of stakeholders involved in that process right across the ecosystem and were all working towards that same goal. Progress is about developing relationships, creating collaborations and building long-term advocacy to ensure medicines get to the right people in the shortest possible time.

"Success requires being agile and responsive to fast-moving environments, and also being much more efficient. The rise of AI, along with better access to deep data, has the potential to reduce R&D time frames making it easier to develop launch plans closer to launch when the environment is much clearer.

Right customer, right time, right message

Stakeholder engagement is critical, but in an era characterised by significant pressure on costs both among customers and companies optimising resources is the name of the game. Companies are striving to be more innovative in how they go to market, said Sabine Dettwiler, Managing Director, Commercial Advisory Group, Syneos Health.

Its a huge ongoing challenge. How do you deploy your resources so you get to the right customer at the right time with the right messages but, at the same time, minimise costs? Theres a real focus on customer-centricity, yet we still see launches where companies go after the wrong stakeholder or dont tell the right story.

"Fundamentally, you need to develop a relevant, resonant story that differentiates your product and clearly conveys the value you bring to the patient and the healthcare system as a whole. Doing this means knowing your market and your stakeholders inside out, and understanding whether you can carve out a niche where youre likely to get more traction.

"The best launch plans define how theyre going to target that niche. Many companies have moved away from one-size-fits-all messaging.Theyre developing tight, customer-specific stories that align with an overarching message and theyre leveraging market insight to create sound strategies for how they target them. The key is to engage early.

Develop launch plans by purpose

One long-standing challenge in pharma launches is the engagement between R&D and commercial. In most pharma companies, the owner of an asset until phase 3 is typically development, said Dettwiler. However, development people rarely have commercial backgrounds or even if they have, they are incentivised by commercial metrics.Too often, companies are late in considering the market potential of a compound.

"Those that leave those commercial considerations until phase 3 are invariably getting there too late. Its improving, but its still an issue. The most progressive companies have shifted their approach; instead of developing launch plans by function, theyre designing them by purpose. Theyre looking at their strategic objectives and working backwards.

If pharma companies want to rewrite the headlines of launch excellence, they need to ensure that their planning, strategy and execution provide unambiguous answers and leave no lingering question marks at all

"What are we trying to achieve? What do we need to get there? Do we need a cross-functional approach that involves input from market access, HEOR, marketing etc and at what point do we get them on board? This approach is helping to tear down silos and develop a structured, cross- functional roadmap that helps get a product to market as efficiently as possible. Ultimately, all these functions have a shared purpose. Launch excellence is about understanding that purpose, as early as possible, and collaborating with the right people at the right time in order to deliver it.

Trial and error: the danger of isolating clinical and commercial

One of the most frequently voiced theories on launch excellence is the importance of starting with the end in mind. In pharmas case, this means configuring clinical development in line with identifiable customer needs. Its a common sense principle but its not yet become a default behaviour across the industry.

The traditional approaches to launching a product still tend to sit in the commercial function, said Chuck Stevens, Vice President and Global Head of Access, Commercialisation & Communications at ICON plc. However, those approaches need to migrate out and begin to align with HEOR, medical affairs and clinical teams. Companies need to look at how they design their clinical trials and what their target regulatory approaches are in different markets around the globe and start to overlay a commercial launch approach onto that regulatory sequencing.

Often, the way clinical and regulatory teams configure clinical trials to meet local regulatory requirements is misaligned with how a drug needs to be introduced commercially in those markets. Similarly, commercial teams need to drill down and understand HTA requirements within the disease category to ensure trials are designed to capture the necessary data for modelling.

"When drugs dont receive HTA regulatory support in major markets, its sometimes because companies havent modelled correctly so when HTA bodies reverse engineer those models, they find that either information is omitted or things are included that skew the way they would normally assess a drug. These costly errors underline why the early alignment of R&D and commercial is essential at launch.

Dont forget the patient

Another area where theres room for improvement is pharmas understanding of the end user the patient consumer. Although every company says and believes that theyre patient-centric, their understanding of what constitutes value to a patient is often suboptimal, said Stevens.

Definitions of value will obviously differ from customer to customer payers, patients, prescribers and providers will all have different views. In todays marketplace, with the level of innovation coming through in areas like rare disease and genetic disorders, its incredibly difficult to model cost-effectiveness to determine value for the patient or caregiver. Theres also lots to do before we can define societal value for expensive curative treatments.

So how does this translate into launch excellence? Very early in development as early as phase 1 and 2 patient insight is critical, said Stevens. Pharma must move beyond traditional market research and engage patients, one-to-one, to uncover their perspectives on everything from their disease experience and diagnostic pathways, to the things that prevent treatment and the real-world implications of taking a medicine.

"Understanding all these things is important it will shape trial design, identify unmet need and help articulate the patient value that will drive adoption at launch. True patient insight and engagement is critical.

The headline

Launching a new medicine is like crafting an article that captures attention: its how you start that matters. If pharma companies want to rewrite the headlines of launch excellence, they need to ensure that their planning, strategy and execution provide unambiguous answers and leave no lingering question marks at all.

See the original post:
It started with a miss - PMLiVE

Personalized medicine has taken a big step forward with the launch of non-profit n-Lorem Foundation, which will create patient-tailored antisense oligonucleotide (ASO) therapeutics for people with rare diseases at no cost to the patients. This comes at the same time as custom gene therapies for rare disease patients are being developed, including some combined with CRISPR. As a result, more peopleeven those with ultra-rare diseasescould finally have access to treatments.

The process of developing these treatments is still burdensome and expensive. Only a few patients will benefit at first. But this concept has only been a dream until now, with most of these patients being completely shut out of the typical drug development process. Whats more, the scientists and sponsors pioneering these approaches are hoping to create blueprints for the treatment of ultra-rare diseases in general.

One of the goals is to create a replicable protocol, said Simon Frost, the father of Annabel Frost, a child who suffers from the ultra-rare disease alternating hemiplegia of childhood (AHC). We want to do it for our disease, and then take that process and give it to more patients across many more diseases. Frost, who is CEO of Tiber Capital Group, has been in discussions with multiple labs and investigating several approaches, including ASOs, gene editing, and gene therapy.

The blueprint for the ASO-based approach was a made-to-order treatment for a child with Battens disease, a rare neurodegenerative disorder. In 2018, Timothy Yu, a doctor at Boston Childrens Hospital, sequenced the genome in then six-year-old Mila to diagnose the condition. It turned out Mila had a retrotransposon which had inserted into her CLN7 gene. That aberration was blocking normal protein production by that gene.

Yus team then created a tailor-made ASO, which they called milasen, to mask the mutation in Milas genome, as detailed last year in the New England Journal of Medicine. It took about one year from sequencing to delivery of the therapy. Then, nine months after her treatment began, Milas doctors reported being hopeful about her prognosis, although they noted that she may already have experienced substantial effects from the disease. Hundreds of people, including parents and researchers, have since reached out to Yu to try and have this process replicated. Yus lab is reportedly developing several more personalized oligos, including ones for a rare form of epilepsy and ataxia-telangiectasia, which is a neurological disease.

Addressing the challenges

The demand for more custom ASOs is intense. But there are many issues standing in the way of such therapies.

ASOs are at the point where the investment in the technology has paid off commercially, said Art Krieg, an expert in oligonucleotide therapeutics as well as founder and chief scientific officer of Checkmate Pharmaceuticals. And now Tim Yu has shown the process for making customized ASOs. The questions is whether you can standardize that and could companies find it profitable to develop those therapies. Further, ASOs only block mutations and need to be given for life.

n-Lorem is funded with $1.5 million from Ionis (formerly Isis) Pharmaceuticals, another $1.5 million from Ioniss founder and former CEO Stanley Crooke and his wife Rosanne Crooke (a researcher at Ionis), $1 million from Biogen, and additional funds from other donors. Crooke started Ionis in 1989, as a pioneer in RNA-targeted therapeutics. Today, the company has three drugs on the market and more than 30 in development for a wide range of conditions. Biogen is partnered with Ionis on several of these.

Biogen declined to comment for this article, but sent this statement: Antisense oligonucleotides have been a game changer in the treatment of spinal muscular atrophy (SMA) and we believe they could hold promise in tackling other diseases. So, we are pleased to help support the establishment of n-Lorem Foundation and their mission to provide advanced, experimental RNA-targeted medicines free of charge to patients with ultra-rare diseases.

I knew we could do this and I knew there was a need, said Crooke, who started working on n-Lorem two years ago. But he also realized it was going to be challenging. The patients need a full genomic workup, and you need an investigator who can submit the IND and oversee it, he said. One major development that convinced Crooke the concept was feasible was the 2014 establishment of the Undiagnosed Diseases Network (UDN), a research study funded by the National Institutes of Health Common Fund. The UDN comprises clinical and research experts from across the U.S. who work to solve medical mysteries. As of 2019, 12 UDN clinical sites were open.

While UDN will be a key source of qualified patients, Crooke says n-Lorem will not be restricted to those. We announced the launch last week, and we already have six proposals for patients to treat. But patients need a confirmed genetic diagnosis and treating physicians. Then they must submit a proposal to treat to n-Lorems Access to Treatment Committee.

Another critical issue is the FDAs response. Crooke said he has already approached regulators and they are supportive. But n-of-1 trials like these raise special issues. In an editorial that accompanied the Yu teams report in NEJM, FDA regulators point out the many challenges to evaluating n-of-1 drugs what are the differences between treating one, ten, or thousands of patients? they asked.

But they also acknowledge that the field is moving ahead rapidly. Academic clinicianinvestigators now have the capacity to rapidly uncover specific mutations and pinpoint the putative mechanisms leading to certain rare disease phenotypes. Various ASOs or other compounds can be produced by third parties, and investigators can evaluate them using in vitro assays or animal models, the regulators wrote. FDA is holding a workshop in March on individualized therapies to try and advance thinking around this topic.

Ioniss long experience with ASOs should help in this regard. There are several generations, or classes, of ASOs that the company has developed over the last 30 years. Many years ago I began putting together integrative safety databases about the different classes of ASOs we have developed, Crooke says. Each class has generally similar properties, but they also have important differences such has ligands that work in different organs. Ionis has published on these databases and the properties they reveal, as well as providing the FDA access to the databases. That doesnt mean, however, that researchers will be able to predict all the effects of any ASO in any patient.

Finally, there is the question of cost, which is a particular boondoggle for rare diseases. We know this is feasible but we want to reduce the costs as far as we can, Crooke says. n-Lorem and Biogen are both already working on processes to further cut costs, But we will need to raise even more money to help more patients, he added. Patients shouldnt have to be on the internet raising funds for this.

While hes aware of the challenges, Crooke said hes feeling optimistic. Ive been overwhelmingly impressed with the commitment and advice weve gotten from physicians, experts on antisense and clinical trials,and others. He also hopes more modalities, besides ASOs will be able to work with n-Lorem and start similar endeavors. Im hopeful a gene therapy company can join us or do the same thing, he noted.

Gene therapy too

While there is nothing equal to n-Lorem yet, other researchers are already pursuing customized gene therapies, even for patients who have mutations that are very rare or that are not correctable with standardized gene therapy.

Monkol Lek, for example, is a geneticist at Yale who has been working on a gene therapy for a single patient with an ultra-rare mutation in a muscular dystrophy gene. There are more than 30 types of muscular dystrophy, and some are caused by mutations that affect different genes or varying sections within those genes. Lek himself has limb-girdle muscular dystrophy (MD). When he was first diagnosed, he remembers hearing over and over again that there were no treatments for his condition.

That was enough to inspire Lek to leave a career in IT while in his 20s and obtain degrees in physiology, bioinformatics, and genetics. Soon after he arrived at Yale in 2018, Lek met Rich Horgan, founder of the non-profit Cure Rare Disease, and whose younger brother Terry has a type of MD. Lek analyzed Terrys genomic data, and found he is missing the dystrophin genes promoter region, which needs to be activated in order for that protein to be made. Terry is also missing part of exon 1, which is also necessary to generate the production of dystrophin.

While they originally considered using ASOs, Rich Horgan and Lek realized that wasnt feasible because rather than needing to turn off a gene, they needed to turn on a gene, or at least its promoter.

One twist in this particular case is that people have two alternative versions, or isoforms, of this promoter and exon 1one set in muscle cells and another in brain cells. With that in mind, Lek is using a modified version of CRISPR called no-cut CRISPR to introduce a transcription activator attached to the Cas9 enzyme to turn on the brain-specific set, and thus make up for the deficit in muscle. He uses an AAV and CRISPR activation construct as well as guide RNA to direct the CRISPR to the right spot in the DNA.

Lek has already tested his putative therapy on Terrys cells and successfully corrected the mutated gene in the lab. Next, the treatment will be tested in mice. However, Lek is also exploring the possibility of an n-of-1 clinical trial in which the therapy would only be tested in Terry or anyone with his specific mutation.

Rich Horgans Cure Rare Disease group is now leading new projects for two boys with different forms of Duchenne MD as well as a patient with the limb girdle form of the disease.

Frost, meanwhile, is still investigating the best options for treating his daughter Annabel. His family has spent $250,000 so far and he expects it will cost another $250,000 to $500,000 to reach proof of concept. Annabels mutation is in ATP1A3, a gene that is associated with at least 12 different rare diseases (See table). However, Annabels specific mutation is very rare. Were not sure yet how many of these other conditions would be treated by the same transgene, but it could be a large proportion, Frost said.

Krieg noted that we are not yet at the point where any for profit company will want to develop n-of-1 therapies. It doesnt cost that much to manufacture DNA, and its a fully automated process, he said. It has taken billions of dollars already to get the technology this far and develop applications for some more common diseases. But the overall cost of lifetime treatment is still prohibitive. Right now, I dont know why any company would want to do this, he added. But there will come a time when there are the right incentives and someone will try it.

For families such as Annabel Frosts, these developments are still encouraging, and give them hope that they can help shape the future of the new field of n-of-1 therapeutics. This also supports the idea that more children should undergo whole genome sequencing as soon after birth as possible. With many rare diseases, the damage is compounded the longer the child is untreated. Further, greater understanding of how the full range of possible mutations in any gene impact health, and how that can be treated, will press the field forward.

See original here:
Dawn of the Customized Cure - Clinical OMICs News

The lottery that began this week was not about money, or about choosing a school, or about obtaining a visa. It was about a childs life.

In this case, the children selected would receive a drug that otherwise was not available. Jamie Clarkson, an electrician in Queensland, Australia, entered his 18-month-old daughter, Wynter.

We applied for it because we desperately want this drug for our daughter, but youre putting your daughters well-being and longevity in the hands of a lottery, Clarkson said. I guess its the fairest way to decide who gets the drug and who doesnt, but yeah, its not a great feeling.

advertisement

The treatment, a gene therapy called Zolgensma, is designed for children like Wynter who have a neuromuscular disease called spinal muscular atrophy, or SMA. Without it or other treatments, those with the most serious type are likely to die as babies. It was first approved by U.S. regulators only last year, and is not yet available in other countries.

The lottery was devised by the drugs manufacturer, Novartis, to give families in those places a chance to get it through a novel form of compassionate use a way to get medications that have not been approved while they wait. Fifty doses are slotted to be given away for free in the first half of the year, with up to 100 total.

The first drawing occurred Monday.

Ethicists and advocates have debated the merits and the design of the unusual arrangement. Parents said that it was uncomfortable to cast their childs fate into what felt like a sweepstakes a kind of bizarre Willy Wonka contest in which, as Maura Blair, a Canadian mother of a child with SMA put it, were talking about lives. But if it was a chance to get the drug, it was worth trying.

Zolgensma costs $2.1 million in the United States the worlds most expensive drug. And even if it is to cost less in other countries, even if it is to be covered by insurance, infants at this point are not eligible for it after turning 2. Some families have even tried to fundraise in hopes of buying the drug themselves and getting it injected by doctors in the United States.

Shes 7 months, Laura Silva, who lives north of Toronto, said about her daughter, Rebecca. Do we rely on their word and wait it out? Or do we take action ourselves? Because the sooner she can get it, the better for her.

Some parents said they had taken issue with news coverage of the lottery, which has framed the eventual recipients of the drugs as lucky winners. If that were the case, what did that say about everyone else?

The kids appeared healthy at birth. But soon, their parents recalled, it became clear that something was wrong. They couldnt raise or control their arms and legs. They would choke on their milk.

Jamie Clarkson, in Australia, said he and his wife, Kellee, had a friend with a daughter around Wynters age. When laid face down (tummy time, in parental parlance), the girl had no problem lifting her head.

The difference was chalk and cheese, he said. Our girl sort of laid there and didnt do anything.

Sometimes the parents were told their kids just needed more time, but eventually, a clinical evaluation and genetic test would confirm the SMA diagnosis. The most serious form, called type 1, is estimated to affect 1 in 15,000 babies.

Children with the disease have a mutation in a gene called SMN1 (or a missing gene) that meant cells dont produce sufficient SMN protein. The dearth of the protein debilitates motor neurons, which are responsible for relaying messages to muscles, and creates a cascade of issues that culminates in muscle weakness.

Without treatment, babies with type 1 SMA might never be able to lift their heads or arms or legs, and struggle to regulate their swallowing and breathing. Most die by 2, typically because of respiratory issues.

Zolgensma works by ferrying a healthy copy of an SMN gene into motor neurons restoring production of the protein and the health of the neurons. It is a one-time treatment with lasting benefits like reigniting a pilot light.

When Zolgensma won approval from the U.S. Food and Drug Administration in May, it was hailed a monumental victory for families and an achievement in genetic medicine one of the first gene therapies to make it to the market. But it also created a divide between haves and have-nots American parents, assuming insurance companies would cover the treatment, and parents anywhere else in the world.

It is not uncommon for a drug to be available in the United States before other countries; drug makers routinely apply for and receive regulatory clearance from agencies around the world at different times. But the FDAs approval drove global appeals for a drug that offered babies a chance.

Beyond the issue of regulatory approval, supplies of Zolgensma are tight, Novartis has said. Gene therapies are complex to manufacture, and the company only has one facility producing the drug right now, with plans for two more to come online this year. It also needs to have doses available for U.S. patients and for patients in other countries where the drug could become available in the coming months. (European regulators are expected to decide on Zolgensma this quarter, and Japanese officials before the middle of the year, the company has said. Decisions in Canada and Australia may not come until 2021.)

Novartis saw a lottery as the answer.

Random lotteries are an accepted way to mete out resources when there is a limited amount, some ethicists have argued. They establish an equal playing field and remove the possibility that those with money or connections can maneuver to jump the line.

But experts have also questioned whether Novartis has done enough to try to overcome the scarcity issues. Some have also said that favoring those with the greatest need meaning the sickest children would be a more ethical approach; patients who are healthier could potentially wait until the drug is approved in their home countries or until more supply is available.

If it is really not possible to help all who are in need of help, then a lottery with priority to patients who are worst off is not a bad approach and definitely fairer than other things a company could do, said Holly Fernandez Lynch, a bioethicist at University of Pennsylvanias Perelman School of Medicine. The key is to first do everything possible to minimize the need for a lottery at all and its not obvious to me that Novartis has done that here.

The fact that the lottery created a situation in which there are, for lack of better descriptors, winners and losers also left some people uneasy.

You cant do anything to improve your chances, said Genevieve Kanter, also a bioethicist at Penn. But it does become a zero-sum game, which is what bothers some people about the mechanism, even if at the end of the day, more kids get treated than in the alternate scenario where theres no lottery.

