Archive for the ‘Gene Therapy Doctor’ Category

Compared with doctors choice of chemotherapy, Enhertu (chemical name: fam-trastuzumab-deruxtecan-nxki) improved both progression-free survival and overall survival in people diagnosed with previously treated metastatic HER2-low breast cancer, according to a study.

The research was presented on June 5, 2022, at the American Society of Clinical Oncology (ASCO) Annual Meeting and published simultaneously in The New England Journal of Medicine. Read the abstract of Trastuzumab Deruxtecan in Previously Treated HER2-Low Advanced Breast Cancer.

Progression-free survival is how long a person lives without the cancer growing. Overall survival is how long a person lives, whether or not the cancer grows.

Metastatic breast cancer is breast cancer that has spread to parts of the body away from the breast, such as the bones, liver, or brain.

Some breast cancer cells make, or overexpress, too many copies of the HER2 gene. The HER2 gene makes a protein known as a HER2 receptor. HER2 receptors are like ears, or antennae, on the surface of cells. These HER2 receptors receive signals that stimulate the cell to grow and multiply. But breast cancer cells with too many HER2 receptors can pick up too many growth signals and start growing and multiplying too much and too fast. Breast cancer cells that overexpress the HER2 gene are called HER2-positive.

Doctors use several tests to find out if a breast cancer is HER2-positive. Two of the most common are:

IHC (ImmunoHistoChemistry): The IHC test uses a chemical dye to stain the HER2 proteins. The IHC measures the amount of HER2 proteins on the surface of cells in a breast cancer tissue sample and gives it a score of 0 to 3+. If the score is 0 to 1+, its considered HER2-negative. If the score is 2+, its considered borderline. A score of 3+ is considered HER2-positive.

FISH (Fluorescence In Situ Hybridization): The FISH test uses special labels that attach to the HER2 proteins. The special labels have chemicals added to them so they change color and glow in the dark when they attach to the HER2 proteins. With the FISH test, you get a score of either positive or negative (some hospitals call a negative test result zero).

About 15% to 20% of breast cancers are HER2-positive. Still, research shows that more than 60% of breast cancers considered HER2-negative have some HER2 proteins on the surface of its cells. There just arent enough HER2 proteins for the cancer to be considered HER2-positive. Doctors now call these cancers HER2-low.

There are medicines called targeted therapies that specifically target the HER2 receptors on HER2-positive breast cancer cells. Herceptin (chemical name: trastuzumab) was the first anti-HER2 medicine developed. Still, these anti-HER2 medicines have not been effective against HER2-low breast cancers.

HER2-low breast cancer is commonly treated as if it were HER2-negative breast cancer, almost always with chemotherapy.

Enhertu is approved by the U.S. Food and Drug Administration (FDA) to treat unresectable or metastatic HER2-positive breast cancer in people who have previously received an anti-HER2 medicine:

for metastatic disease

before or after surgery for early-stage disease that came back (recurred) within six months of completing treatment

Unresectable means the cancer cant be removed with surgery.

Enhertu is a targeted therapy made up of three parts:

fam-trastuzumab: an anti-HER2 medicine that has the same basic structure as Herceptin

a topoisomerase I inhibitor chemotherapy called DXd: topoisomerase I inhibitors work by interfering with a cancer cells ability to replicate

a compound that links the fam-trastuzumab molecule to the topoisomerase I inhibitor chemotherapy molecule

Doctors call Enhertu an antibody-drug conjugate targeted therapy. The combination of the topoisomerase I inhibitor and the linking compound is called deruxtecan. The linking compound attaches (conjugates) the fam-trastuzumab to the topoisomerase I inhibitor chemotherapy.

Enhertu was designed to deliver the topoisomerase I inhibitor to cancer cells in a targeted way by attaching the topoisomerase I inhibitor to the fam-trastuzumab. The fam-trastuzumab part of Enhertu attaches to the HER2 protein, stopping it from receiving growth signals and also carries the topoisomerase I inhibitor to the cancer.

Because Enhertu contains both an anti-HER2 medicine and a chemotherapy medicine, the researchers for this study thought it might effectively treat HER2-low breast cancers.

Called DESTINY-Breast04, the study included 557 people 555 women and two men diagnosed with metastatic HER2-low breast cancer. The people joined the study between December 2018 and December 2021. All the people in the study had already received one or two lines of chemotherapy for metastatic disease.

In this study, the researchers defined breast cancer as HER2-low if it got an IHC score of 1+ or an IHC score of 2+ and a negative FISH test.

About 89% of the cancers in the study were hormone receptor-positive and about 11% were hormone receptor-negative.

About 45% of the people in the study lived in Europe or Israel and almost half were white.

The researchers randomly assigned the people to one of two treatment groups:

373 people received Enhertu; 331 (88.7%) of these people had hormone receptor-positive disease

184 people received their doctors choice of chemotherapy; 163 (88.6%) of these people had hormone receptor-positive disease

Among people who received their doctors choice of chemotherapy medicines:

51.1% received Halaven (chemical name: eribulin)

20.1% received Xeloda (chemical name: capecitabine)

10.3% received Abraxane (chemical name: albumin-bound or nab-paclitaxel)

10.3% received Gemzar (chemical name: gemcitabine)

8.2% received Taxol (chemical name: paclitaxel)

About 63% of people who received Enhertu and 61% of people who received their doctors choice of chemotherapy had previously received three or more types of treatment for metastatic disease.

The researchers followed about half the people for more than 18.4 months and half for less time.

As of Jan. 11, 2022, progression-free survival time was:

9.9 months for people who received Enhertu

5.1 months for people who received their doctors choice of chemotherapy

Overall survival time was:

23.4 months for people who received Enhertu

16.8 months for people who received their doctors choice of chemotherapy

The researchers also looked at specific subgroups of people in the study.

For people diagnosed with hormone receptor-positive disease:

progression-free survival was 10.1 months for people who received Enhertu and 5.4 months for people who received their doctors choice of chemotherapy

overall survival was 23.9 months for people who received Enhertu and 17.5 months for people who received their doctors choice of chemotherapy

For people diagnosed with hormone receptor-negative disease:

progression-free survival was 8.5 months for people who received Enhertu and 2.9 months for people who received their doctors choice of chemotherapy

overall survival was 18.2 months for people who received Enhertu and 8.3 months for people who received their doctors choice of chemotherapy

The researchers analyzed side effects in 371 people who received Enhertu and 172 people who received their doctors choice of chemotherapy.

More than 99% of the people who received Enhertu and more than 98% of people who received their doctors choice of chemotherapy had at least one side effect. About a quarter of the people in each treatment group had a serious side effect.

About 16% of people who received Enhertu and about 8% of people who received their doctors choice of chemotherapy stopped the medicine because of side effects.

The most common side effects of any grade among people receiving Enhertu were:

nausea, experienced by 73% of the people

fatigue, experienced by 47.7% of the people

hair loss, experienced by 37.7% of the people

The most common grade 3 or higher side effects among people receiving Enhertu were:

low white blood cell count, experienced by 13.7% of the people

low red blood cell count, experienced by 8.1% of the people

fatigue, experienced by 7.5% of the people

Interstitial lung disease, a general term for disorders that cause inflammation and scarring in the lungs, is a less common but serious side effect of Enhertu. Overall, 45 people who received Enhertu and one person who received the doctors choice of chemotherapy developed interstitial lung disease.

In the person who received the doctors choice of chemotherapy, the interstitial lung disease was grade 1.

Among the people who received Enhertu:

13 people had grade 1 interstitial lung disease

24 people had grade 2 interstitial lung disease

5 people had grade 3 interstitial lung disease

3 people had grade 5 interstitial lung disease

Overall, 14 people who received Enhertu and five people who received their doctors choice of chemotherapy died from drug-related causes during the study.

With these results, we have expanded the benefits of HER2 targeted therapy to a new population of breast cancer patients, said lead author Shanu Modi, MD, breast medical oncologist at Memorial Sloan Kettering Cancer Center when presenting the research. And [we] have established trastuzumab deruxtecan as the new standard of care for patients with HER2-low metastatic breast cancer. These findings have the potential to impact survival for approximately 50% of all patients diagnosed with metastatic breast cancer today.

If youve been diagnosed with metastatic breast cancer, the results of this study are extremely exciting and promising.