Its the price we have to pay to have some kids treated.

In an interview with STAT, the president of AveXis, the Novartis unit that developed Zolgensma, said the company considered prioritizing the patients who were sickest or those for whom another SMA treatment did not help. But the company, which is using an outside party to handle the selection and brought in ethicists to consult on the system, did not want to put a finger on the scale in any way, he said. Instead, selections would be random.

Its the only fair way to allocate, the official, Dave Lennon, said, even as he acknowledged, its not an ideal situation.

The alternative is not do anything, which we didnt feel like was a good option, he added.

He said if the supply was sufficient, Novartis hoped to expand the program.

Novartis would not say how many people were being selected each time. Drawings are set to take place every two weeks.

And that means families in desperate need have a chance to obtain the medicine just as often.

For them, they try every possible way to get this Zolgensma, said Csilla Galik, a friend of the family of Noel lys, who has type 1 SMA and whose family lives in Romania near the Hungarian border. They need to try every possibility because this medicines price is incredible.

Beyond Zolgensma, there is another treatment for SMA: Spinraza, manufactured by the drug maker Biogen and more widely available globally. Injected into the spinal fluid every few weeks and then every four months, it promotes the production of the SMN protein by boosting the activity of another gene similar to SMN1.

Many of the children waiting for Zolgensma are already receiving Spinraza, and their parents say it appears to be helping, to an extent.

Wynter Clarksons motor function has improved, though not as much as her parents had hoped it would. She can move her head and raise her arms, and can sit up with a back brace. She can rock from side to side, but not quite roll over. Each treatment requires the family to travel about two and a half hours from their home in Toowoomba to Brisbane.

Spinraza and Zolgensma have not been compared in a head-to-head study, and how long the benefits of Zolgensma last is not yet known. But parents said they see a one-time infusion of Zolgensma which replaces the faulty gene at the root of the disease, instead of just building a workaround as the best option for their children.

Even when children are on Spinraza, their disease can progress, if at a slower rate, parents said.

Blair said her daughter, Lennon, has more control over her head and limbs since starting Spinraza. But after three doses, the girl still needed a feeding tube inserted; she lost her ability to swallow. Thats on top of other care required by Blair and other parents of infants with the disease. Oxygen levels needed to be checked, sleeping sometimes requires a mask and machines to aid breathing, physical therapy exercises are done to try to coax some muscle activity.

You basically repeat that all day, all day until bed time, said Blair, of St. Catharines, Ontario. And everything takes so long.

There is another wrinkle to having a child with the disease: Its inherited, and some parents though not all said they felt responsible for having passed on a mutation that made their child so sick.

To have the disease, a child needs to inherit two mutated copies of the gene, one from each parent who can go through life not knowing they are carrying the mutation until they have a child with the disease.

The parents who have struggled with a sense of guilt know they shouldnt blame themselves, but they still catch themselves wondering if there was something they could have done differently.

Its something we technically gave to her, not even knowing that we could, said Laura Silva, the mother who lives near Toronto. And thats the hardest part.

When it came time for the lottery drawing this week, her daughter Rebeccas name wasnt in the pool she hadnt yet gotten the necessary approval from a Candian health authority to try an experimental drug. Its not clear how many Canadian children found themselves in similar circumstances, or how many were successfully entered by their doctors. Some parents said they were still waiting for that approval.

Noel, the boy in Romania, was entered by his doctor. But his family had not heard anything following the initial drawing. Neither had the Clarksons in Australia:

No word from our neurologist about the free Zolgensma dose, Jamie wrote in an email Tuesday, so Im assuming Wynter wasnt picked this time around, unfortunately.

Winnie Luk-Taylor and Cory Taylor, who live outside Toronto, were once hopeful that Zolgensma could help their daughter, Skye.

She was born in June. Her motor skills werent developing as they should have, and her breath had a rattle to it, as if she were congested. At around 4 months, Skye was diagnosed with SMA and, with a cough, her parents were told to take her to the hospital. She was also started on Spinraza.

She spent a month and a half at the hospital with respiratory infections and complications. She died Dec. 21.

Skye took it all in and smiled at every one and didnt seem to realize she was experiencing some very, I guess, major medical procedures, her mom said. She was a very good-natured girl.

Luk-Taylor said she sometimes wondered what might have happened if Skye had been born one year later June 24, 2020, not 2019. Ontario, the province where they live, started testing for SMA this year as part of its newborn screening, meaning Skye might have been diagnosed earlier in her life and started on Spinraza sooner. Maybe it could have had more of an effect. And maybe Zolgensma would have become available to Canadian babies not long after that.

Instead, at Christmas, Luk-Taylor wrote her daughter a poem.

We will never let you go, it reads in part.

Your spirit will live onIt lives in everything I doI will always fight for youI will always care for youI will always dream of youI got to see who you were to becomeAnd I am blessed and proud of youI am blessed and proud of youI hope you see and hear me nowAnd know that I love you.

Read more:
Lottery like no other offers a cutting-edge medicine with lives on the line - STAT

Dr. Thomas Lynch in Seattle on Monday, his first day as the new president and director of the Fred Hutchinson Cancer Research Center. (GeekWire Photo / Todd Bishop)

Dr. Thomas Lynch is in his first week as the new leader of the Fred Hutchinson Cancer Research Center, but he already has a four-point plan to help guide the Seattle-based institute in its quest to treat and ultimately cure cancer.

Given his new home, in the middle of one of the countrys hottest tech hubs, its no coincidence that one of those points heavily involves the technology industry.

The intersection between tech and data and science is something we are really well-poised to be able to understand and exploit here in the Seattle ecosystem, Lynch said in an interview with GeekWire this week. He cited the quest to look at very large data sets of electronic medical records, genomic data, proteomic data, and begin to understand who gets cancer, and why do they get it.

For example, Fred Hutch currently collaborates with Amazon to mine and decode medical records using artificial intelligence, and reduce the processing time needed to analyz the microbiome. It partners with Microsoft on a Pacific Northwest data discovery program, and a new $40 million initiative to address global health challenges with AI. A collaboration with Pattern Computer for analyzing genetic variations is an example of the institutes work with smaller tech companies.

Dr. Lynch, a veteran physician and scientist, is the sixth president in the 44-year history of the Seattle-based cancer research institution, which employs more than 3,000 people and is ranked first in National Institutes of Health funding among all U.S. independent research centers.

Hes a scientist and oncologist who was part of the first research team to discover how targeted therapies could help lung cancer patients with a specific genetic mutation. Lynch was most recently chief scientific officer of Bristol-Myers Squibb. Prior to that he held leadership roles as CEO of Massachusetts General Physicians Organization, director of the Yale Cancer Center, physician-in-chief at Yales Smilow Cancer Hospital, chief of hematology-oncology at Massachusetts General Hospital and professor of medicine at Harvard Medical School.

Listen to our conversation above, or subscribe to GeekWire Health Tech in your favorite podcast app. Continue reading for an edited transcript.

Todd Bishop: You said in the announcement that you were becoming the new Fred Hutch president that as soon as you saw the opening, you knew this is where you wanted to be. This is what you wanted to do. Why?

Dr. Lynch: The excitement about whats happening in Seattle and at the Hutch in terms of cancer, in terms of technology, in terms of how were moving society forward in this kind of integration, this is a dynamic place to be. My whole career has been about approaching cancer, from the treatment of cancer, prevention of cancer, understanding what populations of people get cancer, and how we can understand it better. And I couldnt think of a better place to be than the Hutch. The combination of a focus on cancer prevention, as well as the integration of understanding how viruses and microbial species can impact cancer, plus the focus on cancer treatment, with the fact that this is the birthplace of bone marrow transplant and the home of cellular immunotherapy. This is just an extraordinary place to be and the opportunity here is perfect.

TB: Among other things, youre a scientist and an oncologist. You were part of the first research team to discover how targeted therapies could help lung cancer patients with a specific genetic mutation. And I do want to talk in part about what role genes will play, and specifically, genetic analysis will play. But most recently, you were the chief scientific officer at Bristol Myers Squibb. Im curious, after your career in research and academia, what perspective youre bringing from Bristol Myers Squibb to this new role and how that job changed your viewpoint, if at all, of the entire cancer research sphere.

Dr. Lynch: One of the reasons that actually I really enjoyed my time at Bristol Myers Squibb is that the way that cancer is going to be defeated, its an ecosystem. Its a large number of people coming at it from a number of different areas. And you need doctors who are able to deliver therapy and were also able to make important observations about the types of diseases we have. You need fundamental scientists who are working in laboratories like the Hutch, who are discovering why cancers occur.

And then you need people who develop medicines and treatments based on those scientific understandings. And some of those are biotechs. And one of the things at the Hutch were very proud of is that weve had approximately 40 biotechs that have come out of science at the Hutch, where new therapies are based on some of the things that happened there. But then big pharma can take the findings of smaller biotechs and the laboratories within big pharma and create medicines and create products. So that exposure to me was priceless in terms of understanding how crucial it is to bring new drugs to patients.

However, I think at the heart of the cancer ecosystem is the comprehensive cancer center, such as the Hutch. And the Hutch is one of approximately 45 comprehensive cancer centers in the United States, and I think its the very best.

It is an independent research center, but I think its important to remember our important partners that are part of the consortium. So the University of Washington is a fantastic university and hospital system. They are incredibly important as a partner. Childrens Hospital in Seattle, incredibly important as a partner to the Hutch. And together, the three institutions have formed the Seattle Cancer Care Alliance. While the Hutch is an independent cancer research institute, I think its also important to know that were approaching cancer utilizing many of the other key partners here in Seattle.

TB: You mentioned the spin-offs and there have been many notable ones from the Fred Hutchinson Cancer Research Center, such as Adaptive Biotechnologies, Juno Therapeutics. Theres a long list, as you said. Can you explain the significance, the importance of developing therapies and technologies that can be spun off into other companies?

Dr. Lynch: Well, I think if you look at the model of how we develop new products now, I think its changing. I think products now are often discovered in academia by scientists who are unconstrained. One of the things I love about the Hutch is the independence of the faculty. The idea that scientists come to work everyday at the Hutch arent coming to work with an agenda thats being driven by shareholders. Theyre coming to work with an agenda thats being driven by science and knowledge.

However, once youve found a lead that can turn into a potential drug, then the kind of focused resources that biotech can bring becomes really important. And you have two options. You can either start a biotech and develop that technology or you can license that technology to a bigger pharma company. I think one of the things that were seeing in the world of drug development is increasingly, good ideas are going from universities to biotech and then from biotech to big pharma as the way things get developed.

It doesnt mean it always has to be that way, but Im just saying that I think were seeing that that model is far more likely to produce new drugs. It allows people who want to invest earlier in a biotech to bring funds and resources rapidly to be able to develop these ideas quicker. And so, I think theres a big advantage in terms of speed and bringing capital to be able to make these decisions and to be able to find out if the idea from the laboratory really works in patients or has the potential to work in patients.

TB: I was digging through the Fred Hutch financials and one thing really stood out to me and that was that back in 2014, one and a half percent of revenues came from royalties and five years later, just this past year in 2019, 10% of revenue came from IP licensing. So in the same general category. What role do you see startups, tech investments, your stake as Fred Hutch in spin-offs playing in the overall growth of the institution and the quest for cures for cancer?

Dr. Lynch: Licensing will continue to be a very important place that cancer centers around the country look to be able to diversify their funding base. Research funding from the National Cancer Institute and National Institutes of Health is incredibly important. And the Hutch, as you mentioned earlier in the interview, the Hutch is the leading independent, freestanding research institute in terms of NIH funding. Thats very important. And then, therell be other sources of revenue, philanthropy and generosity of patients and of people in the community. Really important to the institute.

But then when you think about other sources, licensing becomes a very natural place to look for ways of supporting our research and supporting the mission of the Hutch itself. And I think that thats something, its not just located here. If you go to Cambridge and you look at Harvard and MIT, you look at Yale, you look at Penn, you look at Stanford, you look at UCSF. All of these places are working hard to be able to find ways to support their cancer research, and that intellectual property becomes an important way to think about that as a way of funding was.

I think it also indicates the quality of the research thats happening when you have a venture community and investment community thats able to see the value in very early stage research thats coming out of the Hutch.

TB: Your predecessor as the president of Fred Hutch, Dr. Gary Gilliland, made a bold proclamation about five years ago that he believed, within the next 10 years from then, so five years from now, there would be therapies, if not cures, for most, if not all, forms of cancer. And it got lots of attention at the time. I know youve also spoken publicly about the possibility of curing cancer in our lifetime. Give us a state of the union on the fight against cancer.

Dr. Lynch: So Id say this, I think that Gary was right. I think there are cancers now that are curable in 2025 or theyre curable 2020 that werent curable in 2015. When I took over as the head of the Yale Cancer Center in 2009, I talked about curing cancer in 2020. And I think there are cancers that are curable today that werent when I started in 2009. I know that when I started at Yale. And I think Gary was correct in saying the same thing.

And I will hold that, that by 2025 and 2030, there have to be more types of cancer were curing. It doesnt mean that were going to cure every single type of cancer by 2025 or 2030, but we need to make progress in a number of different cancers.

One of the things that I feel is really important for the Hutch, and not just the Hutch, but Id say American cancer in general, is this concept of urgency. Okay? There are patients who are being diagnosed with cancer every day that need hope and need options, and thats what a cancer center is there for. Thats what the Hutch is there for. Cures start here is not just a corporate logo. Its actually true. And if you think about people whove got lymphoma or people whove got leukemia, theyre alive today because of the things that have happened at the Hutch. And so, I think that bringing that sense of urgency to solid tumors, I think is incredibly important.

TB: A lot of times, in cases of lymphoma and other blood cancers, the immunotherapy has worked well and its in part because of the characteristics of those cancers. Youre able to essentially take the red blood cells correct me if Im wrong on this, I am not a scientist but take the T-cells, reprogram them and essentially put them back in in a way that the cells that would normally go after an illness instead go after the cancer. But as you said, solid tumors have been much more difficult. This is in part your specialty. Whats the prognosis there?

Dr. Lynch: So Id say solid tumors is my specialty, and I think one of the things that I cant wait to work with people at the Hutch on. Theres two big problems I would say right now with cellular therapy for solid tumors. One is that we want to have a cellular therapy approach that can be used on more than one patient, what we would call an allogeneic T-cell therapy. Thats going to become incredibly important.

I think the second key thing is understanding what are the specific targets on the cancer cell of a solid tumor that you can go after that would distinguish it from normal tumors. I mean, one of the reasons this has been successful in leukemias, lymphomas, and even in myelomas is that they have antigens on their surface that allow the T-cell to go after them, specifically.

The good news is I think were beginning to get some insights into what these could like. And at the Hutch, more than half of our trials that were starting now in cellular therapies are for patients with solid tumor. Now, there are enormous engineering problems that have to be overcome to be able to figure out how to safely unleash the immune system. Because if you unleash the immune system against an antigen which is present throughout the entire body on other normal tissues, like lung cells or liver cells, you could end up with a lot of side effects that youd like to not see. So its a major challenge, but one that certainly needs to be addressed.

TB: Is that one of the key ingredients to the broader effort to cure cancers of all different forms, the effort to take immunotherapy and apply it to solid tumors?

Dr. Lynch: Absolutely. Ive been asked a lot in the last day, this is my first day at the Hutch. And Ive been asked a lot today, what do you want to do here? And I would say there are four areas I want to really look at.

TB: Matt McIlwain from Madrona Venture Group is the board chair of the Fred Hutchinson Cancer Research Center, and Satya Nadella, the Microsoft CEO, is also on your board. So its natural that you would see intersections with tech being here in the Seattle area. What kinds of ways might you work differently with tech and the tech industry to expand those kinds of partnerships and accelerate that kind of innovation?

Dr. Lynch: So I think thats a great question. I think one of the things thats great is you want to build teams. You want to build teams that have scientists, doctors and engineers working together. And its interesting, I was talking to a friend of mine who started a tech company thats at the influence of data and medicine. And he said to me, he said, the one thing hes been so impressed with at his company is how engineers really start to shine when they begin to realize the impact that their understanding of coding can have on patients, and that it really makes for an incredible partnership between an engineer, a doctor, and a scientist. And we think thats going to be something that were obviously going to look at.

I think one of the things you want to be a little careful of, and I have to be very careful how I say this, is to realize that some of this will take a little bit of time. For example, we look now at artificial intelligence and AI-enabled cancer research and is it all there yet? I think its still going to take a little bit of time for us to be able to apply some of these tools to able to get these answers, but I couldnt think of a better place to be in trying to get there.

TB: This cuts both ways in a market like Seattle. Youve got the existence of high level technology companies, but you also have the competition for talent among engineers. And then, of course, physicians and researchers. How do you attract and retain the best talent in both of those areas, because youve got one of the most difficult jobs around in both fronts?

Dr. Lynch: Well, Id say this. I think your point about talent is incredibly important. Id say this. I think people want to be places where the culture is great. They want to be places where the mission is real, where the energy is high and, lets face it, life is short and people want to enjoy their work and get meaning from their work. I couldnt imagine a better place to be than the Hutch to get meaning for your work.

TB: Youve had a long career in this field, but it actually dates back to your childhood, right?

Dr. Lynch: It does, yes.

TB: Tell that story if you would.

Dr. Lynch: I grew up in Hackensack, N.J., and my dad was a hematologist, a blood doctor, one of the first blood doctors in the United States. And he was actually one of the first in New Jersey, for sure. And back then, his office was attached to our house. And it sounds kind of crazy, but as a little kid, I remember playing in the yard and watching patients walk into his office.

And I remember him saying to me, he said, Tommy, he said, These patients who have leukemia, and he said, I cant do much. He said, Most of my patients with leukemia, in fact, all of his patients with leukemia, would die from their disease. And that included children, it included young adults, as well as adult patients. And weve come so far just in treating leukemia in his career, and certainly, in my lifetime as well. So its something I would say, Ive stayed in the family business to a certain extent.

TB: To what extent did your dad inspire that?

Dr. Lynch: So I think he did. I think I knew all along I wanted to be a doctor. It was something that in my family, I knew this was something that was motivating to me. And I think, he of course said, you can do whatever you want to do. He said, whatever type of medicine you want to do, but he was extremely supportive as was the remainder of my family.

And I do think one of the things though thats interesting that, you mentioned this, one of the things Im interested in is I want to make sure at the Hutch and at UW that were recruiting people into medicine who might not have had that advantage that I had of growing up in a medical family. I think one of our problems in medicine is that 30% or 35% of the people, I have a daughter whos in medical school, but 35% of people who become doctors come from medical families.

And I think we have a tremendous amount of talent out there that were missing because they dont come from medical families and they dont know the steps necessary to get there. And I think when you look at particularly trying to increase the diversity of the people who become physicians, we as a society need to do a better job of that. And I can tell you thats something were very much dedicated to at the Hutch is increasing the diversity of our physician workforce, our engineering workforce, and certainly, our scientific workforce.

TB: A lot of times when we sit down with leaders of major institutions, we talk about competitors, but your competitor in many ways is the ultimate foe, cancer. Obviously, you compete against other institutions for funding, but what is it about cancer that drove you to get into this as a career, and how would you describe this as something that youre trying to tackle day to day?