The attendees at the 2022 ASCO Annual Meeting were also excited. At the end of her presentation, Dr. Modi received a 40-second standing ovation.

The results of DESTINY-Breast04 are practice-changing, Dr. Modi said in an interview after her presentation. I think the strong efficacy of trastuzumab deruxtecan in this HER2-low patient population supports the need to now reclassify HER2-low as a new therapeutically targetable category of metastatic breast cancer.

Based on the results of the DESTINY-Breast04 study, you may want to talk to your doctor about the HER2 test results in your pathology report. If the score was 1+ on an IHC test or the score was 2+ on an IHC test plus a negative FISH test, Enhertu may be an option for you.

Learn more about Enhertu.

Written by: Jamie DePolo, senior editor

The rest is here:
A New Standard of Care? Enhertu Improves Survival in People With Metastatic HER2-Low Breast Cancer - Breastcancer.org

An experimental therapy has given one pancreatic cancer patient hope for new life.

Thanks to a one-and-done treatment, the 71-year-old womans metastatic cancer was reduced by 50% in just one month, according to her doctors. After six month, her tumors has shrunk by nearly three-quarters.

A case study about her remarkable cancer journey was published on Thursday in the New England Journal of Medicine.

Kathy Wilkes, of Ormond Beach, Florida, was diagnosed with aggressive pancreatic cancer in 2018. She underwent eight rounds of chemotherapy and an operation to remove part of her pancreas, but her cancer continued to spread into her lungs within a year.

Pancreatic cancer is one of the deadliest forms of the disease, with only about11% of patients expected to survive five years after diagnosis, according to the American Cancer Society.

Desperate to find a cure, Wilkes began looking into new treatments when she came across a 2016 case study in a prestigious research journal, also published in theNEJM, that seemed promising.

The research was undertaken by a team of more than a dozens experts, including from the National Institutes of Health following a treatment that had already helped one 50-year-old woman with colon cancer become disease-free.

Wilkes discovered that her cancer had the same KRAS G12D mutation that was investigated in the study and didnt hesitate to contact the studys lead doctor, Eric Tran, now at the Providence Cancer Institute in Portland, Oregon.

When I talked to my hometown oncologist and asked him what to do, he only had one answer, and that was chemotherapy. And I said, Thats not my answer, Wilkes told NBC News in a report published Wednesday.

After discussing with the doctors, Wilkes was also offered the highlighted gene-editing treatment, which modifies her DNA so that it will produce immune cells that recognize and attack tumor cells. Only about 4% of pancreatic cancer patients have the mutation that responds to this treatment, though the same mutation has also been found in other cancers.

Within one month of the experimental therapy, Wilkes tumors had shrunk in half. After six months, the tumors had been reduced by 72%. And while shes not yet cancer-free, her cancer has not grown since she began treatment.

I thought, That is the trial I want. I knew that that was the trial that was going to save me, save my life. I just had that feeling, Wilkes said.

The Providence Cancer Institutes Dr. Rom Leidner, co-author of the new report on Wilkes cancer treatment, called it a one-and-done measure, in NBC News report, that modified her cancer-fighting immune cells to grow and multiply over time.

Wilkes response has been encouraging, but more research is needed. Another patient with pancreatic cancer who received the same treatment at the Providence Cancer Institute did not survive.

It was an encouraging result, but its certainly far from a cure, Dr. Eric Rubin, the New England Journal of Medicines editor-in-chief, said in a statement to NBC News.

Doctors are now recruiting patients for aPhase 1 clinical trialto continue the research.

See original here:
Deadly cancer quickly shrinks by 50% with 'one-and-done' therapy: study - New York Post

It was a small trial, just 18 rectal cancer patients, every one of whom took the same drug.

But the results were astonishing. The cancer vanished in every single patient, undetectable by physical exam, endoscopy, PET scans or M.R.I. scans.

Dr. Luis A. Diaz Jr. of Memorial Sloan Kettering Cancer Center, an author of a paper published Sunday in the New England Journal of Medicine describing the results, which were sponsored by the drug company GlaxoSmithKline, said he knew of no other study in which a treatment completely obliterated a cancer in every patient.

I believe this is the first time this has happened in the history of cancer, Dr. Diaz said.

Dr. Alan P. Venook, a colorectal cancer specialist at the University of California, San Francisco, who was not involved with the study, said he also thought this was a first.

A complete remission in every single patient is unheard-of, he said.

These rectal cancer patients had faced grueling treatments chemotherapy, radiation and, most likely, life-altering surgery that could result in bowel, urinary and sexual dysfunction. Some would need colostomy bags.

They entered the study thinking that, when it was over, they would have to undergo those procedures because no one really expected their tumors to disappear.

But they got a surprise: No further treatment was necessary.

There were a lot of happy tears, said Dr. Andrea Cercek, an oncologist at Memorial Sloan Kettering Cancer Center and a co-author of the paper, which was presented Sunday at the annual meeting of the American Society of Clinical Oncology.

Another surprise, Dr. Venook added, was that none of the patients had clinically significant complications.

On average, one in five patients have some sort of adverse reaction to drugs like the one the patients took, dostarlimab, known as checkpoint inhibitors. The medication was given every three weeks for six months and cost about $11,000 per dose. It unmasks cancer cells, allowing the immune system to identify and destroy them.

While most adverse reactions are easily managed, as many as 3 percent to 5 percent of patients who take checkpoint inhibitors have more severe complications that, in some cases, result in muscle weakness and difficulty swallowing and chewing.

The absence of significant side effects, Dr. Venook said, means either they did not treat enough patients or, somehow, these cancers are just plain different.

In an editorial accompanying the paper, Dr. Hanna K. Sanoff of the University of North Carolinas Lineberger Comprehensive Cancer Center, who was not involved in the study, called it small but compelling. She added, though, that it is not clear if the patients are cured.

Very little is known about the duration of time needed to find out whether a clinical complete response to dostarlimab equates to cure, Dr. Sanoff said in the editorial.

Dr. Kimmie Ng, a colorectal cancer expert at Harvard Medical School, said that while the results were remarkable and unprecedented, they would need to be replicated.

The inspiration for the rectal cancer study came from a clinical trial Dr. Diaz led in 2017 that Merck, the drugmaker, funded. It involved 86 people with metastatic cancer that originated in various parts of their bodies. But the cancers all shared a gene mutation that prevented cells from repairing damage to DNA. These mutations occur in 4 percent of all cancer patients.

Patients in that trial took a Merck checkpoint inhibitor, pembrolizumab, for up to two years. Tumors shrank or stabilized in about one-third to one-half of the patients, and they lived longer. Tumors vanished in 10 percent of the trials participants.

That led Dr. Cercek and Dr. Diaz to ask: What would happen if the drug were used much earlier in the course of disease, before the cancer had a chance to spread?

They settled on a study of patients with locally advanced rectal cancer tumors that had spread in the rectum and sometimes to the lymph nodes but not to other organs. Dr. Cercek had noticed that chemotherapy was not helping a portion of patients who had the same mutations that affected the patients in the 2017 trial. Instead of shrinking during treatment, their rectal tumors grew.

Perhaps, Dr. Cercek and Dr. Diaz reasoned, immunotherapy with a checkpoint inhibitor would allow such patients to avoid chemotherapy, radiation and surgery.

Progress in the field. In recent years, advancementsin researchhave changed theway cancer is treated. Here are some recent updates:

The effect of weight loss. A new study found that people who lost significant amounts of weight through bariatric surgery had a 32 percent lower risk of developing cancerand a 48 percent lower risk of dying from cancer, compared with people who did not have the surgery. According to the study, the more weight people lost, the more their cancer risk fell.

Rectal cancer. A small trial that saw 18 rectal cancer patients taking the same drug, dostarlimab, appears to have produced an astonishing result: The cancer vanished in every single participant, undetectable by physical exam, endoscopy, PET scans or M.R.I. scans. Experts believe it to be the first time in history that a study has led to complete remission in every single cancer patient.

Pancreatic cancer. Researchers managed to tame advanced pancreatic cancer in a womanby genetically reprogramming her T cells, a type of white blood cell of the immune system, so they can recognize and kill cancer cells. Another patient who received the same treatment did not survive.

Chemotherapy. A quietrevolution isunderway in the field of cancer treatment: A growing number of patients, especially those with breast and lung cancers, are being spared the dreaded treatmentin favor of other options.

Leukemia. After receiving a new treatment, called CAR T cell therapy, more than a decade ago, two patients with chronic lymphocytic leukemia saw the blood cancer vanish. Their cases offer hope for those with the disease, and create some new mysteries.

Dr. Diaz began asking companies that made checkpoint inhibitors if they would sponsor a small trial. They turned him down, saying the trial was too risky. He and Dr. Cercek wanted to give the drug to patients who could be cured with standard treatments. What the researchers were proposing might end up allowing the cancers to grow beyond the point where they could be cured.

It is very hard to alter the standard of care, Dr. Diaz said. The whole standard-of-care machinery wants to do the surgery.

Finally, a small biotechnology firm, Tesaro, agreed to sponsor the study. Tesaro was bought by GlaxoSmithKline, and Dr. Diaz said he had to remind the larger company that they were doing the study company executives had all but forgotten about the small trial.

Their first patient was Sascha Roth, then 38. She first noticed some rectal bleeding in 2019 but otherwise felt fine she is a runner and helps manage a family furniture store in Bethesda, Md.

During a sigmoidoscopy, she recalled, her gastroenterologist said, Oh no. I was not expecting this!

The next day, the doctor called Ms. Roth. He had had the tumor biopsied. Its definitely cancer, he told her.

I completely melted down, she said.

Soon, she was scheduled to start chemotherapy at Georgetown University, but a friend had insisted she first see Dr. Philip Paty at Memorial Sloan Kettering. Dr. Paty told her he was almost certain her cancer included the mutation that made it unlikely to respond well to chemotherapy. It turned out, though, that Ms. Roth was eligible to enter the clinical trial. If she had started chemotherapy, she would not have been.

Not expecting a complete response to dostarlimab, Ms. Roth had planned to move to New York for radiation, chemotherapy and possibly surgery after the trial ended. To preserve her fertility after the expected radiation treatment, she had her ovaries removed and put back under her ribs.

After the trial, Dr. Cercek gave her the news.

We looked at your scans, she said. There is absolutely no cancer. She did not need any further treatment.

I told my family, Ms. Roth said. They didnt believe me.

But two years later, she still does not have a trace of cancer.

See the rest here:
Small Study on Rectal Cancer Results in Remission in Every Patient - The New York Times

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People and economies globally rely substantially on the healthcare business. It is one of the fastest-growing industries. There is a correlation between income levels and healthcare spending in different nations, with healthcare spending accounting for more than 10% of most industrialized countries GDP.

The Centers for Medicare and Medicaid Services data calculates that the U.S. national healthcare expenditure reached US$ 4.1 trillion in 2020 and is forecast to surpass US$ 6.2 trillion by 2028. According to the Commonwealth Fund, the U.S. spent nearly 17% of gross domestic product (GDP) on healthcare in 2018. Switzerland was the second-highest-ranking country, spending 12.2%. In addition, New Zealand and Australia dedicate only 9.3%.

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According to the United States, Bureau of Labor Statistics, healthcare employment is likely to grow 16% from 2020 to 2030, much faster than the average for all occupations, with about 2.6 million new jobs. This projected increase is primarily due to an aging population, which indicates a higher demand for healthcare services. In May 2021, the median annual wage for healthcare practitioners and technical sectors (such as registered nurses, physicians and surgeons, and dental hygienists) was US$ 75,040, which was higher than the economys median annual wage of US$ 45,760.

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The European legislature and decision-makers should be aware that EU health systems are facing challenges arising from an aging population, citizens rising expectations, migration, and mobility of patients and health care professionals. Statista data shows the number of individuals employed in Europes hospitals in 2019. In 2019, there were more than 1.5 million people employed in hospitals in the UK, the largest number in Europe.

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Global COVID-19 cases have climbed above 516 million as of May 2022, and the death toll has exceeded 6.25 million. COVID-19 has disproportionately impacted specific racial and ethnic minority groups, as well as underserved and marginalized communities, highlighting the persistent challenges of health equity and health outcomes.

COVID-19 is causing a great deal of emotional, physical, and professional stress among health care personnel. The changing attitudes and behaviors of consumers, the integration of life sciences and health care, fast-growing digital health technology, new talent, and care delivery models, and clinical innovation advanced by COVID-19.

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As sector players and the customers, they serve to adapt to a new world of remote working, virtual doctor visits, and a supply chain plagued by shortages of medical goods, employees, and services, the sector is reforming to become more customer-centric.

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Gene Therapy Market Share 2022 | Product Types and Application, Growth, Share, Top Key Players with Sales, Price, Business Overview - Digital Journal

Almost a third of melanomas picked up during routine skin checks may not be harmful, a study suggests.

Researchers followed tens of thousands of Queenslanders over seven years and found melanoma detections were significantly higher among the group who had their skin examined by a doctor before enrolment in the study.

QIMR Berghofer Medical Research Institute cancer scientist David Whiteman, who led the study, said the results suggested that up to 29 per cent of the melanomas detected during skin checks may never have come to light if that person had not been screened.

"It suggests that skin examinations and biopsies are picking up things that look and feel just like melanomas, but they don't always behave like them or cause harm," he said.

"Under the microscope, they look like a melanoma, on the skin they look like a melanoma. But for some reason, a proportion of them will just be there on your skin and never actually burrow deeper and never spread further."

Melanoma kills about 1,400 Australians every year, with more men dying than women.

Queensland has the highest rates of the skin cancer in the world.

Professor Whiteman said the research did not lessen the importance of Australians being sun safe and undergoing regular screening for skin cancers.

But it paved the way for some "exciting" research possibilities to improve the diagnosis and treatment of the disease.

"At this point in time, we can't tell which are the bad ones and which are the good ones," ProfessorWhiteman said.

"It might be an immune thing, it might be a genetic thing, it might be a molecular thing that as yet we can't detect that makes it less aggressive and more benign."

QIMR Berghofer genetic researchers are already investigating whether particular genes in melanoma cells influence the behaviour of the skin cancer, leading to the development of more serious disease.

"We want to be able to do a test to see whether or not certain melanomas themselves carry a mutation that makes their melanomas either more or less aggressive," ProfessorWhiteman said.

He said some people may also have inherited genes that made them less vulnerable to the effects of cancers.

"Those people might have a genetic susceptibility or a genetic strength, if you like, that increases or decreases the risk of a melanoma spreading in their body," he said.

Another possibility relates to the immune system differences.

"We do know that our immune systems do mount an immune response to cancers, particularly to melanomas," Professor Whiteman explained.

"Because melanomas are often highly mutated tumours, they often express lots of weird proteins on their surface, and those proteins can provoke an immune response.

"We know that the immune system is really important in fighting melanomas but whether or not that explains why some melanomas just sit there on the skin and don't progress we don't yet know."

The big hope is that more research will lead to the identification of triggers that switch a melanoma from being benign into an aggressive tumour.

"That trigger might be something that can be targeted with a designed drug or a designed genetic therapy that might be able to switch a gene on or off," ProfessorWhiteman said.

He said further studies may also lead to better diagnostic tools.

"Patients diagnosed with melanoma have to live with the fact they have a potentially fatal cancer and endure ongoing check-ups and scans," he said.

"If we can find a way to distinguish the melanomas with a good prognosis from the very nasty melanomas, we might be able to offer patients better information about their condition and more appropriate treatment options.

"It would also help alleviate pressure on the healthcare system as melanoma treatment is very, very costly."

Professor Whiteman urged Queenslanders to continue to "slip, slop, slap" even in winter.

"Every time you get exposed to the sun, there is the potential that damage can happen," he said.

"We still advocate that you're better off never getting a melanoma in the first place.

"Primary prevention remains our strong message but early detection also is extremely important."

Cancer Council Australia recommends that people regularly examine their skin and consult their doctor if they notice any changes such as a new spot or changes in the size, shape or colour of an existing spot.