Dr. Lynch: So I think thats a great question, about the idea of cancer being the ultimate competitor. Id say the one thing that Ive been attracted to are hard problems. Okay? And when I went into cancer, I had to make a decision about what type of cancer to become most interested in. And I chose lung cancer. And the reason I chose lung cancer is because it was the leading cancer cause of death in the United States. Still is the leading cause of cancer death in the United States.

And I wanted to do something where nobody else was. I wanted to go into something which is relatively untapped as an area. Now weve made a lot of progress in lung cancer, but there is still way more progress that needs to be made to change the outcome from this disease. And so, I do think that working on hard problems is particularly rewarding. And its one of the things thats driven me.

TB: So there has been some progress, as youve been saying, especially since the days when you were watching your dads patients go into the office there attached to your house. The American Association of Cancer Research reports that the age-adjusted overall U.S. cancer death rate declined by 27% from 1991 to 2016. So thats about 2.6 million cancer deaths avoided. Yet, it sounds like based on the trends in the global population, this threat is bigger than ever. How do you look at this today?

Dr. Lynch: Well, Id say two things. So a couple things. So first, I think one of the policy decisions that we can be very happy about thats led to reducing deaths from cancer is the the emphasis on smoking cessation. So smoking cessation is really important. Understanding other behaviors for prevention, incredibly important. One of the things Im very proud of at the Hutch is the focus on cancer prevention and epidemiology, both in terms of who we should screen earlier and maybe screen differently for the emergence of early cancers, but also how can we instill behaviors that could reduce the risk of developing cancer down the road.

So I think thats also incredibly important as a means of being able to control cancer. Its not just about coming up with treatments that you can use later in the stage of a disease. Another good example is understanding the role that viruses play and the vaccinations against viruses can make. So the whole story with HPV and the advent of the HPV vaccine will prevent men and women from developing certain HPV-related cancers. And so, those kinds of things I think will make a big difference in terms of what we do now.

Now you asked the question, well isnt cancer still a major scourge? It is a major scourge. And I would say that one of the things, one of the reasons for that is our populations aging. And cancer still remains a disease of older people. And the average age of patients with cancer in the United States is about 69 to 72 years old, so its still a disease of aging. So as the population ages, the total amount of cancer continues to be substantial.

TB: What do you say to someone when they say, when will cancer be cured and how is it going to happen?

Dr. Lynch: I think one of the issues there is that its not just one disease. Cancer isnt just one disease. Cancer is hundreds of diseases defined by unique genetic abnormalities in the cancer, as well as differences between the patients in terms of how each of us have our immune system and our ability to recognize foreign cells. So I actually think that we are so much further and so much closer now than we were in terms of being able to fight cancer and understand cancer than we were 20 years ago.

If you think about the fact that we can now sequence the genome of a cancer cell and we can do that in about two days, three days to be able to get an answer. Second, were able to edit genomes incredibly well, and I think thats really important. And finally, some work that is happening at the Hutch and other major centers in terms of understanding structural biology, were able to actually look at these mutated proteins and understand what they look like and come up with ways of trying to make drugs against them that are really important.

And so, I think that those kinds of developments have accelerated where we are in cancer research and bring us closer. I would be wrong to say though, that cancer is going to be cured completely in five to seven to 10 years. I think it will happen. I just think its going to take a little bit of time, given the complexity of cancer itself.

And once we finally do cure cancer, then were going to be looking at viral diseases, which will continue to be a problem, because they can mutate and change. And were seeing that with the Wuhan coronavirus right now in terms of what can happen when viruses change. I just say that to emphasize how important virology is to the Hutch as well. We have a very large group thats working on various different, not only HIV, but other types of viruses as well.

TB: There was just a new story today about an HIV vaccine trial that the Hutch and the Gates Foundation were coordinating on that was halted because it had been shown to be ineffective. I know youre on day one on the job, literally, but to what extent can you address that and are there any lessons to be learned from it?

Dr. Lynch: Thats an important point, is number one, you have to remember that the Hutch is one of the major centers for HIV research in the world. And weve been committed to looking for HIV vaccines. Now what we know about HIV is that HIV is a disease where we have medications, antiretroviral medications that can certainly control the disease. Okay? But we havent been able to show that we can cure the disease in the way that would allow someone whos got HIV to be able to take medicine and then not need to take something else or to prevent it from happening.

So right now, youre still looking at a lifetime of medication for many, many patients. The vast majority of patients who are HIV positive have to stay on medication for quite some time. It would be terrific to come up with vaccine strategies that could prevent it.

And so, I think that one of the things that we tried was the HIV vaccine that was developed between the Gates Foundation and the Hutch. It did not meet its endpoint in the trial this morning. It doesnt mean that we dont keep trying. It doesnt mean we cant learn from that study as well. And it doesnt mean that were not going to be remain incredibly focused with that same urgency to bring to HIV that we would bring to cancer itself.

So there will be stumbles. Not every approach is going to work, and in the field of cancer there are many, many approaches that dont work. It doesnt mean you dont try things, but you want to learn as much as you can, even from the studies that dont work. Sometimes you learn the key things that lead the next study to be successful.

TB: Tying a couple things together, Dr. Gilliland, when he made that comment about curing cancer or finding therapies within 10 years, one criticism was that the funding of all forms would be attracted to that kind of statement and people felt that he might be overstating it. I guess a couple of different things here. How do you balance the need to be optimistic and pragmatic to make sure that youre speaking the truth, and yet, also encouraging donors and finding different forms of funding?

Dr. Lynch: In this, I come back to my roots as a physician. When I had a large practice at Mass General Hospital back in Boston, I took care of a lot of patients, thousands of patients with non-small cell lung cancer. And there might be a development about cancer thered be described in the media as being a breakthrough. And I would know that it probably was never going to make a difference for my patients. And I know the rollercoaster that people who are on, that people who are listening to this podcast whove recently been diagnosed with cancer, who are looking for nuggets and colonels that might be able to help them in their fight against their disease.

I think its important that we are as factual and clear as we can be. It doesnt mean though that we shouldnt be optimistic that we might find things. And I think Gary was absolutely right in saying hes optimistic. Were going to find ways to cure some cancers by 2025. And I feel the same way about 2025 and 2030, that were going to try to find ways to cure more and more cancers at that point. And thats going to be important for us to get there.

I do think that as long as cancer remains such a major public health threat, there will still be a lot of people who want to get behind the funding, both from a philanthropy standpoint, want to be able to give money to the Hutch. I think philanthropy for all cancer centers around the entire country is crucial. And just look at something like Obliteride, which is our big bike ride. You dont have to be somebody whos giving an entire building to the Hutch, although thats certainly great, but people who just ride their bike and raise money or people who do things in their community to help support cancer care and cancer research. Its incredibly important in the way we approach this disease.

And I think you just have to be balanced in how you describe it. One of the things that I think allows me to stay balanced as I think about the perspective of my patients and how they would react to a press report based on a paper in Nature that was done using a lung cancer model in mice. And I know that my patients would come in, theyd bring the paper to me just in case I didnt see it, and Id have six copies of it in my office the next day. You know, Dr. Lynch, have you seen this? What does it mean for me? And it just, the frustrating thing is its years before the finding in mice translates necessarily into outcomes for patients.

TB: Speaking of newspapers, a story in the Boston Globe was pivotal in one of your discoveries. Am I right?

Dr. Lynch: Youre absolutely right. And I think from your perspective, as someone in the science and technology media, you should feel very good that your profession led to this discovery. So this is an interesting story. I was a somewhat younger physician at the MGH at the time. It was back in 2003, 2002, and I was contacted by people who worked at the Mass General Hospital and public affairs. And they called me up and they said, Tom, they said, the holidays are coming up. The Boston Globe always likes to write motivating stories about the holidays and about peoples challenges with health. Do you have any patients whove had great examples of great outcomes? And I had this one patient and her name was Kate Robbins, and she had a fabulous response to this experimental drug that we were using in a clinical trial.

And I told the story to the Globe. They went out and they took her picture. She was on the front page of the paper. And to show you how serendipity can happen, that morning when the paper came out, there was a scientist named Daniel Haber who was in Chestnut Hill, Mass., eating cereal that morning. And he was having his breakfast, and thats back when there was a paper. Everything wasnt always on a website, but he actually opened up the paper, read her story, and he had the Eureka moment. Called me up and said, Tom, I am pretty certain your patient has a mutation in the tyrosine kinase domain of her EGFR gene. And Dan was 100% right, and that led to development of new therapies for patients with lung cancer.

TB: And this was the genetic mutation that I was referring to earlier.

Dr. Lynch: And thats the genetic mutation you were referring to earlier. Exactly.

TB: Right, and so, isnt it amazing how this was something you could have talked about, but instead he read it in the paper about one of your patients.

Dr. Lynch: He read about it in the paper. Yeah.

TB: Thats great. Any bigger lessons from that, other than talk to the press?

Dr. Lynch: Exactly.

TB: Thats great.What else should people know about you personally that I havent dug up in five-year-old YouTube videos or bios of yourself?

Dr. Lynch: So Im a very enthusiastic person in terms of thinking about what the future can bring in terms of cancer research. I am passionate about sports. I like to run and bike and play tennis. I love to follow sports teams, which is why Im delighted to be coming to Seattle. Im going to hope to make it to the first Seattle Dragons game this weekend, because I like watching sports, like playing sports. And I love Bruce Springsteen.

TB: Well, of course you love Bruce Springsteen.

Dr. Lynch: Of course I do. Im from Jersey. I mean, come on.

TB: Now wait, I got to ask you, maybe the toughest question that you might answer. Are you a Patriots fan?

Dr. Lynch: Okay. So, I do like the Patriots. Okay? And so, I had to think about this. When I get asked this in Seattle, how do I answer this question? So to say Im not a Patriots fan would be a huge problem for me. It would be denying a important part of who I am, and I love Tom Brady. But what do we have in common? Seattle has a fantastic quarterback in Russell Wilson. Everybody loves Russell Wilson. And Pete Carroll was the coach of both the Seahawks and the Patriots.

TB: There you go. So, okay. I think youre stretching there, but I will say, youre totally safe with the Celtics at this point, because theres no competitor.

Dr. Lynch: There will be. We got to get the Sonics back. Okay?

TB: Yes.

Dr. Lynch: Its really important to get the Seattle Supersonics back to Seattle.

TB: I think youll find a lot of people agreeing with that point and perhaps not the prior.

Dr. Lynch: Not the prior. OK.

TB: Whats the biggest challenge that youre going to face in this new role at Fred Hutch?

Dr. Lynch: So I think the biggest challenge that we look at is how can we create teams across diseases and centers that work really well together. Okay? Because I think to be able to cure cancer, its not going to happen just with two doctors in a room together, or two scientists in a room together, or two data people in a room together. Its going to come from six to eight people, with all those different backgrounds working together. And creating high quality, high functioning teams is going to be a big part of what we need to do here at the Hutch, and I would say across cancer research in America today.

Read more:
Interview: New Fred Hutch president on the fight against cancer, and the tech industrys central role - GeekWire

RIYADH: Professor Selwa Al-Hazzaa is a Saudi female success story set on the road to excellence from childhood.

Speaking to Arab News, Al-Hazzaa, an ophthalmologist and chairman of the ophthalmology department at King Faisal Specialist Hospital and Research Center (KFSHRC), told of her 27 years of devoted work to bettering the health care system, becoming the first woman to hold a high position at the hospital where she dedicated her life, energy and time to making a difference in her field.Al-Hazzaas career took off in 1995, as the first Saudi woman to be made a member of the Medical Advisory Council at King Faisal Hospital. Her journey wasnt the easiest, but with her talent, hard work and ambition, she was recognized by the Saudi leadership early on and used the platform to pave the way for future women in medicine and other fields.Born into a family of five girls, she grew up in Tucson, Arizona in the 1960s while her father was completing his studies. She excelled in her school years, always living up to the highest standards and expectations which she has placed upon herself.

I didnt choose ophthalmology, ophthalmology chose me.

Prof. Selwa Al-Hazzaa

I went into medicine not wanting (to do) it, she said. Nevertheless, she put all her energy into studying, because she had a higher ambition and was keen to make a difference.One of her biggest challenges was when it was time for her to enroll in university. She wanted to travel abroad to study, but was unable to, because it was rare for women to do so at the time.Back then the only two real professional options women had were medicine or education, and her father gave her a choice: Either to become a teacher or a physician. She chose the latter.After obtaining her medical degree from King Saud University, she did her fellowship at the Wilmer Ophthalmologic Institute at Johns Hopkins University School of Medicine, in Washington, DC.

HIGHLIGHTS

Selwa Al-Hazzaa became the first woman to hold a high position at the hospital where she dedicated her life, energy and time to making a difference in her field.

With her talent, hard work and ambition, she was recognized by the Saudi leadership early on and used the platform to pave the way for future women in medicine and other fields.

Her first patient was a 9-year-old Saudi girl born blind, a case Al-Hazzaa had followed since the girl was less than a year old.

She returned to the Kingdom, where she was later chosen by the head of KFSHRC, Dr. Anwar Jabarti, to be the late King Fahds ophthalmologist. She credits Jabarti for realizing her potential, dedication and skills by looking beyond gender and solely at talent.Her dream of representing her country came true, though under sombre circumstances, when she went on her first diplomatic mission after the fatal Sept. 11 2001 terror attacks in the US, remembering her fathers words: When people trust you, they will then let you represent the country.

Selwa Al-Hazzaa. (AN photo by Ali Aldhahri)

And represent her country she did, as she was the only woman between men, and with no training whatsoever in the political arena, she spoke from the heart, connecting with people. From that day on, the government took me as their voice of Saudi Arabia after Sept. 11.Through a lifetime of giving, people would ask her what was the secret to her success. There is no secret females are always givers. When we are young, we take care of our siblings, when we are married we take care of our husbands, we get pregnant and take care of our children, she said.Elected as an executive member of the International Council of Ophthalmology (ICO) in 2002, she became the youngest member, the first woman member from the Middle East, and the only female on the council from 2002-2006. She stood down in 2010.

NUMBER

2.2bn - There are an estimated 2.2 billion people with vision impairment or blindness globally, with an estimated 1 billion who suffer from moderate or severe distance vision impairment or blindness (WHO 2019).

In 2017, Al-Hazzaa was granted the degree of doctor of humanities, honoris causa, the highest honor at Franklin University, one of many honorary titles shes received in her career. She is also a member of various editorial boards, fellowships and committees, and was one of the first group of women appointed to the Saudi Shoura Council by late King Abdullah bin Abdul Aziz in 2003, in a historic move, allowing women for the first time to be part of the Kingdoms formal advisory body.

FASTFACT

Last November, Selwa Al-Hazzaa, alongside her colleague Dr. Mohamed Khuthaila and a medical team consisting of entirely of Saudis, put the Kingdom on the map as the first country in the Middle East, and the 5th globally, to utilize LUXTURNA, the first USA FDA-approved gene therapy treatment for any genetic disorder to treat blindness in children.

With her 27 years of experience in the field, publishing 69 accredited papers and more, her lifes work finally paid off in November of last year when she, alongside her colleague Dr. Mohamed Khuthaila and a medical team consisting entirely of Saudis, put the Kingdom on the map as the first country in the Middle East, and the 5th globally, to utilize LUXTURNA, the first USA FDA-approved gene therapy treatment for any genetic disorder to treat blindness in children.Her first patient was a nine-year-old Saudi girl born blind, a case Al-Hazzaa had followed since the girl was less than a year old. The successful utilization of the treatment was one of her finest career achievements to date.If you are going to take a certain specialty, dont take what everybodys taking take something that doesnt exist and make it exist. Take something hard, because then when you are called upon, it will be regardless of your gender.I didnt choose ophthalmology, ophthalmology chose me.

Read more:
Selwa Al-Hazzaa: The Saudi doctor giving the gift of sight - Arabnews

"We're moving close to a cure," says Wyatt's doctor, Mark Tarnopolsky, who is director of the neuromuscular and neurometabolic clinic at McMaster University Medical Centre in Hamilton.

Children with spinal muscular atrophy lack a certain protein that is critical for the maintenance and function of specialized nerve cells, called motor neurons, which control muscle movement throughout the body.

Without the protein, the motor neurons die and the muscles can't move. If they don't move, they shrink and weaken. The child suffers debilitating effects that inhibit even their ability to breathe and swallow.

Until recently, most children with this type of spinal muscular atrophy died of respiratory failure by their second birthday.

But in 2018, a new drug called Spinraza was approved for use in Canada. It prevents the rapid nerve degeneration from occurring, if it is given early enough in the child's life.

At $125,000 a dose, it's very expensive. Luckily, the Ontario government pays for it.

Wyatt has had four doses since he was diagnosed six months ago.

He can clap his hands together and kick a little bit, Dannon said.

"He is such a happy little guy," she said. "Every moment I spend with him, I love."

Wyatt's aunt and parents have started a GoFundMe page to help pay for some of his expenses. The family has already raised about $74,000 through this and other fundraisers.

They've poured their hopes into a brand new drug called Zolgensma. It's a gene therapy does the same thing as Spinraza, but it's a single dose that lasts 25 years.

"With a longing we didn't know was possible, we hope one day Wyatt can dance to the beat of his favourite song, send our hearts racing as he climbs a high tree or wrestle with his dad on the floor," the family says on its GoFundMe page.

But that's unlikely to happen.

The drug is very expensive, at $2.8 million Canadian for a dose. It's not available in Canada yet.

More significantly, Tarnopolsky thinks the benefits would be very limited for a child like Wyatt. That's because he's already too old.

Nerve degeneration happens very quickly for the tiny number of children, perhaps several hundred in Ontario, who have this disease. It drops "like a stone" shortly after birth, Tarnolpolsky said.

And once the nerve function is gone, it doesn't come back.

The studies have shown it's much better for children to receive either Spinraza or Zolgensma if they get it when they're two or three months old. The oldest child in one of the Zolgensma studies was eight months old.

He would like to see newborns routinely screened for this disease so it can be treated right away.

Michael Harris, the Waterloo regional councillor who was formerly MPP for Kitchener-Conestoga riding, has met many families like the Vaseys.

"They'll do anything" for a chance for their child to get better," he said.

When he was MPP between 2011 and 2018, Harris championed the cause of families with rare diseases.

He toured the province to hear from them, tried to have an all-party committee of MPPs to discuss the issues, and lobbied for them to have access to government funds for the expensive medication they need. (It's expensive because so few patients need it, and there are few buyers to share the high cost of research, development and clinical trials.)

Working for these families was "the only time I came to tears in my entire career," he said. "I think of them all the time."

One look at Wyatt helps explain why.

He is cheerful all the time despite the long uphill road ahead for him, his family said.

Now that he has learned to clap his hands together, "all he loves to do now is clap," said Dannon.

"You would never know any of the challenges (that he faces) exist for him."

ldamato@therecord.com

Twitter: @DamatoRecord

ldamato@therecord.com

Twitter: @DamatoRecord

See the original post here:
A baby who can't crawl: A cure is on the way, but this Milton baby's time is running out - InsideHalton.com

Note: This article was co-published with the Daily Bruinas a product of the Bridget O Brien travel grant.

Sarat Kumar Borah had been taking enzalutamide for six weeks when he told his son he wanted to give up. The medicine was helping a little with his prostate cancer symptomshis headaches were milder, some days he had more energybut he became livid whenever he thought about the price of the drug.Im drying up your funds, he told his son. I am old. What is the point of me living any longer if its going to finish everyones reserves.