Posted6 Jun 20226 Jun 2022Mon 6 Jun 2022 at 4:15am, updated6 Jun 20226 Jun 2022Mon 6 Jun 2022 at 6:02am

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New research finds nearly a third of melanomas found during skin checks may not be harmful, improving treatment options - ABC News

Thalassemia is an inherited blood disorder passed to a child by either of the parents. It causes defective red blood cell production leading to low haemoglobin and such patients require lifelong blood transfusion to cope with their lives.There are two types of thalassemia alpha and beta. Dr Ganesh Jaishetwar, consultant hematologist, hemato-oncologist and bone marrow transplant physician, Yashoda hospitals Hyderabad, told indianexpress.com, The affected children with both defective globin genes are called as thalassemia major who need regular blood transfusions and these cases can be fatal before 30 years of age, whereas the person with one defective globin gene and one normal gene are thalassemia carriers and such carriers remain asymptomatic with normal life expectancy.

One major purpose to mark this day is to debunk myths associated with thalassemia and help the patients lead a normal life. Some of the various myths and corresponding facts, as laid out by Dr Jaishetwar are:

Myth: Thalassemia is not preventable

Fact: Some communities have a higher prevalence of this gene. According to the health expert, the thalassemia trait in young couples belonging to such at risk population can be detected by haemoglobin electrophoresis by HPLC. The beta gene mutation is subjected to detection by DNA analysis.

During early pregnancy in such at-risk thalassemia carriers, the DNA mutation analysis from the chorionic villus biopsy or amniotic fluid analysis can help check if the index fetus is thalassemia major. If so, we could offer medical termination of pregnancy (depending upon cultural and religious belief of the couple) to prevent birth of a thalassemia major child. Thus, Thalassemia major is preventable, said the hematologist.

Myth: Thalassemia carriers should not get married to each other and they will always have a thalassemia major child

Fact: As long as people with thalassemia minor know of each others thalassemia status and their DNA mutation testing, they can get married to each other. To ensure a non-thalassemia major birth, one can go for the pre-implantation genetic testing, PGTM (pre-implantation embryonic genetic testing) to select the embryo that does not have the thalassemia gene.

There is only a 25 per cent chance that the foetus could be thalassemia major, but a 50 percent chance that it could be thalassemia minor like either of the parents. In the remaining 25 per cent chance, the child could be normal. Which means that 75 per cent of the time there is no fear of a thalassemia major birth, the doctor explained.

Myth- There is no treatment for thalassemia major

Fact: If a thalassemia major child is transfused with leukocyte filtered blood regularly, he or she can reach adulthood in good health.

Additionally, the expert also mentioned the importance of looking at the level of ferritin for iron overload and medicines that remove excess iron from the blood through the urine which includes the oral iron chelation agent.

He said in order to get the best results for a proper growth, proper check-ups for early organ damage by MRI of the heart, pancreas and liver should also be performed. This would ensure the thalassemia patients a good quality of life. Bone marrow transplant and gene therapy are other treatment options for thalassemia major patients, according to the health expert.

Myth Thalassemia major cannot be cured.

Fact: According to the expert, there are ways to cure thalassemia major. He said, Along with blood transfusions, allogeneic bone marrow transplantation can be a curative option for thalassemia major. Another important therapy with curative potential for thalassemia major is gene therapy which has shown promise in phase II trials. He mentioned gene therapy for curative potential for thalassemia major.

Dr Jaishetwar also mentioned novel therapies like Luspatercept that can help improve the haemoglobin of thalassemia major. He said this can contribute to making them relatively transfusion independent, however, it is expensive and needs a long-term treatment.

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World Thalassemia Day 2022: Doctor explains myths and facts about this blood disorder - The Indian Express

Astute Analytica publishes a research report on the global Gene Therapy Market. The analysis report contains in-depth data about demand, growth, opportunities, challenges, and restraints. In addition, it provides a thorough examination of the structure and possibility of global and regional industries.

The global Gene Therapy Market study includes information from key firms on R&D, new product launches, and product responses from global markets. The analysis includes a graphical presentation and a diagrammatic examination of the global market by region.

The global Gene Therapy Market size was US$ 5.8 billion in 2020 and is forecast to reach US$ XX billion by 2027, growing at a compound annual growth rate (CAGR) of 24% during the forecast period from 2021 to 2027.

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People and economies globally rely substantially on the healthcare business. It is one of the fastest-growing industries. There is a correlation between income levels and healthcare spending in different nations, with healthcare spending accounting for more than 10% of most industrialized countries GDP.

The Centers for Medicare and Medicaid Services data calculates that the U.S. national healthcare expenditure reached US$ 4.1 trillion in 2020 and is forecast to surpass US$ 6.2 trillion by 2028. According to the Commonwealth Fund, the U.S. spent nearly 17% of gross domestic product (GDP) on healthcare in 2018. Switzerland was the second-highest-ranking country, spending 12.2%. In addition, New Zealand and Australia dedicate only 9.3%.

Regional Analysis

According to the United States, Bureau of Labor Statistics, healthcare employment is likely to grow 16% from 2020 to 2030, much faster than the average for all occupations, with about 2.6 million new jobs. This projected increase is primarily due to an aging population, which indicates a higher demand for healthcare services. In May 2021, the median annual wage for healthcare practitioners and technical sectors (such as registered nurses, physicians and surgeons, and dental hygienists) was US$ 75,040, which was higher than the economys median annual wage of US$ 45,760.

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The European legislature and decision-makers should be aware that EU health systems are facing challenges arising from an aging population, citizens rising expectations, migration, and mobility of patients and health care professionals. Statista data shows the number of individuals employed in Europes hospitals in 2019. In 2019, there were more than 1.5 million people employed in hospitals in the UK, the largest number in Europe.

Impact Analysis of COVID-19

Global COVID-19 cases have climbed above 516 million as of May 2022, and the death toll has exceeded 6.25 million. COVID-19 has disproportionately impacted specific racial and ethnic minority groups, as well as underserved and marginalized communities, highlighting the persistent challenges of health equity and health outcomes.

COVID-19 is causing a great deal of emotional, physical, and professional stress among health care personnel. The changing attitudes and behaviors of consumers, the integration of life sciences and health care, fast-growing digital health technology, new talent, and care delivery models, and clinical innovation advanced by COVID-19.

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As sector players and the customers, they serve to adapt to a new world of remote working, virtual doctor visits, and a supply chain plagued by shortages of medical goods, employees, and services, the sector is reforming to become more customer-centric.

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Gene Therapy Market Size, Share Key Facts and Forecast Predictions Presented 2021-2027 SMU Daily Mustang - SMU Daily Mustang

Pompe disease is a rare genetic disorder that disables the heart and skeletal muscles.

The inherited disorder can develop at any age, although the often-fatal disorder has faster progression and greater disease severity in earlier onset diagnoses.

Pompe disease occurs in every 1 in 40,000 births and can sometimes be mistaken for other genetic diseases. Thats because Pompe disease has symptoms similar to those of other genetic conditions.

There are, however, certain distinctions that can help physicians determine if its Pompe disease or something else.

Heres what you need to know about the symptoms of Pompe disease and how it compares to similar genetic diseases.

Pompe disease is an inherited disorder caused by a total absence of acid alpha-glucosidase, or GAA, an enzyme that helps break down glycogen in the body.

Since individuals with Pompe disease dont have GAA activity in their bodies, they experience a rapid buildup of glycogen in their heart and skeletal muscles. This rapid buildup then contributes to a host of symptoms associated with Pompe disease.

Because its a rare disorder, Pompe disease often requires a team of specialists, including internists, neurologists, pediatricians, orthopedists, cardiologists, dietitians, and physical therapists to manage treatment.

Pompe disease treatment plans are based on self-descriptions or descriptions provided by a caregiver. They often include enzyme replacement therapy (ERT), which involves intravenous administration of the GAA enzyme. ERT can help extend the life expectancy for people with Pompe disease. However, the disorder has no known cure.

Supportive therapy, like physical or speech therapy, is also a common part of treating Pompe disease, particularly in those diagnosed with the infantile onset subtype. Speech therapy may be needed as weakened facial muscles may make it difficult to articulate speech. Difficulty swallowing and even breathing call for further therapies.

Symptoms of Pompe disease generally affect the heart and skeletal muscles.

People who have an infantile form of Pompe disease, which usually presents within the first three months of life, experience the most severe symptoms. These include:

When these symptoms are combined, they often result in cardio-respiratory failure within the first 2 years of life. Infants with Pompe disease will often have a large, protruding tongue and an enlarged liver. Their legs may rest in a frog position and feel firm to the touch.

Childhood and adult Pompe disease often sees progressive weakness in the arms and legs, which can affect mobility and balance. Progressive respiratory weakness can also occur from dysfunction of the diaphragm and muscles between the ribs.

Younger individuals with Pompe disease may also experience scoliosis, or an abnormal curvature of the spine. This typically occurs at puberty due to muscle weakness in the spinal area.

As a result, people with Pompe disease may require wheelchairs or ventilators.

Other symptoms of Pompe disease include:

There are several genetic diseases that Pompe disease can be mistaken for.

Werdnig-Hoffman disease, or spinal muscular atrophy type 1 (SMA type 1), is a rare genetic disorder that can be confused with Pompe disease. Like Pompe disease, its characterized by progressive muscle weakness. Poor muscle tone is another symptom of Werdnig-Hoffman.

However, unlike Pompe disease, SMA type 1 doesnt affect the heart an important distinction.

Danon disease is another genetic disorder that can mimic symptoms of Pompe disease.

It also causes muscle weakness and cardiomyopathy, a disease of the heart muscle that can lead to heart failure. Because of this, men with Danon disease may need a heart transplant at some point in their lives.

The disease can cause intellectual disability as well, though the majority of associated cognitive deficits tend to be mild.

Neurological symptoms arent generally linked to Pompe disease.

Endocardial fibroelastosis, which can occur as a result of genetics, affects the heart. This disease is characterized by a thickening of the muscular lining of the heart chambers due to an increase in supporting connective tissue and elastic fibers.

Like Pompe disease, individuals with endocardial fibroelastosis experience impaired heart and lung function. However, the reason behind the impaired function differs.

Facioscapulohumeral dystrophy (FSHD) can mimic some symptoms of childhood and adult Pompe disease. It includes weakness of upper arm muscles, face, and shoulders.

Limited movement of the lips and difficulty raising the arms over the head may lead a physician to perform a confirmatory diagnostic test on chromosome 4. The mutations that occur in Pompe disease are localized to chromosome 17.

Duchenne muscular dystrophy, or DMD, is a genetic muscle disorder that, like Pompe disease, includes muscle weakness. It often occurs in early childhood or infancy.

DMD is the result of changes or mutations of the DMD gene on the X chromosome. It typically causes individuals to develop cardiomyopathy and respiratory difficulties. In addition, muscles in the upper legs, upper arms, and pelvic area become weakened.

Molecular genetic tests, a thorough clinical evaluation, and a detailed patient history are all part of reaching a DMD diagnosis.

Becker muscular dystrophy is characterized by similar muscle weakness as seen in Duchenne muscular dystrophy but often occurs at a later age. People with this condition are often able to walk independently into their 20s.

Doctors reach a Becker muscular dystrophy diagnosis through a close assessment of a persons physical symptoms, their family history, and testing that shows an elevated concentration of creatine kinase (CK) in the blood.

Pompe disease falls into a category of conditions known as glycogen storage diseases, which include changes in the way bodies use and store glycogen.

Other glycogen storage diseases that Pompe disease can sometimes be mistaken for are McArdle disease (GSD type V) and Hers disease (GSD type VI). McArdle disease, however, only affects the skeletal muscles, while Hers disease affects the liver.

Although some effects of Pompe disease can overlap with other genetic diseases, its important to keep a close eye on symptoms and their severity. This is the first step in obtaining an accurate diagnosis.

Consider making a list of all symptoms, when they occur, what causes them to worsen, and how they affect you. This is an important part of the patient analysis your doctor will perform.

You can also expect your doctor to take a blood sample to study and count the enzymes in your blood.

Several other tests are used to diagnose Pompe disease:

Although Pompe disease is similar to some other genetic disorders, treatments differ, and its important to get an accurate diagnosis for proper care and improved quality of life.

See the rest here:
Pompe Disease and Other Genetic Disorders - Healthline

Every year millions of people cross borders to undergo medical treatments that are either unavailable in their home country or too expensive. For many, this is a last resort to ease the pain of a debilitating disease or defy a terminal diagnosis; for others the goals are purely cosmetic. But in the past few years a new type of medical tourist has emerged: those seeking to radically extend their lives.

There are more older people than ever before and more people in search of longevity. In the UK, people over the age of 65 made up 19% of the population in 2019, a jump of 23% from 2009, in a period when the total population only increased by 7%. And recent advancements in the science of ageing have given them hope that they dont have to go so gently into that good night after all.

But while science has made some promising breakthroughs in studying the causes and implications of ageing, real solutions are some way off. In that gap between supply and demand, a host of fraudsters and scam artists are ready to take advantage of anyone gullible enough to believe they can pay a little extra for a few extra years among the living. Many offer their services abroad, in countries where regulation is light.

Medical tourism has produced a steady stream of horror stories since cheaper air travel kickstarted a rise in its popularity, from botched nose jobs and broken smiles to a fair number of deaths. Despite this, it remains a gigantic industry. According to Patients Beyond Borders, the global medical tourism market was worth $74bn-$92bn (59bn-73bn) in 2019.

A prime example is stem cell therapies, regenerative treatments aiming to use the bodys building-block cells to rejuvenate and fix damage caused by disease or deterioration an area of research with a lot of potential but relatively few established and approved treatments available to patients. However, the potential effects, most often exaggerated or unsubstantiated, lure the desperate to travel far and wide to seek treatments, sometimes from practitioners of ill repute. According to research published last year, the leading countries for stem cell tourism are the US, China, India, Thailand and Mexico. The same report states that stem cell technologies are often associated with inflated expectations of their therapeutic potential.

Stem cell therapies can also help with cancer and other illness, but during my reporting for my book The Price of Immortality: The Race to Live Forever, I found a number of examples of US-based stem cell companies offering miracle cures and solutions to ageing. One clinic in Iowa was found to have made outrageous claims in presentations to potential clients. Anti-Aging: Mesenchymal Stem Cell infusions turned back the hands of Father Time about three years! Would you like to get back three years? read one slide of sales material, collected by the state attorney generals office that was suing the company for false advertising.

Even when prosecuted or disciplined in one country, stem cell practitioners have been known to move on and continue to offer the same services elsewhere. One in Florida had his medical licence revoked in 2015, after two of his patients undergoing stem cell therapy had died. When I looked up the name of the doctor, he was listed as the chief science officer at another stem cell company. A cheerful receptionist told me on a call that the clinic was still operational and carrying out procedures in the Dominican Republic, a medical tourism hotspot.

Stem cell therapies are not the only anti-ageing offerings luring people abroad for treatment. The nascent field of gene therapies is in a similar position, where promising research has yet to result in accessible interventions. I also recently heard from a life extension enthusiast in the US who planned to travel to France to undergo plasmapheresis, a procedure he claimed would rejuvenate his blood and give him a better chance of living until he was 500.

In some cases, patients dont need even need to fly abroad to access drugs that have the potential to make them live longer. I spoke to an elderly woman in London who buys the cancer drug dasatinib from a website in India, and takes it in the hope it will destroy senescent cells, which are thought to play an integral role in the ageing process.

Gerontologists and other researchers find the practice frustrating. Several scientists I spoke to, particularly in the stem cell field, are worried these clinics are making a quick buck on the back of their breakthroughs while damaging the reputation of these nascent medical technologies. They preach patience, a virtue in short supply for people who see the end of their lives on the horizon.

Medical tourism presents clear dangers. Patients may not find the same standard of care they are used to at home, and it is harder to establish that the doctor or clinic is legitimate. Patients can also suffer from side-effects if they fly home too early after a procedure; communication barriers can also cause issues.

For someone seeking treatment they cant afford at home or a last-gasp unapproved cure for a deadly disease, these risks are worth taking. But for people merely seeking to improve their chances of living radically extended lives, the gamble is much larger, particularly when theres no evidence that any medical intervention could work. In a best-case scenario, they leave with a lighter wallet. In the worst, their quest to live a little longer is cut ironically short.

The Price Of Immortality by Peter Ward (Melville House, 20). To support The Guardian and Observer, order your copy at guardianbookshop.com. Delivery charges may apply.

Link:
Medical tourists are travelling the world in search of the elixir of life - The Guardian

For Dr Jogin Desai, CEO and co-founder of Eyestem, a leading Indian cell therapy company, a meeting in 2015 with ophthalmologist Dr Rajani Battu for a medical appointment changed everything. Following the appointment, she introduced him to patients diagnosed with degenerative diseases of the eye and the terrible suffering they have to endure.