Without insurance to cover the cost of the medication, Borah had relied on his son, Rupam, to help pay for the drugs. Even with the leftover box of the medicine Sarats oncologist gave him, Rupam estimates he spent around 25 thousand rupees on treatments, nearly a fourth of the average annual salary in India.

Rupam insists his father is not the type to give up.

Im going to fight this damn thing out, his father had joked just weeks earlier. Who do you think youre dealing with?

But things had changed.

Although he owns a successful design business, Rupam stopped eating out, going on vacations, and dipped far into his youngest daughters college fund, leaving him up most nights trying to piece together a plan to send her to university.

Im just trying to tell her, Finish your class 12 and hold on, lets see how we do, he says. I cant break her heart.

Even if the medicine was just a little less expensive it would help, he said. Instead, in the next couple months, the price of enzalutamide could dramatically increase.

In 2016, the patent for enzalutamide, a wonder drug for late-stage prostate cancer discovered by UCLA, was rejected by the Indian patent office, a decision many believed would make the drug less expensive.

Generic versions of the drug flooded the market, offering enzalutamide for a fraction of the cost of the name-brand drug, Xtandi. Although it still wasnt as cheap as chemotherapy, Knowledge Ecology International, a consumer advocacy group, estimated that as more generic companies joined the market, the cost of a pill could be driven down to 50 cents.

Then, just a year later, UCLA appealed the decision to the Delhi High Court and, last May, won. The court sent the patent back to the Indian patent office to evaluate anew. If the office approves the patent, the decision would outlaw the generic brands of enzalutamide, leaving only Xtandi, a medication with a daily dose that is 70 percent more expensive, costing about 2 lakhs for 112 capsules, or about $223,576 in U.S. dollars.

Liz Ketcham

In 2007, the UC system and 11 other universities signed on to a set of ethical licensing guidelines that emphasized the consideration of the needs of people in developing countries, according to the document. But to critics, the pledge was little more than a PR stunt. As it was signing its symbolic goodwill gesture, UCLA was also wrapping up the licensing agreement for Xtandi, with no provisions to ensure patients in developing countries would be able to afford the life-saving medication.

Phil Hampton, a UCLA spokesperson, says the university has since changed its licensing policies to include language that encourages licensees to consider the interests of underserved populations.

Still, Rupam Borah and countless others will not be able to afford the medication if the patent is approved. Spending a quarter of his salary on medicine is unaffordable spending 40 times his salary is impossible.

We will have to live by the reality that he will have to pass away sooner, he says. Thats it. What else can we do?

In a small lab on the southern end of UCLAs campus, Michael Jung spent most of his career as an organic chemist, developing new ways to synthesize chemicals. For 45 years he was content tinkering away at basic research questions and publishing results in journals like Tetrahedron Letters. Then on his 55th birthday, his wife pulled him aside.

What do you want to do for the rest of your life, she asked. More of the same?

Jung said he always dreamed of finding a cure for a human disease but never had the guts to try it. Some researchers worked years on developing a medication with nothing to show for it.

The day after his birthday, a colleague asked if he wanted to join a project dedicated to creating a prostate cancer drug. He took it as a sign, even though he knew almost nothing about prostate cancer. If nothing came of it, the worst people would think was that hed decided to retire early, he thought.

A couple years later, in 2009, he published a paper in Science, introducing enzalutamide, a molecule that could drastically alter the way prostate cancer was treated. While chemotherapy moves through the body quickly and indiscriminately, wiping out cancer cells and any other cells that divide quickly (like bone marrow), enzalutamide elegantly clicks into receptors on the surface of prostate cancer cells, blocking the hormones that cause them to grow.

Stephen Freedland, an oncologist at Cedars-Sinai, remembers the excitement around enzalutamide and other similar drugs.

There werent a lot of options for men. It was kind of like, Sorry, life sucks, Freedland says. Then all of a sudden we had a drug that could salvage a lot of these guys and just buy them time, a good quality of life.

Chemotherapy often leaves patients bed ridden with nausea. In contrast, patients on enzalutamide can usually maintain their normal lifestyles, only complaining occasionally about feeling a bit foggy. One of Freedlands patients said he couldnt lift as much at the gym, which is to say he, a late-stage cancer patient, was still working out.

In early clinical trials, late-stage prostate cancer patients who had already exhausted hormone therapies and chemotherapy, enzalutamide extended their lives by five months. In oncologist circles, the result was promisingusually treatments that work in late-stage cancer patients work even better for early stage patients.

Two years later, scientists stopped a clinical trial short after enzalutamide significantly reduced the risk of death in patients before they started chemotherapy, and in August, the FDA approved enzalutamide for patients before they even started hormone therapy.

Freedland thinks eventually enzalutamide could turn prostate cancer into a chronic illness something you can live with for years like diabetes or asthma.

We are in a renaissance period in the medical therapy of prostate cancer, an author of one of the clinical trials for enzalutamide said. Even at this early stage, enzalutamide is a game changer.

By weight, Xtandi is 65 times more expensive than gold. In the United States, that is 2.5 times the annual per capita income. In India, the name-brand drug costs more than 38 times the per capita income.

Rajeev Kumar, a urologist at a public hospital in Delhi, says if the patent were approved, almost none of his patients could afford the medication. Already, his patients struggle to afford the generic brands. Many of them run out of money a couple weeks into the treatment plan and stop taking the pills. Others, aware theyll inevitably exhaust their resources, refuse the prescription from the beginning.

With the patent, even his wealthiest patients would be unable to afford the medicine.

Liz Ketcham

In the United States, 80 percent of patients with insurance have a copay of less than $25 a month for Xtandi. In India, Kumar estimates less than 20 percent of his patients have insurance.If they do, their insurance policies usually cover a fixed amount of medical expenses for the entire family, which Xtandi would quickly deplete.

Rupam Borah has seen the worst of it in the hospital as he waits for his fathers appointmentschildren, mothers, and wives sobbing next to him, coming to terms with the fact that they cant afford medication.

Im still pushing for medicines and going desperate and having sleepless nights sometimes and all that but still look at people who are below us who cannot even imagine they will die, he says, shaking his head. Ive seen those kinds of people in hospitals. Ive seen them. I mean, they just cry. They are completely helpless.

Most of the men hes talked to in the hospital can scrape together enough for about a fourth of the cost of one box of enzalutamide. Sometimes he gives money to other patients at the hospital. Stretch it for as long as you can, he tells them.

If the pills became more expensive, Kumar isnt sure he would even prescribe enzalutamide to his patients anymore. A couple of months of life is only worth so much financial stress.

I know if I offered it to him he would take it and thatll end up destroying his family, he says. The next generation (will be) in debt for the next 10 years.

Even as an established doctor and professor at the most widely respected hospital in Delhi, one box of Xtandi would cost his entire monthly salary.

Would I give it all up to extend a couple of months? he says. Probably not.

Enzalutamide ultimately made the University of California more than a billion dollars. Even for the UC system, which owns the most patents of any American university, the drug generated more money than any other patent sale.

We are strategically supporting one of our essential missionsfunding and generating research with practical applications that serve the public good , Gene Block, the chancellor of UCLA, said in a university press release following the deal.

Except to many, it didnt seem as if the university was trying to serve the public good.

First, there was the billion dollars.

To R. Joseph Trojan, a pharmaceutical patent lawyer based in Los Angeles, it was simple economics: the more the UC charged for the patent, the higher pharmaceutical companies would have to price the medicine to recover what they had spent.

Where does it think the money was going to come from? he asks. It was coming out of the pockets of people who need the drug. Why are you driving up the cost of these drugs by demanding a billion dollar licensing fee upfront? That makes no sense at all.

Furthermore, although researchers used public funding from the National Institutes of Health and the U.S. Armys prostate cancer research program to discover Xtandi, UCLA was actively pursuing a patent that would make it inaccessible to the public. Meanwhile, money from the patent sale sits in a portfolio, generating $60 million dollars for UCLA every year.

Then there was the language in the licensing agreement. With no clause to protect developing countries, the agreement seemed to directly contradict the universitys own licensing guidelines, which say it should consider such public benefit and broad societal needs when developing licensing strategies.

John Mazziotta, the CEO of UCLA Health, says these ethical licensing guidelines are not always prescriptive, explaining there are a variety of complex and potentially contradictory issues that need to be taken into account when drafting such an agreement. Producing and testing medicine is expensive, Mazziotta argues. A pharmaceutical company might not agree to produce the medicine at all if there were a clause limiting the sales in developing countries.

Healthcare advocates have long been skeptical of that argument given that other companies, like the French NGO responsible for a successful gene therapy, included a reasonable pricing clause in their agreement and were still able to license the patent for millions.

Other institutions, like Harvard University, were able to include global access provisions in more than half of their pharmaceutical licensing agreements, clauses that allow generic companies in developing countries to produce their patented medications. They also allow Harvard to refuse to prosecute a patent in a developing country.

The UC created a committee in 2009 to oversee the inclusion of clauses that consider the needs of underserved people. These clauses have been included in 30 licensing agreements since 2018. Still, some argue this change was too little too late.

Without a global access provisions in the Xtandi agreement, if Medivation, a biopharmaceutical company that helped manufacture Xtandi, wanted UC to prosecute a patent that could take away medicine from thousands, the university has no legal avenue to refuse.

UC ultimately appealed the India patent decision on a technicality, claiming the patent office hadnt taken into account a piece of evidence. To argue its case, they hired Palaniappan Chidambaram, the former Union Minister of Finance in India. In October, Chidambaram was charged with corruption, forgery, and cheating by Indias Central Bureau of Investigations in October, and was granted bail in December. Chidambaram has denied wrongdoing.

Neda Ashtari, a second-year medical student at UCLA, stood on the stairs of Powell Library in October, dressed in all black.

In front of her were tens of white paper bags, each with a small plastic candle inside and a name scribbled on the front in colored marker. Students sprinkled plastic rose petals in between the bags, a sort of vigil for the lives lost as a result of UCLAs inaction to drop the patent on Xtandi, they wrote in a pamphlet.

Ashtari protested the patent appeal in India for years. In Regents meetings she stood in front of University of California leadership and demanded change.

Liz Ketcham

Can you imagine the guilt you would feel if all of your familys income went to your [medical] bills? Would you even want to live at that point? she asked. For one moment can you just step outside yourselves and imagine having to choose between the roof over your head and the (medicine) you needed to stay alive?

But on that day in October, standing in front of the bags of names, she seemed quieter more defeated than angry.

The pleading, public protests, and letters to the UC presidents officeone signed by 56 civil society organizations and doctors, then another with 3,500 signatures signed by students and advocacy groups had been mostly ignored.

To her, UCLAs choice to defend the Xtandi patent is personal. Her mother was diagnosed with breast cancer when she was four years old. For 12 years, as her mothers primary caregiver, she fought with insurance companies to get medication. She lost her house, her father left under the mounting stress over the cost of treatmentsand eventually her mother.

She says the worst part wasnt saying goodbye to her mom, it was knowing the same financial nightmare would happen over and over again.

They say time heals all wounds but it hasnt, she says, her voice breaking up. I still live with the consequences of these policies every day.

In a small coffee shop on the outskirts of New Delhi, Rupam Borah flips through pictures of his dogs on his phone.

Theres Bella, who he found badly beaten on the side of the road; Phi Phi, who he rescued on the way back from his vacation on Phi Phi Island, and Coco, whose paw was run over by a car.

He has a soft spot for stray dogs. He fosters stray puppies, pays to neuter dogs, and even puts out bowls of Purina dog food on the street in front of his house.

Feeding the dogs is getting harder. Paying for everything is getting harder.

Liz Ketcham

Rupams business has been slowly declining for months. When the economy is bad, the last thing people want to do is redecorate their houses, he says. Worried about the future of his company, he started teaching his employees the skills they would need to start their own businesses.

Regardless, he tries to stay positive, especially around his fatherhes seen too many children turn cold and resentful towards their parents under the financial strain of treatment.

He coos and zooms in on the well-groomed hounds as he goes through photos, occasionally stopping to take a sip from a clay cup of chai. In one, a dog with short white fur and pink ears is flashing a soft, squinty smile at the camera. In another, Rupam nuzzles into the dogs fur as the brown-and-white mutt playfully nibbles at the hand wrapped around him.

When he tells his story, he speaks calmly and matter-of-factly. If his mother were at the table, though, he wouldnt be able to keep it together, he said.

Hes wracked with guilt over the whole situationthat his oldest daughter walks dogs to help pay for her sisters tuition, that he had to take back money from his mother to cover the cost of medication.

Rupam doesnt blame his father for wanting the medicine, but he wouldnt choose enzalutamide for himself: I would opt for euthanasia any day.

RELATED: Developers Are Attempting to Evict an Elderly Cancer Patient from Her WeHo Apartment

Stay on top of the latest in L.A. food and culture.Sign up for our newsletters today.

Visit link:
UCLA's Fight to Patent a Life-Saving Cancer Drug Could Make the Medicine Virtually Unobtainable in India - LA Magazine

As we enter the New Year, health, wellness, and resolutions to eat better and get more exercise are priorities for most of us who have not yet made them permanent fixtures in our way of life. Whether you launch into 2020 with a keto or Mediterranean diet and/or join Orangetheory, Equinox or that cult (I mean gym) CrossFitor just subscribe to the burn more calories than you take in tried and true methodwe all start off with the best of intentions. In the last couple of years, the newest health threat has been sitting too muchin our offices and homesand we have seen the emergence of stand-up desks and "how many steps have you taken today" has become a normal part of everyday conversation. But maybe the most well-accepted cause and least understood "silent killer" that we collectively do a terrible job of managing is stress.

The human body functions best when it is in a state of homeostasisin a condition of balance, harmony, and stability. Our bodies have evolved to have a number of compensatory mechanisms to maintain a balance for pH, O2/CO2, electrolytes, glucose/insulin, immune response activation/de-activation, hormone levels, and many other physiological systems. When the homeostatic state for these physiological balances is thrown off due to genetic or environmental changes over time, they may eventually experience a number of problems in their mental and physical functions. This may result in a variety of symptoms from headaches, nausea, and exhaustion to more pronounced situations, such as high blood pressure, diabetes, auto-immune diseases, and cancer.

The medical community continues to elucidate the cause and effect relationship between bacteria, viruses, toxins and our genetics and how those lead to illness. Researchers and companies continue to develop new and better drugs, vaccines, medical devices, and even gene therapy and gene-editing technology to "fix us" when we get sick. But what about our "mind-body" connection? And no, that is not just a term used by alternative medicine charlatans. The connections between our physical and mental well being are well established if still poorly understood mechanistically. Psychosomatic Disorders are a set of physical diseases that are either caused or made worse by mental factors such as anxiety or stress. According to the Cleveland Clinic, depression can be caused by chronic illness and further exacerbate the illness thereby "causing a vicious cycle to develop."

The rates for depression that occurs with other medical illnesses is quite high (national average for depression without co-morbidities is ~7-10%):

A recent article in Psychology Today explains that stress is a constant in our lives; it is always in flux and that stress and our bodies' response to it is not in and of itself a bad thing. Think "fight or flight" our evolutionary response to making sure we didn't get eaten by that annoying dinosaur. That dino-stressor kicks off a cascade of hormones that elevate our blood pressure, heart rate and increase our energy burn presumably so we can outrun that T-Rex. That's all well and good, but I don't think I will need to outrun a dinosaur or even a lion anytime soon. So what if our bodies are exposed to other non-carnivore caused periodic high-level stressors or chronic state of stress that trigger these cascades? What does that do to our bodies?

In a recent review of the physiological effects of stress, scientists and clinicians have demonstrated the negative effects on everything, including our central nervous system, cardiovascular, immune, gastrointestinal and endocrine systems. We are all familiar with stress-induced headaches, difficulty sleeping, and upset tummies, but unmanaged stress can also negatively impact a person's cardiovascular system by increasing blood pressure and heart rate which over time can lead to "stress" cardiomyopathy or increased risk of heart attack and stroke. Studies have shown impairments in memory recall, as well as cognitive processing, are also linked to chronic stress.

Let's face it, we all encounter some form of stress usually on a daily basis. We have demanding workdays, tiresome and/or tedious long commutes to our jobs, worrying about bills and the demands and responsibilities that come with raising our kids. Speaking from experience, couples will also experience stress from their relationships at times and business owners can also be stressed out about the success of their personal enterprises. While we can all expect to be stressed out over something in our lives at some point, allowing ourselves to continually remain in a state of stress could lead to serious health problems.

Healthline reports people who are stressed usually have a hard time controlling their emotions. Sound familiar to anyone? These emotional outbursts can lead to or exacerbate already existing problems with our spouse (or significant other), friends, family or co-workers. This can lead to even more stress and physical illness.

So, as you make those New Year's resolutions, let's not lose sight of how important removing or managing our stress is to our health, happiness, and well being. Resolve to try to be more self-aware of your own stress and how it is affecting you and others around you. Don't be afraid to talk to your doctor, spouse, family or friends about things that are stressing you. There is no shame in speaking up and you can take comfort in the knowledge that you are definitely not alone. Take steps to remove stressors where you can. When that is not possible, identify and try a variety of ways to cope with, manage and reduce that stress. Look, I am not an expert on what works or doesn'tdifferent things work for different people. Maybe it's a long walk, listening to music, meditating, hitting the gym, playing a video game with your kids or just giving and receiving a BIG hug from your spouse.

Life is life and we will never be stress-freebut let's resolve to reduce our stress levels in 2020 and to help those around us as well.

Originally published at erikhalvorsen.org on January 9, 2020.

More:
The Deadly Effects of Stress on Our Bodies - Patch.com

Vision 2020

Few industries change as rapidly and as dramatically as the broad, multifaceted realm of healthcare. From oncologists use of cancer fingerprinting and gene therapy to facial transplants for accident victims; from cutting-edge protocols to save the lives of stroke and heart-surgery patients to a dizzying array of new treatments to improve vision the list is seemingly endless, making it impossible to paint a full picture of where healthcare has come in the past decade.

But we at BusinessWest wanted to try anyway and, at the same time, look ahead at what the next decade might bring. So, appropriately, here at the dawn of 2020, we invited a wide range of healthcare professionals to tell us what has been the most notable evolution in their field of practice in the past 10 years, and what they expect or hope will be the most significant development to come in the next decade.

The answers were candid, thoughtful, sometimes surprising, but mostly hopeful. Despite the many challenges healthcare faces in these times of advancing technology, growing cost concerns, and demographic shifts, the main thread is still innovation smart people working on solutions that help more people access better care. After all, healthcare is, at its core, about improving peoples lives, even when they seek it out during their direst moments.

Innovation and promise. Thats what we believe a new decade will bring to all corners of the healthcare world that is, if these leaders, and countless others like them, have anything to say about it.

Joanne Marqusee

President and CEO, Cooley Dickinson Health Care

Joanne Marqusee

The most significant recent development in healthcare administration has been a recognition of the role patients play in their own healthcare. Crossing the Quality Chasm: A New Health System for the 21st Century, published in 2001 by the Institute for Healthcare Improvement, called for a massive redesign of the American healthcare system. Specifically, it provided Six Aims for Improvement, five of which focused on safety, effectiveness, timeliness, efficiency, and equity. Not talked about as much, the sixth aim was to make healthcare patient-centered.