It was an eye-opener for Desai, a native of Ahmedabad and an expert in the field of drug development. Desai, at the time, was CEO of Cenduit, an industry leader in the IRT (interactive response technology) market and the eClinical field.

From school students who cannot see their blackboards to families with children suffering from blindness because of genetic disorders and senior citizens who have lost all agency due to their inability to read, the conversation opened my eyes to a world that I didnt know existed. In the same week, I met Prof S. Ramaswamy at Instem (Institute for Stem Cell and Regenerative Medicine), again for something completely unrelated, and we discussed the possibilities of how the next two-three decades will evolve with the maturation of cell and gene therapy products worldwide, recalls Desai, in a conversation with The Better India.

Following the meeting, it dawned on Desai at the time that the world is on the cusp of a fundamental change in the healthcare landscape that will evolve over the next few decades.

Today, Dr Rajani Battu is the chief medical officer at Eyestem.

Diseases that were previously incurable will start becoming curable. As I dove deeper, I understood that most of these therapies developed in the West will cost upwards of $450,000 (about Rs 3.5 Crore) per injection. This, I believe, presented a once-in-a-lifetime opportunity for a platform that can help disrupt this paradigm and create an incredible impact on the lives of patients. I made the decision to establish Eyestem within two days of these meetings in late 2015, adds Desai.

Eyestems vision is to create a scalable cell therapy platform to treat incurable diseases and democratise access to these newer technologies.

Incorporated in late 2015, Eyestem started operations in early 2017.

As cell and gene therapies become available across the world, they will only be available to the top 0.01 % of the worlds population. Our purpose is simple: We aim to democratise access by creating a therapy that is available to a large part of the bottom 99.99% of the population in the world. To our knowledge, we are the only company in the world with such a mission. While it is hard to predict the price of the therapy at this stage we anticipate the therapy to cost 80-90% cheaper than such comparable therapies in the West. The only purpose to start Eyestem has been ensuring that the therapy reaches the people that need it the most, claims Desai.

Through its flagship product Eyecyte-RPE, the company replaces lost retinal pigment epithelium cells. It is designed to restore sight for patients in the early stages of Age-Related Macular Degeneration (AMD) and arrest losses for those in the later stages.

There is no cure for Dry Age-Related Macular Degeneration in the world. It is the largest cause of blindness for people over 50. It is estimated that over 170 million people (40 million of which are in India) suffer from this disease. Eyestem is looking to take Eyecyte-RPE for Dry AMD through clinical trials and is one of six companies worldwide pursuing this treatment, he says.

Underpinning this type of treatment are Induced-Pluripotent Stem Cell (iPSC)-based products. An iPSC is a cell that can be developed into any cell of the body. At present, there are no iPSC-based products approved anywhere in the world.

Over the next ten years, Desai explains that several such products will start becoming available in the market and diseases such as inherited blindness/pulmonary fibrosis/diabetes which were hitherto considered incurable will start becoming curable.

Subsequently, an explosion in iPSC based therapeutics combined with gene engineering will be the next wave of pharma innovation. A lot of diseases occur when the cells of our body die early or are malfunctioning. At its most basic detail, one can create tissue of any kind (be it brain, heart, lung, eye, liver, kidney) through iPSC and replace the lost/damaged cells of the body. For example, in Dry AMD, the RPE layer degenerates and our treatment would be to inject that layer (from a healthy donor) back into the body part to treat the disease, he explains.

Curing Incurable Blindness and Other Diseases

So, how does Eyestems flagship product, Eyecte-RPE, work as a mode of treatment?

The Retinal Pigment Epithelium (RPE) is one of ten layers of the retina and acts as a foundation on which the rest of the retina sits. In Dry AMD, the RPE layer disintegrates and the retinal layers disintegrate just as a building collapses when the foundation collapses.

We have grown the RPE layer in our lab and this is Eyecyte-RPE, our flagship product. This product has been injected into special models of blind rats. We have proven that the rats where our product is injected can retain their sight while the ones that are controlled rats go blind. This animal experiment has been done at Oregon Health and Science University which is a global centre of excellence for macular degeneration research. The DCGI (Drugs Controller General of India) has approved manufacturing only for clinical trials and we have not yet applied for commercial manufacturing, he explains.

In addition to this, Eyestem is also among one of five companies globally advancing the treatment of Retinitis Pigmentosa (RP) to the market called Eyecyte-PRP. Eyecyte-PRP replaces the photoreceptor cells that are lost as a consequence of this disease. RP is a group of rare, genetic disorders that involve loss of the light-sensing photoreceptor cells in the retina. It affects children and causes total blindness by the time they reach their 20s and 30s. It is estimated to affect 4 million children worldwide, of which 1.5 million are in India. Human trials for Eyecyte-PRP to treat retinitis pigmentosa is expected to begin in the second half of FY 2023.

Similarly, Eyestem is also looking to treat Idiopathic Pulmonary Fibrosis (IPF), a serious chronic disease that affects the tissue surrounding the alveoli (tiny air sacs in your lungs), with a pluripotent stem cell-based approach.

Our first human trials for our Aircyte-AEC treatment to treat idiopathic pulmonary fibrosis will begin in the second half of FY2024. Aircyte-AEC is a suspension of lung alveolar epithelial cells that are lost due to this disease. It is worth noting that pulmonary fibrosis occurs as an end-stage event in several other diseases like COVID-19, Tuberculosis and Chronic Obstructive Pulmonary Disease, notes Desai.

Meanwhile, for the sake of clarification, we asked Desai whether cell therapy necessarily means stem cell therapy? Yes, it means the same from a laymans perspective. The only difference is that there are clinics that advertise stem cell therapy for patients in India as well as the US. It is important to remember that none of these stem cell therapy products are approved by the DCGI in India or the FDA in the United States, he notes.

State of Cell Therapy in India, Funding and Moving Ahead

There are only a handful of companies in India that are pursuing cell therapy. According to Desai, the developed world, especially countries like Israel, Japan and the United States, are at least two decades ahead of India in that regard.

As more incurable diseases become curable (think diabetes or cancer) it is absolutely imperative for India to develop a base of such product development research or else we will find ourselves in a situation similar to the HIV epidemic (and cell therapy is not easy to reverse engineer unlike HIV medicines). Our patients will be at the mercy of predatory pricing of global pharma unless globally innovative products are manufactured and made available locally. Our nine-member team at Eyestem, a majority of whom are cell biology scientists specializing in this field, is looking to significantly address this issue in advance, says Desai.

Meanwhile, Desai claims that his venture has been very selective in raising funds so far since its purpose is not to raise rounds of money with higher valuations but to benefit end patients. They are laser-focused on creating affordable cell therapy and hence have set themselves a benchmark of not spending more than $4 million from idea to first in human trials. Most pharmaceutical companies, he claims, spend 10 times this amount to reach this stage.

Any drug development venture needs smart money. We were fortunate to have interest from a group of investors who have multi-decade experience in global drug development. Two institutional investors (Endiya Partners and Kotak Private Equity) joined in a subsequent pre-series A round. We are currently raising our series A and we are halfway there. About 30% has been committed by current shareholders and we have a soft commitment from a global venture fund for the other 20%. We anticipate closing this round in the next 8-12 weeks. Investors invest in ventures like ours due to the promise of immense market potential for these therapies. As soon as one obtains human data, startups like ourselves reach an inflexion point and become extremely valuable, claims Desai.

Please Note: The Better India does not verify for the future efficacy of any therapy or medical treatment mentioned in the article. Kindly consult your doctor for an informed medical opinion.

(Edited by Vinayak Hegde)

Read the original here:
Doctor Innovates Cell Therapy in India; Seeks to Make Vision Restoration 80% Cheaper - The Better India

The hemochromatosis gene, known as HFE, helps regulate the bodys absorption of iron. Some people can inherit a mutation to this gene that causes their bodies to absorb too much iron. Most cases occur due to C282Y and H63D mutations. When this happens, a person can develop hemochromatosis.

A person may develop symptoms related to too much iron in the body, such as joint pain, fatigue, and a loss of libido. Over time, they may also develop serious complications, such as liver damage.

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) states that rare forms of hemochromatosis, called non-HFE hemochromatosis, occur due to mutations in the HAMP and HJV genes. Healthcare professionals may also refer to the HJV gene as the HFE2 gene.

If these mutations occur, a person will develop complications and symptoms at a younger age. They may also develop complications by the time they are teenagers.

This article reviews what the hemochromatosis gene is, symptoms associated with hemochromatosis, and more on how a person inherits the gene.

Hereditary hemochromatosis is a genetic disease that alters how the body regulates iron absorption. The condition causes a persons iron levels to increase to dangerous levels.

According to the National Human Genome Research Institute, in the case of hereditary hemochromatosis, a person is likely to develop the condition if they inherit two copies of the mutated hemochromatosis gene, or HFE gene. However, it is important to note that not everyone who inherits two copies will experience symptoms.

A person who inherits one copy of the mutated gene will either not develop signs and symptoms or experience mild symptoms.

When functioning normally, this gene helps regulate and prevent the excessive absorption of iron. When too much iron circulates in the body, it can cause damage to tissues and organs.

Some affected areas include:

Hereditary hemochromatosis affects approximately 1 million people in the United States.

When too much iron consistently enters the body, a person may start to experience symptoms related to the condition.

The NIDDK states that common symptoms of too much iron include:

People may also experience a darkening of their skin color, which initially appears on sun-exposed areas such as their face. This is often known as bronzing.

Not everyone will develop symptoms. Additionally, symptoms usually occur after a person reaches 40 years old, and females may develop symptoms 10 years later compared to males.

Without treatment, a person may develop complications that could cause additional symptoms. Some potential complications include:

Both parents can carry the hereditary hemochromatosis gene.

According to the National Human Genome Research Institute, a child that inherits two copies of the mutated gene has a high risk of developing hemochromatosis. However, having two copies does not guarantee a child will develop the condition.

When a person inherits only one copy of the gene, they may not develop any symptoms of the condition at all, or they may only develop slight symptoms. In these cases, they may become silent carriers of the condition.

In other words, if they have a child with another silent carrier, their child has a chance of inheriting two mutated genes and a higher chance of developing hemochromatosis.

Parents pass the hemochromatosis gene to their children. A child inherits two copies of the gene, one from each parent.

The affected genes may be recessive or dominant, which affects how many copies of the genes a person needs to develop the condition.

According to the Genetic and Rare Diseases Information Center (GARD), a child of two recessive gene carriers has a:

On the other hand, a child with a dominant gene change has a:

Several potential mutations can occur within the genes that can cause hereditary hemochromatosis to develop.

The location of the mutation determines the type of hereditary hemochromatosis a person may develop. Healthcare professionals classify the type of hereditary hemochromatosis based on the age of onset, which genes are affected, and how it is inherited.

A person can inherit an autosomal recessive condition if they inherit one copy of a mutated gene from each parent.

Individuals can develop an autosomal dominant condition if they inherit a single copy of the mutated gene from one parent. A person has a 50% chance of inheriting the mutated gene and developing the condition.

GARD states that the mutations can occur on the following genes:

Type 5 hereditary hemochromatosis occurs due to changes with the FTH1 gene. Only one family in Japan has reported the condition.

According to a 2015 article, healthcare professionals perform gene testing for hereditary hemochromatosis if they suspect a person has an iron overload alongside high levels of ferritin, which is a blood protein that stores iron, and transferrin, which is a protein in that transports iron the blood. High levels can indicate that a person has hemochromatosis.

Gene testing can confirm a hereditary hemochromatosis diagnosis.

A person with hemochromatosis will need regular testing as part of their treatment. Testing can help check iron levels and look for complications related to too much iron.

A doctor may recommend some common tests, such as a complete blood count to check for iron and protein levels, a liver biopsy to check for liver damage, and an MRI.

A person with hemochromatosis has a good chance of living a normal, healthy lifespan provided they seek treatment for their condition.

Without diagnosis and treatment, a person has a higher chance of developing serious health complications, such as liver damage or heart disease, that can affect a persons overall outlook and life expectancy.

The most common treatment for reducing iron in the blood is via phlebotomy, or drawing blood. In addition, a doctor may recommend dietary changes, iron chelation therapy, and treating any complications of the disease.

At first, a person will likely need regular blood draws. Once their blood iron levels reach a normal level, the number of blood draws will vary based on how well their ferritin and transferrin saturation levels stay within the normal range.

Regular treatment can help prevent complications and reduce their impact on a persons life if they have already begun. As a result, a person should seek treatment even if complications have already started.

A person who has a sibling living with hereditary hemochromatosis should speak with a doctor about undergoing genetic testing due to an increased risk of also having the mutated genes.

Additionally, a person with a parent who either has the condition or is a known carrier should speak with a doctor about genetic testing.

Finally, a person who knows they may have the mutated genes should speak with a doctor if they develop any symptoms that could indicate a problem with iron absorption.

Hereditary hemochromatosis can occur when a person inherits one or more copies of a mutated HFE gene. Hemochromatosis results in the body absorbing too much iron, which can lead to complications, such as cirrhosis.

A person should seek treatment for the condition as soon as possible to help prevent complications. Treatment typically involves blood draws to help reduce iron levels.

A person should also contact a doctor if they experience symptoms of iron absorption issues and have a known family member who either is living with the condition or may be a carrier.

View post:
Hemochromatosis gene: Definition, signs, and is it hereditary? - Medical News Today

This week on Market Squared we look at the trucker convoys and protests that befuddle us, and why mocking them, or ignoring them, is not an option

I submit the following to GuelphToday for this weeks column knowing that Im about to nuke my email from orbit. It had a good run.

So lets talk about whats going on in Ottawa right this moment (at noon on Saturday), and what happened here in Guelph last weekend.

Though theres a difference in scale, the intention and desire of the ones organizing these two gatherings are more or less the same, but while the so-called 'Freedom Convoy' has gotten a lot of attention, whats happened in Guelph with these anti-mandate groups has gotten practically none.

Last weekend, a couple of hundred people who dont consider themselves anti-mask or anti-vaccine walked though Old Quebec Street making noise while maskless to say theyre fed up with the pandemic and pandemic restrictions. Im glad were finally doing this, one woman said. Another man asked the stunned people looking on in Old Quebec Street to take off their masks and show off their smiles.

If I were to have stopped and asked those people what they just saw, they would probably be hard pressed to explain it to me. A lot of those people were too young to remember the 'freak outs'of the 1960s, and the one security guard I saw arrived on the scene several minutes late. It was over and done in less than eight minutes.

Consider what happened last Saturday as an experiment. It was an experiment for those participating to see how far they can push things, and it was an experiment for our city leadership: Can they ignore whats almost literally happening under their nose?

I know 90 per cent of the eligible population is fully vaccinated, but this is not just a matter of being vaccinated because Ive been told by a few of the people participating in these rallies that theyve gotten two jabs. Its also worth noting that over 80 per cent of Canadian truckers are fully vaccinated, but look at the attention wrought by the other 20.

To understand the inherent danger, you have to understand how people are indoctrinated. To use the word feels disturbing, but there is a continuum of information, or misinformation, that people go down and it starts with the simplest of ideas, an idea that youve already thought about in the course of the last 22 months: Arent you sick of this?

I talked to one man a few weeks ago who told me that he wont get vaccinated because he doesnt trust the government and he doesnt trust big pharma. Hey, fair enough. My sense is that a majority of Canadians, if asked, will enunciate some level of mistrust in most institutions, from the Government of Canada to the Loyal Order of Water Buffaloes. But this is how it begins.

The seeds of doubt, perhaps long sowed in the person, are then fertilized with a rapidly changing information landscape. With COVID-19 weve seen the scientific process happen in real time, and the best advice of March 2020 (disinfecting your groceries anyone?) has now been proven by researchers as pointless and ineffective in stopping the spread.

So now you dont know what to believe. Its possible you might have once trusted your family doctor, if you have a family doctor, but he or she is saying all the things you hear from the three levels of government and the World Health Organization. If you cant trust them, how can you trust your doctor? Are they in on it (whatever it is)?

Youre told to wear a mask, but some people you know on Facebook say that they dont work. Youre told to get a vaccine, but then youre told some vaccines have side effects, and those same online friends are now telling you that the other vaccines are bad, or that theyre gene therapy to change your DNA(theyre not).

And now you see the real plot and intentions. COVID-19, whether its real or fake, is a means to an end. That end could be Agenda 2021, or Agenda 2030, or the Great Reset, or some other international conspiracy to grind people under foot or de-populate the planet. All of this sounds crazy, but its also the best case scenario.