While we still have a ways to go to truly be patient-centered, we have witnessed a sea change in the past decade in this regard. Patients are increasingly active participants in their care, questioning their doctors and other providers to ensure that they understand their options, using electronic medical records to engage in their care, and speaking out about what they want from treatment or forgoing treatment at the end of life. The best healthcare providers both organizations and individuals embrace these changes, welcoming patients as more than recipients of care, but rather active partners in their own care and decision making.

My hope for the most significant development over the next decade has to do with providing universal healthcare coverage while controlling healthcare costs. While we almost have universal coverage in Massachusetts, too much of the nation does not. A hotly debated topic, universal healthcare has many benefits, including increasing access to preventive and routine medical care, improving health outcomes, and decreasing health inequalities.

Dr. Nicholas Jabbour

Chairman, Department of Surgery, Baystate Medical Center

Dr. Nicholas Jabbour

The most significant development in surgery over the past decade has been the move toward less invasive surgical approaches made possible through advanced technology. These approaches include robotic and minimally invasive surgery, including intraluminal surgery in areas such as gastroenterology, cardiology, and neurosurgery for exemple, the passage of an inflatable catheter along the channel inside of a blood vessel to enable the insertion of a heart valve instead of making a large opening in the chest. As a result, we have seen a big shift from inpatient to outpatient surgery with shorter hospital stays and improved post-op recovery.

In the next decade, we foresee these innovations in less invasive surgery will be enhanced by better computing and software integration. This interaction will include the merging of radiological and potentially pathological information which is currently available in a digital format with real-time visualization of anatomical structure during surgery. This will offer surgeons the opportunity to improve the accuracy and speed of a surgical procedure while minimizing the risks.

The next decade will also see major innovation in the area of transplantation with the development of tissues or whole organs through bio-engineering manipulation of animal or a patients own cells. The integration of this bio-engineering manipulation with currently available technology, such as 3D printing and 3D imaging, will provide patients with the needed tissue or organ including valves, bone grafts, hernia mesh, skin, livers, and kidneys in a timely manner. This development will revolutionize the field of transplantation and surgery in general.

Karin Jeffers

President & CEO, Clinical & Support Options Inc.

Karin Jeffers

Over the past 10 years, weve seen a growing adoption within the behavioral-health and medical fields of holistic treatment models. While the two disciplines were once treated as different animals, the entire health field is now moving to treat both the body and the mind together. The next 10 years are likely to bring these two fields even closer.

Today, youre seeing behavioral-health clinicians being hired into physical health practices. Likewise, physical health providers are cross-training to better understand behavioral issues. Whereas, a decade ago, a behavioral-health client might be assigned a therapist or a psychiatrist, they are now gaining access to more robust set of supports, including nursing, case management, recovery coaching, and peer support from those with lived experience. Government mandates and payment model changes are forcing outcomes-based integration, too. Pediatricians, for example, must now do behavioral-health screenings of all youth under 21. In the mental-health space, youre seeing clinicians ask about weight, exercise, and other physical factors.

Were seeing significant movement on both the state and federal levels to value outcomes over volume. Its reflected in the criteria set by the Excellence in Mental Health Act for certified community behavioral-health clinics, a designation CSO has earned, and in the work we have done with the Substance Abuse and Mental Health Services Administration. Our ability to tailor programs, like our grant-funded work at the Friends of the Homeless shelter in Springfield, has literally saved lives among those experiencing homelessness and co-occurring conditions, like substance-use disorders.

In the coming years, we hope to see integrated care models become even more mainstream. Things appear headed in the right direction, but government action establishing payment reform within the behavioral-health field needs to be taken and the integrated models need to be appropriately funded. Such changes would affirm overall health and wellness to include both physical and behavioral health.

Dr. Yannis Raftopoulos

Director, Holyoke Medical Center Weight Management Program

Dr. Yannis Raftopoulos

Weight management is a rapidly evolving field, and I am fortunate to be part of it. One of the most significant innovations this field has experienced in the last 10 years was the development of a new gastric balloon. Packaged in a small capsule and swallowed with water, the Elipse balloon provides satiety while requiring no procedure or anesthesia for its placement and removal. Together with its excellent safety profile, the Elipse balloon is the least invasive and yet effective weight-loss modality available today. Elipse is manufactured in Massachusetts by Allurion Technologies.

I had the opportunity to be an investigator in the European trial which led to the Elipse market approval in the European Union in 2016. Recently, Holyoke Medical Center was among 10 U.S. sites in which an FDA-regulated trial was conducted. The trial was completed successfully, and Allurion has submitted data requesting FDA approval to market Elipse in the U.S. The balloons use in Europe shows that patients can lose more than one-fifth of their initial weight.

A New England Journal of Medicine study reported that 107.7 million children and 603.7 million adults, among 195 countries, were obese in 2015. High body-mass index accounted for 4 million deaths and contributed to 120 million disability-adjusted life-years. Obesity is a chronic disease, and its management requires long-term guidance and close patient-physician communication. Successful collaborations between existing best practices with technology innovations that will allow delivery of effective weight-management care on a massive and global scale could be the most significant evolution in the field in the next 10 years.

Dr. Hong-Yiou Lin

Radiation Oncologist, Mercy Medical Center

Dr. Hong-Yiou Lin

The advent of new medical oncology drugs has improved control of microscopic and, to a lesser extent, macroscopic disease, allowing local treatments, such as surgery or radiotherapy, to increase survival. To cure cancer, we need to eliminate cancer cells where they started, as well as any microscopic cells traveling through the body. The idea of using immunotherapy to fight cancer has been around for decades, but bringing this idea to the clinic has been hampered by the cleverness of cancer cells knowing how to evade detection by our immune system. Recently FDA-approved immunotherapy either takes away that invisibility cloak or wakes up our dormant immune cells to start fighting cancer.

The biggest development in oncology in the next 10 years will be personalized precision medicine, which allows the oncology team to tailor treatment to each patients unique cancer biology and life circumstances. Meanwhile, improvements in cancer diagnosis will come from novel PET radiotracers and new MRI sequences that allow for more accurate staging and identification of the best site to biopsy. Pathologists will use novel tools such as genome sequencing to supplement traditional microscopy to subclassify the specific type of cancer within a certain diagnosis instead of grouping into broad categories.

Surgical, medical, and radiation oncologists can then use the above information to decide on the best sequencing between surgery, systemic therapy, and radiotherapy to minimize side effects and maximize cure. Medical oncologists will be able to offer more drugs that target new mutations, overcome drug resistance, increase specificity to a mutation, or better fine-tune immunotherapy, targeting only cancer cells by enlisting gene modification as well as natural killer cells. Radiation oncologists will have new radiomic and genomic tools to personalize the radiation dose and volume, and when to offer radiotherapy.

In short, over the next 10 years, cancer care will continue to move away from the traditional one-size-fits-all model toward a more personalized approach.

Dr. Jonathan Bayuk

Medical Director, Allergy & Immunology Associates of New England

Dr. Jonathan Bayuk

There have been incredible and exciting advances in allergy and immunology in the last two years. However, the unmet needs of allergic and autoimmune-disease-afflicted patients has grown dramatically in the last 20 years. In response to the increasing prevalence and acuity of allergic diseases and autoimmune diseases, the world has launched products to help address these very severe patients. These medications are indicated for many conditions and work very well. They are generally safe, but are very expensive. These medicines are different than traditional pharmaceutical drugs as they are not chemicals, but biologically derived medicines designed to augment or modify the immune response. As such, they are call biologic medications.

In the field of allergy and immunology, we can now dramatically treat and potentially cure many diseases that in the past were very challenging to manage. The biologic medicines that we have now treat asthma, eczema, allergic disease, and hives. The patient selection is based on severity of their condition, and these medicines are only for moderately to severely affected people. If, as a medical profession, we were to place as many people as possible on these therapies, the cost would be astronomical and not sustainable.

However, is it fair to deny any of these patients access to these treatments who truly need them? I would argue that choice is a very difficult one to make, and as physicians, our primary goal is healing at whatever cost. As a nation, we have a dilemma. Can we afford the medicines we have or not? It is unclear that any serious legislative body is willing to tackle that question. For now, the use of these medicines is changing lives dramatically, and it is an exciting time to be able to use these newer tools to help our patients live better lives.

Dr. David Momnie

Owner, Chicopee Eye Care

Dr. David Momnie

What are the most significant advancements in eye care in the last decade? It depends on whom you ask. Retinal ophthalmologists would probably say its the treatment of wet macular degeneration, a leading cause of blindness, with anti-VEGF injections. Cataract surgeons would most likely cite small-incision surgery and new lens implants that often leave patients with 20/20 vision. Glaucoma specialists might tell you its the development of MIGS, or minimally invasive glaucoma surgery. These operations to lower the pressure in the eye use miniature devices and significantly reduce the complication rate.

Primary-care optometrists and ophthalmologists would no doubt talk about the advances in optical coherence tomography, a remarkable instrument using light waves that gives cross-sectional pictures of the retina. The technique is painless and non-invasive and is becoming the gold standard in eye care because it has revolutionized the diagnosis and treatment of glaucoma and macular degeneration. For optometrists specializing in contact lenses, using newly designed scleral lenses to restore vision in people with a corneal disease called keratoconus has been a major development. There are many other specialists in eye care, including LASIK surgeons, that have seen remarkable changes in technology.

What will the next decade bring? Artificial intelligence (AI) is becoming more accurate for screening, diagnosing, and treating eye conditions. AI systems can increasingly distinguish normal from abnormal pictures of the retina. Where there is a shortage of ophthalmologists and optometrists, AI screenings combined with telemedicine, providing remote care using communications technology, may be able to find and treat more people who are falling between the cracks of our healthcare system. The term 20/20 is the most common designation in eye care, and the year 2020 will probably usher in another decade of remarkable developments in our field.

Teresa Grogan

Chief Information Officer, VertitechIT

Teresa Grogan

From the perspective of technology that enables healthcare, the biggest game changer of the last decade has been the iPhone and now, essentially any smartphone.

Steve Jobs introduced the first iPhone in 2007 (a little over a decade ago), and physicians embraced it quickly. It started as a simple tool for doctors (applications like the PDR, or Physicians Desk Reference) for looking up drug interactions. Today, its a portable EMR, a virtual visit facilitator, and a remote-monitoring device for many healthcare providers, as many patients have embraced and insisted on this technology to improve access to care. As the cost decreases and cellular bandwidth improves, the rapid growth of the IoMT (Internet of Medical Things) will place smartphones at the center of the next wave of healthcare technology breakthroughs.

Looking forward, Id like to see complete elimination of passwords to access electronic information. While there has been some movement toward this with tap and go badges and fingerprint readers, a single standard is needed that would work regardless of the software program used. I hope there are greater strides in the creation, deployment, and adoption of other biometric technologies, like iris, face, or voice recognition, so that a healthcare professional could walk into a patient room or into a hospital and the computer systems would know his or her identity in immediate and secure fashion. If access to the data needed by a healthcare provider were as easy as turning on a light switch, the improvements in quality of life and efficiency in work for that provider would translate to improved patient outcomes.

Dr. Aaron Kugelmass

Vice President and Medical Director, Heart and Vascular Program, Baystate Health

Dr. Aaron Kugelmass

We have seen many improvements in cardiovascular care over the last 10 years, but the development, approval for clinical use, and dissemination of transcutaneous aortic valve replacement (TAVR) stands out as the most dramatic. This new technique allows cardiologists and cardiac surgeons, working together, to replace the aortic valve without opening a patients chest or utilizing heart-lung bypass, which has been the standard for decades. This less invasive approach is typically performed under X-ray guidance and involves accessing a blood vessel in the leg and guiding a catheter to the heart.

The TAVR procedure was first approved for clinical use in November 2011. It was initially limited to very sick patients, who were not candidates for traditional surgery because of the risk it posed to them. TAVR allowed patients who otherwise could not receive life-saving valve surgery to have their valves replaced with improvement in longevity. With time and experience, the procedure was approved for lower-risk patients as well, and more recently has been approved for the majority of patients, including those with low operative risk. TAVR has been shown to be equivalent or safer than traditional aortic valve-replacement surgery, and is quickly becoming the procedure of choice for most patients who require an aortic valve replacement. Since the procedure typically does not require open-heart surgery, recovery time is much shorter, with some patients going home within a day or two.

In the next 10 years, we expect that similar less-invasive procedures with shorter recovery time will be developed for other heart-valve conditions in patients who otherwise could not receive therapy.

Beth Cardillo

Certified Dementia Practitioner and Executive Director, Armbrook Village

Beth Cardillo

During the last 10 years, neuroscientists have been researching the causes of Alzheimers disease. There has been much discussion about which comes first the amyloid plaque or the fibrillary tangles that develop in the brain, which are roadblocks to cognition, thus causing the difficulties with Alzheimers and other related dementia. That question has not been answered yet. Researchers were able to isolate the APOE gene, which is a mutant gene that is found in familial Alzheimers disease, helping us to better diagnose it. We have also better understood how diet, exercising both body and brain, and lifestyle contribute to the disease. Currently there are 101 types of dementia, with Alzheimers accounting for 75% of cases.

The next 10 years will result in more preventive actions. One major action will be to help people avoid developing type 2 diabetes, which may be labeled the next cause of Alzheimers (this type of Alzheimers is already being called type 3 diabetes). There has been a major link between sugar in the hippocampus and Alzheimers disease. Though there is no cure yet for Alzheimers, we are finding more information based on genetics, diet, and PET scans, which can show shrinkage in the brain.

Every year, researchers are more hopeful that a new drug will be developed to eradicate the disease. The last new drug from Biogen was looking hopeful in clinical trials, but that turned out to be not the case. Prevention continues to be at the forefront, as well as participating in clinical trials. More people who do not have dementia or mild cognitive impairment are desperately needed for clinical trials so comparisons of the brain can be made.

Ellen Furman

Director of Nursing, American International College

Ellen Furman

As in all healthcare, the one thing that can be ascertained is constant change. The same can be said in nursing education today. No longer is the instructor-led lecture method of teaching considered best practice in education, but rather the shift to using class time to apply learned concepts. One way this is done is through the flipped classroom. Using this educational modality, students study the concepts being taught preceding the class, followed by class time where students apply these concepts in an interactive activity, thereby developing students abilities to think critically, reason, and make healthcare judgements based upon the application of knowledge.

Another change in nursing education is an expanded focus away from pure inpatient (hospital-based) clinical education to outpatient (community-based) clinical education. While hospital-based education remains essential, the realization that most healthcare provided is in outpatient settings has broadened the clinical experiences required to prepare the graduate registered nurse for care provision.

Additionally, with healthcare as complex as it is, nursing students are being taught to be prepared for entry into practice. Education regarding the use of evidence-based practice, how to apply for the licensure examination, preparation to be successful on the National Certification Licensure Exam, nurse residency opportunities, interviewing techniques, transitioning from student nurse to registered nurse, etc. are all taught using a variety of educational modalities based upon the current best available evidence in nursing education.

As we forge ahead in healthcare, nurse educators will continue to evolve to meet healthcare needs through the education of nursing students so as to prepare them to provide care to meet the needs of those we serve well into the future.

James Haas

Co-owner, Orthotics & Prosthetics Labs Inc.

James Haas

Advances in prosthetic technology have clearly been the most significant development in my field over the past decade. From knees and feet that adapt to different walking speeds and terrains to hands that send sensations of touch to the brain, every aspect of patient care has changed and continues to change at a rapid pace.

Prosthetic feet, knees, and sockets have been greatly impacted. Once made from multi-durometer foams and wood, the prosthetic feet of today are made from carbon, fiberglass, and kevlar laminated with modified epoxy resins. They store energy and adjust to uneven terrain and hills. Microprocessor knees have on-board sensors that detect movement and timing and then adjust a fluid/air control cylinder accordingly. These knees not only make it safer for a person to walk, they also lower the amount of effort amputees must use, resulting in a more natural gait. Sockets once made from stiff materials are now incorporated with soothing gels and flexible adjustable systems that allow a patient to make their own adjustments to improve their comfort.

As for the next decade, I hope to see national insurance fairness. Devices typically last about three to five years. Some people make them last longer, but others, especially growing children, need replacements more often. Many private insurance plans have annual caps and lifetime limits on coverage for orthotics and prosthetics. The Amputee Coalition of America authored insurance-fairness legislation and has lobbied for its implementation for over a decade. This legislation has been ratified in 20 states, including Massachusetts. The Fairness Act requires all insurance policies within the state to provide coverage for prosthetics and orthotics equal to or better than the federal Medicare program and have no coverage caps and lifetime restrictions.

Dr. Lisa Emirzian

Co-owner, EMA Dental

Dr. Lisa Emirzian

The most significant development in the field of dentistry over the past decade has been the integration of digital technology into our daily practices. There are three components of digital dentistry: data acquisition, digital planning, and, finally, the manufacturing of the restoration to be created. Data acquisition today is accomplished with digital radiographs, paperless charting, intra-oral scanners, cone-beam 3D scanners, and video imaging. For the planning process, we now have the ability to merge the data with software that enables computer-aided design and digital smile design, allowing dentists to perform complex procedures, including guided surgical treatments and smile designs, with optimum results. Fabrication and execution of the final restorations can be done in the office or, more often, in laboratories with highly sophisticated digital milling machines, stereolithography, and 3D printing.

In the next decade, we will see data fusion to ultimately create the virtual patient. The next-generation digital workflow will merge intra-oral 3D data with 3D dynamic facial scans, allowing dentists to create 3D smile designs and engineer the dentofacial rehabilitation. The integration of scanners and software will expedite the delivery of teeth in a day. In addition, multi-functional intra-oral scanners will allow for early detection of carious lesions and determine risk levels for different patients.

Above and beyond this foreseeable future, artificial intelligence (AI) will be the next paradigm shift. Companies are already looking for big-data collection and deep machine learning to help the practitioner in their everyday chores of diagnosis and treatment. AI cloud-based design platforms will input data, and AI engines in the background will aid in all parts of dental treatment, including diagnosis, design, and fabrication of final restoration.

Let us not forget one thing: the future is all about us people utilizing technology to enhance the human connection between doctor and patient.

John Hunt

CEO, Encompass Health Rehabilitation Hospital of Western Massachusetts

John Hunt

A significant rehabilitation development from the past includes one that may surprise you. Time. A luxury we once knew, time meant patients could recover in a hospital longer after a surgery, an accident, or an illness. Nurses had more time to assess patients to know exactly what they needed. Insurance companies approved longer patient stays through lengthy consideration. Ten years ago, a stroke survivor could recover for two weeks in a hospital and then join us for a rehabilitation stay that would last several weeks.

Today, a three- to five-day stay in the referring hospital, followed by a two-week stay in rehabilitation, is the norm. We are seeing significant decreases in the age of stroke survivors as well as an increase in the number patients who survive with cognitive and physical disabilities. Yet, we also see medical breakthroughs, including the discovery of tissue plasminogen activator (TPA) nothing short of a miracle. TPA actually reverses the effects of an evolving stroke in patients when used early on, making recoveries easier.

With new advanced technologies being introduced every year, rehabilitation continues to progress at a rapid speed. Looking into the future, evidence-based research will continue to grow to help us make knowledgeable decisions that ultimately impact patient outcomes. Increased clinical expertise will lead to higher functional gains in shorter amounts of time. As a result, acute inpatient rehabilitation will impact the lives of patients like weve never seen before.

Dr. Susan Bankoski Chunyk

Doctor of Audiology, Hampden Hearing Center

Dr. Susan Bankoski Chunyk

The most common treatment for hearing loss is hearing aids. Although digital processing has been available in hearing aids since 1996, the past 10 years have offered great leaps in technology for people with hearing loss. Each generation of computer chip provides faster and smarter processing of sound. Artificial intelligence allows the hearing-aid chip to adjust automatically as the listening environment changes, control acoustic feedback, and provide the best speech signal possible. People enjoy the convenience of current hearing aids Bluetooth streaming, smartphone apps, and rechargeable batteries.

These features are the icing on the cake, but the real cake is preservation of the speech signal, even in challenging listening situations. Since the primary complaint of people with hearing loss is understanding in noise, new hearing-aid technology works toward improving speech understanding while reducing listening effort in all environments. This significantly improves the individuals quality of life.

The negative effects of untreated hearing loss on quality of life are well-documented. Recent research has also confirmed a connection between many chronic health conditions including diabetes, cardiovascular disease, kidney disease, balance disorders, depression, and early-onset dementia and hearing loss. This research shows that hearing loss is not just an inevitable consequence of aging, but a health concern that should be treated as early as possible. My hope for the future is that all healthcare providers will recognize the value of optimal hearing in their patients overall health and well-being and, just as they monitor and treat other chronic health conditions, they will recommend early diagnosis and treatment of hearing loss.

Continued here:
The Region's Health Leaders on What's New and What the Next Decade Will Bring - Business West

Im not sure how the task fell to me, but over the years I have become my familys de facto genealogist. To my amateur sleuthing credit, I have uncovered more secrets and put to bed more family rumors than one could imagine. During my quest to learn more about my family heritage, I purchased a 23andMe genetic test, which can tell you not only the geographical roots of your human existence but also your migration routeand even genetic traits like the fear of public speaking. What I didnt realize at the time was the treasure trove of information that existed on the back end of a 23andMe test, information that may be even more important to my well-being and that of my descendants than knowing the likelihood that I move more than average during sleep.

This rich data is already collected as a part of these tests but is not directly reported to the user. It contains information on vulnerabilities in nutrition, inflammation, and detoxification capacity; susceptibility to heart or neurological disease, cognitive or mood dysfunction, and cancer; and deficiencies in cellular metabolism, including which nutrients are in higher demand. This is the kind of imperative knowledge I wanted to have, so I set out to find a professional to analyze it.

The journey took me to the Strata Integrated Wellness Spa at Garden of the Gods Resort & Club in Colorado Springs, Colorado, where I checked into one of its new casitas for a long weekend. There, Karly Powell, a registered naturopathic doctor with expertise in therapeutic nutrition and functional biochemistry, has developed a program called Decode Your DNA. In it, she conducts a specialized analysis of the raw data of a clients DNA to provide an understanding of an individuals genetic health background and deficiencies and then creates a personalized wellness plan.

According to Dr. Michael Barber, Stratas medical director, the most common issues are found are in the so-called methylation pathways, which control how our bodies handle nutrients, supplements, and medications. Abnormalities in these pathways can influence the risks for neurological, cardiac, cardiovascular, gastrointestinal, and other systemic illnesses. With my newly analyzed DNA information, Powell crafted a custom-made, gene-based prescription for me that included a long-term dietary program, targeted nutritional supplementation, and lifestyle modifications.

That weekend, I began to make her suggested modifications and utilized the doctors, physicians, clinicians, and therapists at Strata. Strata is one of the few spas in the country that offer this kind of personalized medicine paired with bespoke nutrition and fitness, as well as the opportunity to address cardiology, kinesiology, and energy needs in the same facility.

Many people say that your genesgeneticsare not your future but your potential, Barber says. Knowing in advance where one might be susceptible to issues such as heart disease, cognitive or mood dysfunction, cancer, or nutritional issues may allow a person to alter critical components of diet, exercise, [and] lifestyle to maximize their potential for optimal health.

See the article here:
Conducting Gene Therapy in Colorado - dujour.com

LOS ANGELES, Jan. 7, 2020 /PRNewswire/ --Seeing the world through the eyes of a child is often filled with wonder and imagination. It should not include things like hospital beds, needles and chemotherapy. Sadly, these things are a reality for kids with cancer. To raise awareness about childhood cancers and the need to fund research to find cures and better treatments, the St. Baldrick's Foundation, a non-profit on a mission to defy childhood cancers, introduces its 2020 Ambassadors. The five Ambassador families, each touched by childhood cancer, will share their journeys of struggle and triumph, hope and despair, and give people a glimpse into their lives and what comes after hearing those life-changing words, "Your child has cancer."

Coming from all areas of the country, ages, disease types and stages of their cancer journey, the Ambassadors represent the more than 300,000 kids diagnosed with cancer each year worldwide and serve as a reminder that cancer doesn't discriminate.

This year's Ambassadors are:

Seth and Joel Deckerare identical twins with a very special bond not even cancer could separate. The twins did everything together. Along with their older brother, Nathaniel, they filled the Decker home with the sound of laughter and play. Seeing the boys push vehicles around and make loud noises or roar and stomp around pretending to be dinosaurs were familiar sights. But in an ironic twist of fate, the twins were both diagnosed with cancer: Seth was diagnosed with a rare form of acute myeloid leukemia (AML) in December 2016 and three months later, a biopsy revealed Joel also had AML. With the overlapping diagnoses and treatments, the family endured months of separation and treasured the few weeks they could be together at home. Despite both boys receiving bone marrow transplants and enduring complications from the procedures, they relapsed. Surrounded by their loving family, Joel died November 2017 at the age of 3, followed by Seth in May 2019 when he was 4 years old. The Decker family firmly believes much more research is needed for AML, especially when the disease has relapsed. They have created a St. Baldrick's Hero Fund in memory of Joel and Seth to support research that will help find new treatments and cures so other families won't have to say goodbye too soon.

Hudson Walker, 1, from Englewood, Colo., was diagnosed with Ewing sarcoma in February 2019, a rare disease that makes up only 2 percent of all childhood cancers and is very uncommon in babies. Chemotherapy began right away and surgery to remove her scapula resulted in the good news of clean margins. Hudson had a positive attitude through it all, even looking forward to going to the hospital to see the doctors, nurses and therapists who had become her friends. While happy she is cancer free after treatment, her parents know that her cancer journey is not over. As she grows, they will need to remain vigilant with monitoring potential late effects from chemotherapy. But for now, Hudson is enjoying each day, loving her family and her favorite things: queso, french fries, the color pink, unicorns, the movie Aladdin, and all kinds of music especially Lizzo and Kacey Musgraves. Armed with her sparkling personality and the bravery many of us only dream of, Hudson's family is confident she can take on any challenge life puts in her path.

Micah Bernstein, 9, from Carlsbad, Calif., has spent the bulk of his life fighting cancer. Micah was diagnosed with neuroblastoma in March 2012 at just 15 months old. He's had three surgeries, 21 cycles of chemotherapy and 36 sessions of radiation. Two separate phases of his treatment were centered around Unituxin, an immunotherapy drug developed with support from St. Baldrick's that received FDA approval while Micah was in treatment. Since then, Micah's blood work and scans have been clear for more than five years and he's been completely off treatment for nearly a year, which means an important milestone for Micah his first survivorship clinic visit in 2020. Micah is very interested in science and wants to become a doctor. He even has a message for researchers involved with St. Baldrick's: "Thank you for creating new medicines for kids with cancer. Those medicines save kids' lives, and one of them saved mine." Micah's parents, Jeff and Kate, are very passionate about helping to fund the most promising childhood cancer research and have established a St. Baldrick's Hero Fund, the Mighty Micah's Mission Fund, aiming to raise at least $100,000 to fund neuroblastoma research.

Austin Schuetz, 11, from Fall River, Wis., was diagnosed with a high-risk form of acute lymphoblastic leukemia just before his third birthday. Austin faced 3 years of treatment including intense chemotherapy, bone marrow biopsies, and six days of daily cranial radiation. Before Austin could finish treatment, he relapsed. At that point, a bone marrow transplant was his only option for a cure. When that didn't work to eradicate the leukemia, Austin needed a miracle. That miracle came in the form of a gene therapy that uses a child's own immune system to fight the cancer. Austin was accepted in a clinical trial, supported by the St. Baldrick's Foundation, that would collect his T-cells in a lab and train them to seek out and kill the cancer cells. The treatment worked, and Austin is now six years out from the clinical trial that saved his life. Because of research, Austin can enjoy the things he loves, like video games, basketball and Nerf guns.

Shamari Brazile, 14, from Cleveland Heights, Ohio, was diagnosed with osteosarcoma when she was 13 years old. In November 2017, during the middle of basketball season, she complained of pain in her right hip. When the pain didn't improve, tests revealed a mass on her pelvis. Shamari was diagnosed with osteosarcoma in March 2018 and started treatment right away. She endured 10 weeks of inpatient chemotherapy and surgery to remove the tumor, followed by 18 more weeks of chemotherapy before finishing treatment in December 2018. Less than three months after her last treatment, Shamari was already back on the lacrosse field, playing her favorite sport. In her free time, she also enjoys hanging out with friends, listening to music, drawing, teaching herself how to play the ukulele and writing short stories.

St. Baldrick's Ambassadors and their families will act as spokespeople for the St. Baldrick's Foundation, attend events and fundraisers and share their stories to educate the public about the realities of childhood cancers.

Continue following these six courageous storieson the St. Baldrick's blogand social media channels: Facebook,Twitter,YouTubeandVimeo. To learn how you canget involvedvisitwww.StBaldricks.org.

About St. Baldrick's FoundationAs the largest private funder of childhood cancer research grants, the St. Baldrick's Foundation is leading the charge to take childhood back from cancer. St. Baldrick's funds some of the most brilliant childhood cancer research experts who are working to find cures and better treatments for all childhood cancers. Kids need treatments as unique as they are and that starts with funding research just for them. Join us at StBaldricks.org to help support the best childhood cancer research, no matter where it takes place.

SOURCE St. Baldrick's Foundation

http://www.stbaldricks.org

See the original post:
Meet the St. Baldrick's Foundation 2020 Ambassadors - PRNewswire

IN the summer of 2019, a mother in Nashville, Tennessee in the United States, with a seemingly incurable genetic disorder finally found an end to her suffering by editing her genome.

Victoria Grays recovery from sickle cell disease, which had caused her painful seizures, came in a year of breakthroughs in one of the hottest areas of medical research gene therapy.

I have hoped for a cure since I was about 11, the 34-year-old said.

Since I received the new cells, I have been able to enjoy more time with my family without worrying about pain or an out-of-the-blue emergency.

Over several weeks, Grays blood was drawn so that doctors could get to the cause of her illness stem cells from her bone marrow that were making deformed red blood cells.

The stem cells were sent to a Scottish laboratory, where their DNA was modified using Crispr/Cas9 pronounced Crisper a new tool informally known as a molecular scissors.

The genetically-edited cells were transfused back into Grays veins and bone marrow. A month later, she was producing normal blood cells.

Medics warn that caution is necessary, but theoretically, she has been cured.

This is one patient. This is early results. We need to see how it works out in other patients, said her doctor, Haydar Frangoul, at the Sarah Cannon Research Institute in Nashville.

But these results are really exciting.

In Germany, a 19-year-old woman was treated with a similar method for a different blood disease beta thalassemia.

She had previously needed 16 blood transfusions per year. Nine months later, she is completely free of that burden.

For decades, the DNA of living organisms such as corn and salmon has been modified. But Crispr, invented in 2012, made gene editing more widely accessible.

It is much simpler than preceding technology, cheaper and easy to use in small labs.

The technique has given new impetus to the perennial debate over the wisdom of humanity manipulating life itself.

Its all developing very quickly, said French geneticist Emmanuelle Charpentier, one of Crisprs inventors and the co-founder of Crispr Therapeutics, the biotech company conducting the clinical trials involving Gray and the German patient.

Gene cures

Crispr was the latest breakthrough in a year of great strides in gene therapy, a medical adventure that started three decades ago, when the first TV telethons were raising money for children with muscular dystrophy.

Scientists practising the technique insert a normal gene into cells containing a defective gene.

It does the work the original could not, such as making normal red blood cells in Grays case or making tumour-killing super white blood cells for a cancer patient.

Crispr goes even further: instead of adding a gene, the tool edits the genome itself.

After decades of research and clinical trials on a genetic fix to genetic disorders, 2019 saw a historic milestone: approval to bring to market the first gene therapies for a neuromuscular disease in the US and a blood disease in the European Union.

They join several other gene therapies bringing the total to eight approved in recent years to treat certain cancers and an inherited blindness.

Serge Braun, the scientific director of the French Muscular Dystrophy Association, sees 2019 as a turning point that will lead to a medical revolution.

Twenty-five, 30 years, thats the time it had to take, he said. It took a generation for gene therapy to become a reality. Now, its only going to go faster.

Just outside Washington, at the US National Institutes of Health (NIH), researchers are also celebrating a breakthrough period.

We have hit an inflection point, said US NIHs associate director for science policy Carrie Wolinetz.

These therapies are exorbitantly expensive, however, costing up to US$2 million (RM8.18 million) meaning patients face grueling negotiations with their insurance companies.

They also involve a complex regimen of procedures that are only available in wealthy countries.

Gray spent months in hospital getting blood drawn, undergoing chemotherapy, having edited stem cells reintroduced via transfusion and fighting a general infection.

You cannot do this in a community hospital close to home, said her doctor.

However, the number of approved gene therapies will increase to about 40 by 2022, according to Massachusetts Institute of Technology (MIT) researchers.

They will mostly target cancers and diseases that affect muscles, the eyes and the nervous system.

In this Oct 10, 2018, photo, He speaks during an interview at his laboratory in Shenzhen, China. The scientist was recently sentenced to three years in prison for practicing medicine illegally and fined 3 million yuan (RM1.76 million). AP

Bioterrorism potential

Another problem with Crispr is that its relative simplicity has triggered the imaginations of rogue practitioners who dont necessarily share the medical ethics of Western medicine.

In 2018 in China, scientist He Jiankui triggered an international scandal and his excommunication from the scientific community when he used Crispr to create what he called the first gene-edited humans.

The biophysicist said he had altered the DNA (deoxyribonucleic acid) of human embryos that became twin girls Lulu and Nana.

His goal was to create a mutation that would prevent the girls from contracting HIV (human immunodeficiency virus), even though there was no specific reason to put them through the process.

That technology is not safe, said Kiran Musunuru, a genetics professor at the University of Pennsylvania, explaining that the Crispr scissors often cut next to the targeted gene, causing unexpected mutations.

Its very easy to do if you dont care about the consequences, he added.

Despite the ethical pitfalls, restraint seems mainly to have prevailed so far.

The community is keeping a close eye on Russia, where biologist Denis Rebrikov has said he wants to use Crispr to help deaf parents have children without the disability.

There is also the temptation to genetically edit entire animal species, e.g. malaria-causing mosquitoes in Burkina Faso or mice hosting ticks that carry Lyme disease in the US.

The researchers in charge of those projects are advancing carefully however, fully aware of the unpredictability of chain reactions on the ecosystem.

Charpentier doesnt believe in the more dystopian scenarios predicted for gene therapy, including American biohackers injecting themselves with Crispr technology bought online.

Not everyone is a biologist or scientist, she said.

And the possibility of military hijacking to create soldier-killing viruses or bacteria that would ravage enemies crops?

Charpentier thinks that technology generally tends to be used for the better.

Im a bacteriologist -- weve been talking about bioterrorism for years, she said. Nothing has ever happened. AFP Relaxnews

Read the rest here:
Gene editing breakthroughs that cured genetic diseases in 2019 - The Star Online

Abstract / Synopsis:

Google-Ascension deal ignites private data debate

It is a capital mistake to theorize before you have all the evidence. Sherlock Holmes, A Study in Scarlet

I was invited to participate in a recent panel about emerging trends in the future of healthcare. Artificial intelligence, telemedicine, gene therapy, and immuno-oncology are all fascinating scientific advances that people like to think about.

As we enter another election cycle, some politicians are calling for dramatic overhauls of the U.S. healthcare system. This includes price controls and European-style, mandatory single-payer governmental insurance (Medicare for All), which suggest the possibility of enormous change in how this huge industry works.

Previously by Dr. McDonnell: The problem with patient reviews

The panel discussion was moving along in a reasonable way and the audience of a few hundred seemed to be listening closely. Each panelist would address the question asked of him or her and the room was otherwise fairly quiet. If the moderator or a panelist inserted a little humor into the discussion, the audience would laugh politely, but that was about it.

Then a question was asked of one of my fellow panelists: There is tremendous interest in many sectors (insurance companies, pharmaceutical companies, researchers, etc.) in obtaining and analyzing the healthcare data of large numbers of patients. My question to you is: Who owns that data?

The panelist, an executive of a medical device manufacturer, responded quickly. Patients own their data. After a one-second pause, the audience, previously quiet, burst into loud applause.

People clearly care a great deal about this issue, was my immediate thought.

Related: Hospital closures hurt

The recent revelation about the existence of Project Nightingale and the ensuing uproar were both interesting and predictable. The Wall Street Journal reported that Google began the project in secret last year with St. Louis-based Ascension, a Catholic chain of 2,600 hospitals, doctors offices and other facilities and the second largest health system in the United States.

The data involved in the initiative encompasses lab results, doctor diagnoses and hospitalization records, among other categories, and amounts to a complete health history, including patient names and dates of birth. Neither patients nor doctors have been notified. At least 150 Google employees already have access to much of the data on tens of millions of patients.

As I understand it, based on news reports I have read, Ascensions position maintains that analyzing the data using artificial intelligence and machine learning will result in strategies to ultimately improve care of patients. The assertion is that the use of the data for this purpose is legal and ethical, and the companies did not need to secure permission from patients to start mining the data and did not need to inform its doctors that this huge data mining project was under way.

Not everyone else is so sure. According to Ellen Clayton, professor biomedical ethics at Vanderbilt University, the optics are bad.

The legal argument is tenuous, she said. Ethically, this is a bad strategy. They need to tell people what they are doing.

Related: How AI benefits patients and physicians

U.S. senatorsincluding Sen. Bill Cassidy, a Louisiana Republican who is a physicianare expressing concern about the program, calling for a moratorium or investigation or proposing legislation.

Again, according to The Wall Street Journal, Google wouldnt disclose the financial terms of the deal with Ascension. Nor would it say who at Google is allowed to access the data.

Lets presume the motives of all involved in Project Nightingale are pure. That does not change the fact that Americans do not want their data shared in secret deals. Having this program come to light this way was a mistake by both corporations.

Read more editorials here

References:

1.Googles Project Nightingale Gather Personal Health Data on Millions of Americans. WSJ. Nov 11, 2019

Original post:
Perils of Project Nightingale - Ophthalmology Times

Besides telemedicine, other technologies like wearables, robotic surgery and cutting-edge genomic technology will continue to trend in 2020.

Fremont, CA: Telemedicine will be the root cause for the next level of development in the industry. It addresses the basic need of consumers who crave for convenience. The driving force behind ride services like Uber and online shopping from Amazon also come home for health care technology stocks in 2020.

Imagine a scenario where a patient suffers from a severe illness. Telemedicine allows the patient to interact with the doctor virtually from home without needing an appointment. Telemedicine is taking off in a big way with which medicine and care have become a service. They provide the technology to enable remote care. An example would be a remote doctor and patient visit over the phone or internet via videoconferencing. This technology can also lift other existing healthcare technology services like medicine delivery, videoconferencing therapy options and many more. No doubt that health care technology companies will benefit from the trend.

There is still room for other technologies like wearables, robotic surgery and cutting-edge genomic technology. Wearables include the health tracking watches that continuously monitor patients health parameters. Meanwhile, related health care technology devices like WiFi-enabled scales and food-tracking apps are feeding directly into certain wearables. It is evident when patients with diabetes see better glucose-monitoring devices and insulin pumps in the same vein.

Intuitive Surgical leads the robotic surgery space, but also it faces rivalries from other health care technology companies. Several companies are already getting into this space, and still, there is a huge opportunity for health care technology companies working in spine, orthopedics and cancer. A group of companies are experimenting with computer vision and tiny instruments to drive into the lungs and detect cancer cells.

Gone are the days when it would have cost $2.7 billion for scientists to set out to sequence the human genome. Today, consumers can have a gene of their DNA read at a reduced cost. This would open up a new powerful tool in cancer diagnosis and research. Frequent genomic analyses can easily detect mutations associated with cancer can be diagnosed at an early stage through gene mutation in specific cells.

Therefore, 2020 will be the year for different technologies like wearables, robotic surgery and cutting-edge genomic technology other than telemedicine.

See the rest here:
Will 2020 be the Year of Telemedicine? - Medical Tech Outlook

As we look back on 2019, we at STAT find ourselves a little jealous.

There has been a lot of stellar health and science journalism this year, and below is a roundup of the stories we wish we had written.

And wed be remiss if we didnt admit the origins of this annual tradition Bloomberg Businessweek did it first, and head over there for more great reads.

advertisement

Story by Blake Ellis and Melanie Hicken, CNN InvestigatesPhotographs by Melissa Lyttle for CNN

Teaira Shorters appendix ruptured while she was in jail, serving time for minor offenses such as not wearing a seatbelt. She began to experience symptoms while in custody but her pleas for medical help were ignored for days which ultimately resulted in a life-threatening infection.

This investigation of an individual case sheds light on institutional problems in our foster care and prison system that put vulnerable populations at terrible risk. Melissa Lyttles photographs bring us directly into the life of this young woman trying to move forward. Contributed by Alissa Ambrose

By Ryan Cross, Chemical & Engineering News

When a young man in Wilsons clinical trial of a gene therapy died, in 1999, it basically shut down the field for a decade and made Wilson a pariah. C&ENs profile shows us not only how the tragedy made Wilson reassess his approach to science but also how it turned him into one of gene therapys most outspoken critics: Although he believes deeply that repairing genes can cure some of our most devastating diseases, Wilson is also outspoken about the risky approaches that some gene therapy studies are taking today. Contributed by Sharon Begley

By Ava Kofman, ProPublica

To read this piece is to see todays equivalent of a Dickensian debtors prison. Ava Kofman lays out, detail by infuriating detail, how digital technologies touted as progress are used to criminalize poverty. Supposedly, installing ankle monitors is a way to get people out of jail. But because companies charge the wearers daily fees they often cant keep up with and because their devices make it especially hard to land or hold down a job the practice ends up sweeping more people behind bars. Kofman masterfully weaves a tale of bodies controlled by private firms, of lives upended by machines that were supposed to set them free. As one young man puts it, I get in trouble for living. For being me. Contributed by Eric Boodman

By Martin Enserink, SciencePhotography by Tom Bouyer, Expedition 5300

Journalist Martin Enserink journeyed high into the Andes to write about research into the effects of chronic mountain sickness traveling, effectively, into thin air. He and photographer Tom Bouyer, whose striking photographs make this a visually arresting piece, traveled to La Rinconada, Peru, the worlds highest settlement and a gold mining town. If that activity draws to mind the wild, wild west, hang on to that thought. Enserink described La Riconada, which is north of Lake Titicaca, as Madmaxian, observing that the researchers typically retreat to their hotel rooms by 8 p.m. for safetys sake.

This forgotten part of the world is perilous for other reasons. People living in an environment with half the oxygen available to lungs at sea level can experience a host of physical ailments. These researchers would like to pave the way to therapies for chronic mountain sickness, but first need to better define what living and working at this altitude does to human bodies. Its a fascinating read. Contributed by Helen Branswell

By Ben Elgin, Bloomberg

At first, the foreboding ads flooding D.C.-area television sets didnt make much sense: Why would an advocacy group representing Americas sheriffs care whether states can import prescription drugs from Canada? Bloomberg investigated and found an answer: The pharmaceutical industry was funding the ads through an intermediary group, the Partnership for Safe Medicines. In a year already dominated by heavy-handed lobbying and advocacy surrounding prescription drug pricing, Bloomberg spotlighted one of the most brazen examples of indirect ad campaigns meant to gin up antagonism toward attempts at lowering drug prices. Contributed by Lev Facher

By Caroline Chen, ProPublica

Chens exhaustive investigation of the unregulated $2 billion stem cell industry showed how questionable marketing practices and misleading scientific claims are duping patients into paying thousands of dollars for injections of amniotic stem cells that dont work. Chens work prompted the Food and Drug Administration to ramp up its enforcement efforts. Contributed by Adam Feuerstein

By Rob Copeland and Bradley Hope, Wall Street Journal

This is the story of how Martin Shkreli, the cartoonishly disgraced biotech entrepreneur, continued to run his synonymous-with-greed drug company from federal prison. There are memorable cameos from inmates called Krispy and D-Block, fascinating details about a corporate power struggle, and an Austrian interior designer who made a regrettable investment. But the star of course is Shkreli, whose jailhouse persona lands somewhere between Jordan Belfort and Pepe the Frog. Despite lots of seemingly reasonable advice to just give it a rest, he remains convinced of his own gift for drug development and incapable of ever, for any reason, logging off. Contributed by Damian Garde

By Betsy McKay, Wall Street Journal

Our job as journalists is to notice the obvious, and this story does that brilliantly. For years, cardiovascular disease has been in decline, and it was expected to fall below cancer as the leading cause of death. In the words of Robert Anderson, chief of the CDCs mortality statistics branch, Its highly unlikely given the current trend that there will be a crossover anytime soon. In fact, the rates of heart attack and stroke mortality among people in their 40s and 50s are increasing. The story even takes a paragraph to embrace a celebrity angle, noting the deaths due to stroke of 90s icons John Singleton, who directed Boyz N the Hood and Luke Perry, who played bad boy Dylan McKay on Beverly Hills, 90210. But the story does more, explaining how heart disease patients have changed over 20 years. Once, they were men who smoked and had sky-high LDL levels. Now they are younger, more obese, and more likely to be women. The big question left behind is what society can do to put cardiovascular disease back in decline. Contributed by Matthew Herper

By Mike Hixenbaugh and Keri Blakinger, NBC News and the Houston Chronicle

In this series, reporters from NBC News and the Houston Chronicle reveal how incorrect determinations of various forms of child abuse have imprisoned relatives or separated them from children. These are incredibly complicated stories involving vulnerable children, and they show how difficult it can be to distinguish between accident and abuse. But the series reveals the ties among childrens hospitals and child welfare and law enforcement agencies and the authority conceded to doctors by the legal system. What comes across is how parents worries about a sick or injured child might just be the start of their nightmare. Contributed by Andrew Joseph

By Nellie Bowles, New York Times

Weve all heard the stories of the Silicon Valley pioneers who, after having gotten us all hopelessly addicted to our phones, now carefully limit their own childrens screen time. In this smart and provocative news analysis, reporter Nellie Bowles examines that phenomenon as well as its flip side. She tells the story of a health-tech startup called Care.Coach that employs workers in the Philippines and Latin America to operate digital avatars that live within tables and are being tested as companions for low-income seniors in the U.S. Its a telling example, she writes, of a growing class divide in how care, education, and all those services and interactions that make up our lives get delivered. As more screens appear in the lives of the poor, screens are disappearing from the lives of the rich, Bowles writes. Its an observation thats lingered with me and shaped how I, as a health-tech reporter, think about covering the growing number of health-care inventions that get delivered through screens. Contributed by Rebecca Robbins

By Anna Edney, Susan Berfield, and Evelyn Yu, Bloomberg Businessweek

Bloombergs Anna Edney has owned the generic drugs might kill you beat literally all year long, from three features over three days in January to a cover story in September to right up to the week she started her maternity leave. (Congratulations, Anna!) Pharmaceutical manufacturing and quality control is rarely the flashiest or the easiest thing to write about. But she and her colleagues showed real problems in the oversight of generic drug factories in the U.S. and overseas and illustrated the consequences lackluster oversight can have for real people. My hat is also tipped to Justin Metz, who did the simple and perfect cover photo illustration for one of Edneys stories in the Sept. 16 edition of Businessweek. Contributed by Kate Sheridan

By Sarah Zhang, The Atlantic

The Atlantics Sarah Zhang has done fantastic reporting this year on the cultural ramifications of consumer DNA testing, including this story about an Indiana fertility doctor named Donald Cline. Decades ago, Cline allegedly used his own sperm to impregnate his patients without telling them. DNA tests from 23andMe and Ancestry.com have turned up at least 50 children Cline fathered with his patients. This story told with sensitivity and gripping detail examines how those children found each other and how Clines actions have impacted their lives. Contributed by Megan Thielking

Excerpt from:
We wish we'd written that: STAT staffers share their favorite stories of 2019 - STAT

This is a rush transcript. Copy may not be in its final form.

NERMEEN SHAIKH: Why has there been so little progress in the war on cancer? According to the director of the National Institutes of Health, Dr. Francis Collins, quote, Americans are living longer, healthier lives. Life expectancy for a baby born in the U.S. has risen from 47 years in 1900 to more than 78 years today. Among the advances that have helped to make this possible are a 70% decline in the U.S. death rate from cardiovascular disease over the past 50 years, and a drop of more than 1% annually in the cancer death rate over the past couple of decades. A drop of just over 1%? For the trillions of dollars that have been poured into cancer research, just over 1%? Today, we spend the hour with a renowned oncologist who says we should be treating the disease differently.

AMY GOODMAN: In her new book, The First Cell: And the Human Costs of Pursuing Cancer to the Last, our guest for the hour, Dr. Azra Raza, notes we spend $150 billion each year treating cancer, yet a patient with cancer is as likely to die of it today with a few exceptions as one was 50 years ago. She argues experiments and the funding for eradicating cancer look at the disease when its in its later stages, when the cancer has grown and spread. Instead, she says, the focus should be on the very first stages, the first cell, as her book is titled. She says this type of treatment would be more effective, cheaper and less toxic.

NERMEEN SHAIKH: Dr. Raza criticizes what she calls the, quote, protocol of surgery, chemotherapy and radiation the slash-poison-burn approach to treating cancer, which she says has remained largely unchanged for decades. She calls for a transformation in the orientation of cancer research, writing, quote, Little has happened in the past fifty years, and little will happen in another fifty if we insist on the same old, same old.The only way to deal with the cancer problem is to shift our focus away from exclusively developing treatments for end-stage disease and concentrate on diagnosing cancer at its inception and developing the science to prevent its further expansion. From chasing after the last cell to identifying the footprints of the first, Dr. Raza writes.

AMY GOODMAN: Well, for more, Dr. Azra Raza joins us to speak in her own words. Oncologist and professor of medicine at Columbia University, shes also the director of the MDS Center. MDS is myelodysplastic syndromes, a form of bone marrow cancer. In her book, she notes, again, that we spend $150 billion each year treating cancer, yet a patient with cancer is as likely to die of it today than one 50 years ago it is an astounding fact with a few exceptions.

Dr. Azra Raza, welcome back to Democracy Now! Its great to have you with us. How can this be? How can it be, the lack of progress that has been made in this last half-century?

DR. AZRA RAZA: Thank you for having me again, Amy. Im delighted to be here.

Since 1903, it has been well appreciated, actually, that its not cancer that kills; its the delay in treatment that kills. So, forever we have been making attempts to try and diagnose this disease early. In the last three decades, we have seen a 26% decline in cancer mortality, which is about 1% a year, as you pointed out. But thats not happened because we have developed some grand, new treatment strategy. It has happened because of two main things. One is the anti-smoking campaign, so the incidence started going down. And second is because we started using screening measures to diagnose cancers earlier and earlier.

This approach of preventive medicine, where you catch the disease early and intercept early, is what caused the drop in cardiovascular disease by 70%, because, there, the cardiologists were smarter than oncologists. They realized that if they allow a myocardial infarction, or a heart attack, to damage the heart muscle, then the only treatment would be a heart transplant, which is so draconian and so terrible. They started to diagnose not only earlier and earlier, but try and prevent the appearance by using anti-cholesterol drugs, for example. Thats a very clear case of early detection, but then even prevention of the disease. And 70% decline in mortality. Why arent we doing the same in cancer?

NERMEEN SHAIKH: So what is the answer to that?

DR. AZRA RAZA: Well, the answer is that we have been trying to do it. And the screening measures that were put in place, like mammography, colonoscopy, PSA testing, Pap smears, theyre the ones that caused the decline by 26% mainly, in addition to anti-smoking campaigns. But those measures were put in 50 years ago. Imagine, in this day and age of technology, we are still putting a tube into someones gut and looking to find cancer. That is primitive. Thats paleolithic for today.

AMY GOODMAN: And the alternative is?

DR. AZRA RAZA: The alternative is that we have milked these technologies as much as we could . They have yielded the 26% decline in mortality. Theyre not going anywhere else. We need to invest in developing technology based on current imaging, scanning devices, detection of biomarkers, for example, from blood, sweat, tears, saliva, urine, stool samples, and find the earliest footprint of cancer and see how we can intervene. And this is a strategy that is not limited to just cancer, Amy. This is a strategy that is going to apply to every single chronic disease in the coming years.

AMY GOODMAN: So, what has prevented that from happening?

DR. AZRA RAZA: I wish there was a very neat kind of answer about this, but its something like this. You take a frog and put it in cold water and start heating it slowly; nothing is going to happen. On the other hand, you throw a frog into boiling water, it will jump out. But if you heat it slowly, the frog dies without jumping out, because it slowly gets used to it. This is an apocryphal story, by the way; scientifically, its incorrect. Just a warning. As a purist, I have to add that. But the analogy is true, that things have happened so slowly that we keep getting desensitized to the next step. One thing is that there is so much hyperbole around cancer treatment. If a few months of survival are added by a drug, it is welcomed as a game changer. Let me

AMY GOODMAN: At the end of life.

DR. AZRA RAZA: Yes, exactly. Let me give you just a few statistics. I want to be very clear that using the slash-poison-burn approach, we are curing 68% of cancers that are diagnosed today. We are curing them. Thirty-two percent that present with advanced disease, their outcome is the same exact outcome that it was 50 years ago. The 68% we are curing, why are we still using these Stone Age treatments? You know how terrible it is to get chemotherapy and radiation therapy.

AMY GOODMAN: Explain how it works.

NERMEEN SHAIKH: Explain what yeah, yeah. What happens?

DR. AZRA RAZA: The first rule of medicine is first, do no harm. In fact, when a patient is diagnosed with cancer, its a silent killer. Thats the problem. It can reach stage IV disease without producing symptoms. So, somebody comes to us I recently saw a 42-year-old young man who has just finished a game of tennis and come to see me, and suddenly, because he was exhausted and feeling so tired, and now I diagnosing him acute myeloid leukemia. I look at this toned and tanned young man, and the first thought that comes to me is about what we are going to do to him with the chemotherapy we are going to give him.

It is unconscionable that in 2019 I am still going to give this young man the same combination of two drugs that we popularly known as 7+3, that I was giving in 1977, when I arrived in this country. I feel ashamed of myself, having to repeat the same side effects, that you are going to lose all your hair, throw your guts out, and your counts are going to tank. Your blood counts will go down to essentially zero for weeks on end, where you are going to be susceptible to all kinds of terrible infections. You will be in the hospital suffering with shivering night sweats and fevers and all kinds of aches and pains and constitutional symptoms. And then there is a chance that a percentage of those patients will improve. So, this is what we do with just chemotherapy alone.

AMY GOODMAN: Were going to break and then come back to this discussion and also hear about your personal story with your own husband, also a renowned cancer doctor, who died of the very disease that he was studying, and hear the stories of your patients. Were talking to the renowned cancer doctor, the oncologist, the professor of medicine at Columbia University, Dr. Azra Raza. She has a new book. It is called The First Cell: And the Human Costs of Pursuing Cancer to the Last. Stay with us.

[break]

AMY GOODMAN: Nocturnes, Op. 27, No. 2, in D-flat major, _lento sostenuto _, performed by Abbey Simon. Abbey Simon passed away December 18th at the age of 99. This is Democracy Now!, democracynow.org, The War and Peace Report. Im Amy Goodman, with Nermeen Shaikh, as we spend the hour with Dr. Azra Raza, a renowned oncologist, professor of medicine at Columbia University, where shes also the director of the MDS Center a form of bone marrow cancer her new book, just out, titled The First Cell: And the Human Costs of Pursuing Cancer to the Last.

NERMEEN SHAIKH: So, Azra Apa, Dr. Raza, we were talking earlier, in the first part of the program, about the slash-poison-burn approach to treating cancer, which youve been very critical of, which involves surgery, chemotherapy and radiation. You say that this has been responsible for curing 68% of cancers. So a couple of questions: Would it have been possible, even though this is counterfactual, to cure such a high number of cancers using alternative methods? And, two, what kinds of advances have been made in how chemotherapy is administered and how the effects of that, of changes in the way that its administered, have had on patients?

DR. AZRA RAZA: Both very good questions. So, the first question you asked is what could have been really done. And what have we been aiming at doing? So, sure, we started by using these blunt approaches. Its literally like taking a baseball bat to hit a dog to get rid of its fleas. Thats how bad this kind of treatment is. But we had to do it because we had no alternatives. In the meantime, we invested billions of dollars in trying to study the biology of cancer, hoping that we will identify some intricate signaling pathway, some genetic defect, that is going to allow us to target it specifically. And this did happen in two diseases. In chronic myeloid leukemia, we developed a targeted therapy, because theres one gene had gone wrong, and one magic bullet could target it and cure the disease. Now we

AMY GOODMAN: And again, just to note, youre one of the worlds leading authorities on AML, this kind of cancer.

DR. AZRA RAZA: On this, Im talking about chronic myeloid leukemia. But yes, youre absolutely right: I am an expert in myeloid diseases. And CML, chronic myeloid leukemia, is something Ive treated for decades.

Now, this was a huge advancement that happened in the early 2000s, that we could now use a targeted therapy which is not chemotherapy, which only goes and attacks the abnormal cell which is expressing this protein. While it helped patients, its also put the field behind by 20, 30 years. Why? Because we felt that this now establishes a paradigm. Every cancer will be caused by one genetic defect, for which we just have to develop one drug. So, one gene, one targeted therapy. Everybody and their grandmother has been trying to find the one gene for pancreatic cancer, the one gene for acute myeloid leukemia. It turns out that, unfortunately, for all other cancers, most of them, really, there are too many genes that are mutated simultaneously. And so the targeted therapies weve developed, even for those multiple proteins or one protein that is dominant, it turns out it works for a little bit.

So, let me give you some statistics again. Ninety-five percent 95% of the new drugs that we are bringing, the experimental drugs we bring to the bedside, 95% of them fail. And to bring one of those drugs to the bedside is a billion dollars almost. So imagine how much we are losing. Five percent that succeed should have failed, in my opinion. Why? Because theyre only prolonging survival by a few months. So, for example, theres a drug that extends the life of a pancreatic cancer patient by 12 days, at the cost of $26,000 a year and not every pancreatic cancer patient, just a fraction. So think of the financial toxicity we are causing to these patients now. For very little prolongation and survival, we are financially ruining 42% of cancer patients diagnosed, newly diagnosed with cancer today, by year two. They lose every penny of their life savings.

AMY GOODMAN: Speaking of which, before we go on to the incredible stories you describe in The First Cell, your thoughts on Medicare for All? I have spent a lot of time accompanying family and friends, for example, at Sloan Kettering, who are dealing with cancer. The astounding devastation of peoples, aside from lives, financial destruction. Medicare for All, what would that mean for cancer patients?

DR. AZRA RAZA: Amy, while Im not an expert on these issues, I have common sense. And one thing I can say is that the current situation is completely untenable. We are on the verge of a collapse with the healthcare system. We cant continue it the way it is going. And, to me, the only solution seems to be but again, its not speaking as an expert is to have Medicare available for everybody. I think thats the only compassionate and humane solution.

NERMEEN SHAIKH: Well, Azra Apa, I want to ask you about another incident that you mention in the book, before going on to the longer case histories of patients in their own words as well as in the words of their family members. I mean, the cost of cancer treatment, as you say, in the U.S. is exorbitant, and many families have been driven to financial ruin. But what about in places where cancer treatment is so prohibitive that it entirely deprives patients of access? You talk about arriving in Karachi and meeting in Karachi, Pakistan, which is where youre from and talking to Zaineb, a cancer patient about whom you write, quote, How does one go in and talk to a thirty-five-year-old woman for whom dying from leukemia is only her second-biggest problem? Could you talk about that, access to cancer treatment and who the people are who are entirely deprived of any treatment at all?

DR. AZRA RAZA: This is a subject which is very close to my heart, Nermeen, because, obviously, I am from that part of the world. The entire world looks to America for leadership. What kind of leadership are we providing? A leadership where we are developing drugs or cellular therapies now that will cost over a million dollars per patient, for helping very few patients. These are rarified cases for whom this kind of treatment will work. As you said, what about the 20 million new cancer patients being diagnosed universally all around the world? We just dont have a compassionate solution for them. Why arent we thinking not just of those even in America, in the remote areas and many, many places where healthcare is becoming harder and harder to access just because hospitals are closing down from financial ruin themselves? Why arent we thinking of them? Why arent we thinking beyond American borders, for humanity as a whole?

And when you think about that solution, I mean, you dont have to be a genius. No, no, look, the only thing that works in cancer if you have someone who gets diagnosed with cancer, the first thing youll say is, Was it advanced, or was it caught early? No, early, so theres hope. We know that early detection helps, right? Why are we investing money in chasing down the last cell, in which with drugs which have a 95% failure rate today? Because the pre-clinical testing platforms we are using are so artificial, and thats why we are bringing up drugs that are not going to be successful.

Instead of doing that, why arent we simply improving on the techniques we know work? What worked? Early detection. How do you do early detection? Well, mammography, colonoscopy, Pap smear, etc., has been reached to their maximal limits. Lets develop the new technology so that from one drop of blood, you can put it on a little chip, which can be read by a cellphone, which costs $180 for 12 cancers to be diagnosed early. This is something that was just announced by a Japanese company. So these are things not that are a pie in the sky. These are things that are happening now. Except how fast will it happen to reach the rest of the world? It depends on the amount of resources we invest.

AMY GOODMAN: Were talking to Dr. Azra Raza. Her book is called The First Cell. She is a leading oncologist in the world. She is a Pakistani American, a Muslim, a woman. You talk about your own story in the book, the story of your husband, also a leading oncologist. Dr. Harvey Preisler died of lymphoma in 2002. You write, Cancer is what I had been treating for two decades, yet until I shared a bed with a cancer patient, I had no idea how unbearably painful a disease could be. Lets first turn to your daughter, to Sheherzad Raza Preisler, speaking at the memorial service for her father, your husband, about his cancer diagnosis and the effect his condition had on the family. The 15th Harvey Preisler Memorial Symposium was held in New York in 2017.

SHEHERZAD RAZA PREISLER: What a cruel twist of irony it was that as he was directing the Rush University Cancer Center in Chicago, he was cut down in the prime of his life by the very disease he had dedicated his life to cure. I was only 3 when he was diagnosed and 8 when he died. My parents took great pains to never mention the C-word in my earshot, and yet most of my memories of Dad are related, at least in part, to the presence of this nameless other in our lives. And even though I was too young to know what was going on at any tangible level, I had some sort of instinctual knowledge that something was terribly wrong. I could sense my mother struggle as she was navigating through stages of optimism, pain, dread, despondency and, eventually, hopelessness, as my dad underwent a seemingly endless stream of experimental treatments. These stages are what most cancer patients and their caregivers and families experience.

AMY GOODMAN: That was Sheherzad Raza Preisler, the daughter of our guest today, Dr. Azra Raza, oncologist, professor of medicine at Columbia University, talking about her dad, who died of one of the cancers that he specialized in. He was head, Dr. Harvey Preisler, of the Rush Cancer Institute in Chicago. Tell us, as you begin your book, what happened to your husband, what happened to Harvey.

DR. AZRA RAZA: First of all, Amy, when I started writing this book, I had no intention of putting Harvey into the book. I was writing about my other patients. But when I wrote about them in such detail and with such painful granularity, I felt it would be dishonest if I held back my own story. And so, at that point, I decided to add. And once I decided that, this story became like a red line running throughout the whole book, because then I couldnt escape, at every level, where Harvey came in.

Ill give you just one example. I mean, he was the head of the cancer center. He gets the very disease hes trying to cure. And now he dies, after a very, very exceedingly painful almost five-years battle. Sheherzad was 8 years old when he died. And a couple of weeks after he died, she developed a terrible cold and flu and was pretty sick for a few days and then started getting better. And one morning I was sitting in the living room reading, and she suddenly comes out crying inconsolably. I was sure that shes had a relapse and is much worse. But when I was able to calm her down, this is what she said, Amy. She said, Actually, I feel perfectly fine now. But I know what it feels like to be so sick and how good it is to get better. And my dad never got better. Which brought on a second fit of crying. So, an 8-year-old, at a visceral level, is able to experience the kind of anguish that cancer patients suffer.

Being a cancer widow, did it make me into a different kind of doctor? No. But my perceptions changed entirely. You know, Marcel Proust has said that real voyage does not lie in finding new landscapes, but in having new eyes. And so it became a voyage of discovery for me, in having new eyes.

AMY GOODMAN: And that issue of prevention, of catching early, what happened in your husbands case? Who I mean, he was head of a major cancer institute.

DR. AZRA RAZA: The same thing that happens to all other cancer patients: He was diagnosed way too late. And actually, the lymphoma didnt kill him. The treatment we gave killed him. The chemotherapy we gave destroyed his immune system, so that he died eventually of sepsis. He didnt die of the lymphoma.

Theres a family friend of ours who once told my younger brother he said, Abbas, if the sun rose suddenly from the west one day, the entire world will stop and stare at it. But there are some people who watch the sun rise from the east every day, and they wonder why. And he said, Those are the only kinds of people who can make a difference in the world.

And thats the kind of person Harvey was. He was an extremely thoughtful person with a great curiosity about life in general, but specifically scientific issues. Yet what I learned from taking care of him and sharing a bed with him as a cancer patient was a deeply humbling acceptance of his condition. Basically, his attitude was I am a man, and a man is responsible for himself, even though I know that this is not going anywhere.

AMY GOODMAN: You write at the beginning of your book, in your introduction, From Last to First, talking about that idea of the first cell, I have learned new things about what I thought I already knew: like the difference between illness and disease; between what it means to cure and to heal; between what it means to feel no pain and to feel well. Can you elaborate on this?

DR. AZRA RAZA: I mean, really, the whole concept of this is can be expressed better in poetry. So, if you dont mind, I will recite a short piece by Emily Dickinson:

I measure every Grief I meetWith analytic eyes I wonder if It feels like Mine Or has an Different size.

I wonder if They bore it long Or did it just begin I cannot find the Date of Mine Its been so long a pain

I wonder if it hurts to live And if They have to try And whether could They choose between They would not rather die.

NERMEEN SHAIKH: Well, I want to ask about another patient who you profile in the book, who is in fact subjected to a particularly brutal form of this slash, burn and poison. And thats Andrew Slootsky, who died in 2017 at the age of only 23. The book includes a testimonial from his mother, Alena, who criticizes the attitude of the oncologists who treated him, but says she would have wanted Andrew to undergo any treatment that might have extended his life. So, could you talk about Andrew was also one of the best friends of your daughter, Sheher. Could you talk about the treatment that he was subjected to? What happened? And also your decision one of the most remarkable things about this book is not just, of course, your expertise in cancer and cancer treatment, but also these stories that you weave into the narrative, of patients youve treated, of patients families who have witnessed their family members being treated in this way and ultimately dying. And this is Alena, Andrews mother, saying that she would have Andrew go through all of this treatment, even if it meant the slightest possibility of extending his life.

DR. AZRA RAZA: Yes. Nermeen, actually, Andrew is the impetus for me to write this book. In 2016, when he gets diagnosed with cancer, he has weakness in his arm. He goes to the emergency room. They do an MRI. They find an inoperable brain tumor, nine centimeters long. They couldnt remove it. From the day one, every oncologist that treated Andrew knew that his chance of survival is 0.00, beyond what is to be expected. No matter what we give him, he was going to die. We all knew it.

This boy, when he opened his eyes, coming out of anesthesia, he turned to his mother, and he said, Mom, dont worry. Just call Azra. Shes on the cutting edge. She will find the best treatment and cure for me. And Alena called me. This young man, whos been in and out of my house since hes 15 years old, because hes best friends with my daughter. I felt so ashamed of myself that there is nothing I can offer this poor boy, and the fact that we are failing the Andrews and the Zainebs and the Harveys and the Omars of this world so spectacularly, and instead of feeling embarrassed, we go around pumping our chest, claiming that we are curing 68% patients. Sixty-eight percent of what? again and again I ask.

And what we do to Andrew in the next 16 months, even though we knew his chance of survival is zero, is we give him chemotherapy, radiation therapy, surgery after surgery, more chemo, more radiation, more immune therapy. And he suffered the side effects of every one of them, without benefiting from anything.

But then, the converse is also a problem. Lets say we didnt treat him and let the brain tumor take over. That death from advanced cancer is just horrendous. So, basically, the treatment, what are the choices we offered Andrew at this point? Either you die of your cancer or die of the treatment, but you are going to die. And the question I ask myself is Why? Why was Andrew diagnosed when his cancer was nine centimeters long? We know that cancer is a silent killer. We know no age is immune to getting cancer. At 22, this boy got cancer.

AMY GOODMAN: And specifically in his case, how could it have been detected earlier? Talk about the tests that you think need to be developed, and are actually already there but somehow missed him?

DR. AZRA RAZA: So, Amy, I am calling for a complete paradigm shift. What Im saying is that even the screening measures that we are using annually, for example, doing a mammogram is too late for some people. What we need to do is consider the human body as a machine and continuously learn to monitor it for the detection of diseases, whether its Alzheimers or cancer or diabetes. We need to catch all of these diseases early and try to nip them in the bud. This is what Im asking for. So, what has to be done for that? Children get cancer. Not that many, but certainly they do. And again, we treat them with these draconian measures, and they end up with developmental issues, fertility issues, all kinds of problems. So, what Im asking for is we need to develop those markers that can identify cancer at its inception. It is doable. It is possible.

A lot of research is going on, in this country and elsewhere also, to find footprints of cancer, for example Ill give you a couple of examples. When cancer starts, it divides fast its cells divide faster than normal cells, which means it needs more nutrition, so it starts making new blood vessels. As soon as that happens, the area becomes hot because of new blood going into that one area. This hot area can be detected. People are developing bed sheets and mattresses where you can go to sleep and you are overnight youre being scanned for hot areas. Lets say a hot area is detected in my pancreas one day. It doesnt mean the next morning I should have an open abdominal surgery and eviscerated and removal of all my no, it means that now theres something abnormal which needs to be monitored. I am now considered someone at high risk, so I should be monitored for other biomarkers. These cells which are developing in my pancreas will be shedding their proteins into the bloodstream. If theyre not shedding, you know one thing we can do? We can yell at them. How do you yell at them? You use sound waves, literally, ultrasound, to hit them. And they start shivering, and they start shedding their proteins into the blood. And we get the blood and detect the biomarker.

AMY GOODMAN: Is there a cancer-industrial complex thats preventing this kind of research and development of the preventive and the early-detection approaches to cancer?

DR. AZRA RAZA: Absolutely not, Amy. In fact, my contention and my conceit is that if heres an industry that is investing in an enterprise that has a 95% chance of failure, but they keep investing billions of dollars, because if one of their drugs makes it, if it improves survival by 10 seconds more than two months

AMY GOODMAN: So youre saying there is a cancer-industrial complex that is

DR. AZRA RAZA: But theyre not preventing it.

AMY GOODMAN: Right.

DR. AZRA RAZA: They just dont know whats a better thing to do. So, what Im saying is, we just set a new goal, and we financially incentivize the goal, then all these people will turn around and come to the first cell instead of going after the last cell.

AMY GOODMAN: What about Vice President Bidens moonshot challenge around curing cancer?

DR. AZRA RAZA: I was one of the fortunate people to meet Vice President Biden in his across his dining room table for the cancer moonshot and had a very wonderful discussion with Vice President Biden. His heart is in the right place. And there is a certain fraction of that billion dollars, the money that he has allocated for cancer research, is definitely towards prevention and early detection of cancer. But its not enough. That kind of vision is what we really need. But we need Im not saying all current research should stop. Nobody should misquote or mishear me. I am saying we have correct patients. Of course we have to worry about them, and we have to keep developing better treatments and better understanding of biology. But I think at least half of the resources, and all the resources going into these failing clinical trials, these billions and billions of dollars, can be redirected for future patients to try and detect the disease early a solution which will be applicable universally.

AMY GOODMAN: We have to break. Then were coming back to our guest, Dr. Azra Raza, oncologist, professor of medicine at Columbia University, where she directs the MDS Center, a form of bone marrow cancer. Her new book is out. Its called The First Cell: And the Human Costs of Pursuing Cancer to the Last. Stay with us.

[break]

AMY GOODMAN: New York by St. Vincent. The photos in the video were compiled by Kat Slootsky for her brother Andrew, one of the patients profiled in Dr. Azra Razas book, The First Cell: And the Human Costs of Pursuing Cancer to the Last. He died when he was 23 years old, of a particularly aggressive form of brain cancer. Im Amy Goodman, with Nermeen Shaikh. Were spending the hour with Dr. Azra Raza, the renowned oncologist, professor of medicine at Columbia University. Nermeen?

NERMEEN SHAIKH: So, Azra Apa, I want to ask you about one of the criticisms that your book has come under. In The New York Times, Dr. Henry Marsh praises the book but says youre too optimistic about the solutions you propose. Marsh writes, quote, Her diagnosis of the ills from which cancer treatment suffers strikes me as accurate, but her solutions seem infused with the same unrealistic optimism she identifies as the cause of so much suffering. This is Dr. Henry Marsh writing in The New York Times. Are you guilty of too much optimism?

DR. AZRA RAZA: No. Thats the short answer. But, Nermeen, you know, I started my career in oncology basically in 1977. I was 24 years old, fresh out of med school. I had come here. I started working at Roswell Park Cancer Institute, because I was going to cure cancer very quickly, I thought. And within seven, eight years, it was very clear to me, the disease that I had invested all my energies in, acute myeloid leukemia, that in my lifetime this disease will not be cured. It is so complicated.

So, at that point, I turned my attention toward studying an earlier form of the disease, because many of my patients who came with acute leukemia gave a history of having had some low blood counts and being anemic for a few months before it developed to leukemia. So I said to myself, Why not catch this disease earlier, the pre-leukemia phase, and intercept then and not let it become this end-stage monstrosity?

So I started collecting this is where being an immigrant helped me, Amy, because had I gone to school in this country, if I had started to study acute leukemia, my next step would have been to make a mouse model of this disease, which are very artificial and which just for drug development, at least. Theyre very good models for studying biology, but not for drug development. But because I was an immigrant, I simply started saying, Oh, I have to study cancer, so let me save these cells. And I started banking cells on my patients. Today I have a tissue repository which has 60,000 samples from thousands of cancer patients, followed longitudinally, well annotated, with all their clinical and pathologic data in the computerized forms. And this is a very precious resource, one of a kind. Not one single cell comes from another physician. I still do the bone marrows with my own hands, which Im going to do in the next hour, when I get to my clinic.

But the idea I had was that earlier detection will help. That was many years ago. Wheres my solution? So, the question you ask me and the criticism that Dr. Marsh is giving can be applied to me, yes, that 35 years ago I felt that detecting the disease early, pre-leukemia, would help me. It hasnt helped me, because pre-leukemia itself is a very malignant disease and can kill.

So then I realized that by using these samples of acute leukemia, working my way back to pre-leukemia, I can then ask the question: Why did some people get pre-leukemia, to begin with? Why did they get MDS? And once we can discover that, by using these tissue samples and the latest technology of proteomics, genomics, transcriptomics, metabolomics, panomics, we will find the same kind of thing you have, say, for breast cancer, the BRCA gene. Can we find something thats making people susceptible because of their inherited DNA?

AMY GOODMAN: What about targeted immunotherapy? People think that it has gone so far to help cancer patients. What is it? And what do you see are the prospects for it?

DR. AZRA RAZA: The answer to that is, first, you have to understand what is the cell therapy. So, there are many, many different forms of immune therapies, fourteen, fifteen different kinds. But the ones that are receiving all the attention are basically two types. Checkpoint inhibitors are drugs which cancer cells so, every cell expresses proteins that either say, Eat me, or Dont eat me. Cancer cells learn to express only proteins that say, Dont eat me. Dont eat me. Dont. So, this is how they deflect the immune system.

AMY GOODMAN: We have less than a minute.

DR. AZRA RAZA: And so, we tried drugs to do that. We succeeded. The response doesnt last. The other form of therapy is cell therapies that we use. Immune therapy using cells T cells, for example cannot distinguish between a normal cell and a cancer cell in the organ. All we can do is we can activate these T cells and say, Go kill the whole organ, and cancer will die with it. So the only cells we have succeeded in killing, or the only organ we have succeeded in killing, so far, is B cells, which are a kind of lymphoid cells in the body.

AMY GOODMAN: Ten seconds.

DR. AZRA RAZA: We kill them, and then we replace B cell function by giving immunoglobulins for the rest of their time. We cant do that for the liver. We cant kill the liver and expect to replace it. Thats why immune therapy using cells is not going to work.

AMY GOODMAN: Well, were going to have to leave it there, but people can pick up the book and take it from there. Dr. Azra Raza, oncologist, professor of medicine at Columbia University, heads up the MDS Center, a form of bone marrow cancer. Her new book, The First Cell: And the Human Costs of Pursuing Cancer to the Last. Im Amy Goodman, with Nermeen Shaikh.

Go here to read the rest:
The First Cell: Dr. Azra Raza on Why the Slash-Poison-Burn Approach to Cancer Has Failed - Democracy Now!