Whats more disturbing are the white supremacists and far-right figures who understand well how indoctrination works and have attached themselves to the anti-mandate movements, like the trucker convoy, to find new blood. The frightening thing is that the ones being recruited dont know or dont care that their perversion is happening, theyre just happy to have friends who believe as they believe.

And thats why we need to take these things seriously, the trucker rallies and the freak outs through local malls. To stand back and watch without saying anything is a kind of dereliction. To stand there and laugh, or to call those people names, is even worse.

Were rapidly approaching the second anniversary of the first lockdown because of COVID, and our public health leaders have started to pivot to the idea that COVID is something we must start learning to live with. Meanwhile, the pandemic of radicalization is just beginning, and living with it, like ignoring it, is not an option.

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The pandemic of radicalization has begun, and we can't ignore it - GuelphToday

Vertex finished out 2021 strong, smashing analysts sales expectations for the full year. Chalk it up to the companys entrenched position in cystic fibrosis, where Vertex expects to maintain its lead for years to come, according to CEO Reshma Kewalramani, M.D.

Vertex snared $7.57 billion in product revenues for 2021, signaling a 22% increase year over year. For 2022, the company expects to pull in sales of $8.4 billion to $8.6 billion. For now, that growth is firmly tethered to Vertexs bread-and-butter CF franchises.

The companys 2022 guidance suggests penetration of additional CF patients will occur more rapidly than expected with age expansion and full-year impact of ex-U.S. reimbursements, RBC Capital Markets Brian Abrahams wrote in a note to clients Wednesday.

During its call Wednesday, Vertex repeated estimates that there are more than 25,000 patients who could benefit from CF newcomer Trikafta and arent yet on therapy. The company splits those patients into three groups: those whove yet to start on Trikafta in countries where the drug was recently reimbursed, patients in territories where the drug hasnt been reimbursed and younger patients, who Vertex aims to address with future Trikafta label expansions.

RELATED:JPM 2022: Vertex's Trikafta holds the line as company lays groundwork for gene editing launch

Meanwhile, the $8.4 billion to $8.6 billion range Vertex laid out seems notoriously conservative, Evercore ISIs Liisa Bayko wrote in a note to clients. [W]e expect VRTX to beat and raise throughout the year, she added.

Trikafta, for its part, carried the bulk of the sales weight last year, bringing in $1.69 billion for the last three months of 2021. The drug made about $1.09 billion during that same period in 2020. Trikafta reaped full-year 2022 sales of $5.69 billion, marking a blockbuster-worthy increase over the $3.86 billion it made in 2020.

Older CF med Kalydeco proved to be the companys next top sellerthough by a significantly smaller marginwith fourth quarter sales of $152 million. The drug made $684 million for the year. Orkambi made $147 million for the quarterslightly down from 2020s $215 millionand $772 for the year, while Symdeko pulled $80 million in the fourth quarter and $420 million for all of 2021.

Vertex is working to branch out from its CF base, and analysts seem to share the companys hopes for phase 1/2 Type 1 diabetes candidate, VX-880. That drug could potentially unlock a multibillion-dollar opportunity, which is comparable to CF and nearly all upside in our model, RBCs Abrahams said. CF forms the backbone of Vertexs pharma business, and investors have long pushed the company to diversify.

Vertex has also pinned its hopes on its gene editing program for sickle cell disease and beta thalassemia, CTX001, as its next commercial launch, Kewalramani said. The company sees tremendous potential for the treatment, and Vertex has already kicked off launch preparations ahead of planned global regulatory submissions toward the end of the year. The company is building out market access, patient support and its doctor-facing teams, as well as finalizing its manufacturing and supply chain network, the company said during its earnings call.

RELATED: Fierce Biotech's top 10 data readouts in 2022 | CRISPR Therapeutics and Vertex's CTX001amyotrophic lateral sclerosis

Still, when it comes to CF, Vertex is confident it can maintain its place at the head of the table, Kewalramani said.

More patients around the globe are treated with a Vertex CFTR modulator today than ever before, and the vast majority of that is with Trikafta, which boasts remarkable clinical trial data, the CEO said. If theres any medicine that will compete with Trikafta, it has to go head-to-head against Trikafta in clinical trials.

It has to have improved benefit, and you have to have the long-term data, she added.

The only company that has that right now is Vertex, and the most advanced competitor to Trikafta is the companys own triple combo of tezecaftor and the experimental VX-121 and VX-561, which is in phase 3 testing.

Kewalramani highlighted recent real-world Trikafta data, garnered from more than 16,000 U.S. patients, which showed the drug led to an 87% reduction in risks of lung transplant, 77% fewer pulmonary exacerbations and a 74% reduction in risk of death.

That said, the company is on the cusp of a critical external event that should settle the viability of VRTXs dominance in CF that is ABBVs triplet data, Evercores Bayko said. Consensus opinion is pointing toward lackluster data from AbbVie, but, It would be an unwelcomed surprise if the data were comparable to Trikafta, the analyst added.

AbbVie's combo, which isin phase 2 testing, comes from the company's purchase ofGalapagos' CF pipeline for$45 million in late 2018.

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What competition? Vertex touts Trikafta's competitive edge on back of strong 2021 - FiercePharma

Matthew Hepburn, MD, Senior Advisor to the Director, Pandemic Prevention, U.S. Office of Science and Technology Policy (OSTP), Executive Office of the President

NORTH BETHESDA, Md. (PRWEB) January 27, 2022

The International Society for Pharmaceutical Engineering (ISPE) announced Matthew Hepburn, MD, Senior Advisor to the Director, Pandemic Prevention, U.S. Office of Science and Technology Policy (OSTP), Executive Office of the President, as a confirmed keynote for the 2022 ISPE Facilities of the Future Conference, taking place on 12 February in North Bethesda, Maryland and virtually.

The opening keynote session COVID's Impact on Pharma Facilities of the Future will take a high-level look ahead at global pharmaceutical manufacturing and related regulatory systems. Hepburn will discuss Lessons Learned from Operation Warp Speed for Rapid Vaccine Development at the opening plenary session and the executive forum dinner.

The mission of OSTP is to maximize the benefits of science and technology to advance health, prosperity, security, environmental quality, and justice for all Americans. At the OSTP, Hepburn works on preparing the country for future pandemics, with a spotlight on the acceleration of vaccines, therapies, and test development.

Previously, Hepburn was the Director of Vaccine Development at Countermeasures Acceleration Group, formerly known as Operation Warp Speed, which is an effort between the Defense Department and the Department of Health and Human Services. During the Obama administration, he was the Director of Medical Preparedness for the White House National Security Council. Additionally, he served as an infectious disease doctor for the U.S. Army for over two decades.

Representatives from Bristol-Myers Squibb, CRB, and Merck will round out a compelling line-up of expert speakers at the opening plenary session.

Featuring technical presentations from regulatory authorities and industry leaders already planning and building facilities of the future, the 2022 ISPE Facilities of the Future Conference will explore topics such as patient-specific cell and gene therapy facilities, new developments in the use of artificial intelligence, innovations in treatment and the transforming technologies that produce them, and moving forward from the COVID-19 era.

To ensure this experience is accessible to all, this conference will be in North Bethesda, Maryland, with virtual componentsdelivering thought-provoking learning and global networking opportunities whether attendees choose to join us in-person or virtually.

Explore the agenda and register at ISPE.org/FOF22.

About ISPEThe International Society for Pharmaceutical Engineering (ISPE) is a not-for-profit association serving its Members through leading scientific, technical, and regulatory advancement across the entire pharmaceutical lifecycle. The 18,000 Members of ISPE are building solutions in the development and manufacture of safe, effective pharmaceutical and biologic medicines, and medical delivery devices in more than 90 countries around the world. Founded in 1980, ISPE has its worldwide headquarters and training center in North Bethesda, Maryland, USA, and its operations center in Tampa, Florida, USA. Visit ISPE.org for more information.

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US Office of Science and Technology Senior Advisor to Deliver Keynote Address at the 2022 ISPE Facilities of the Future Conference - PR Web

When Misty Lovelace was a baby, her eyes were drawn to the light.

She could not focus on faces, only sources of light. Her grandmother Cynthia Lovelace, who would become her main caretaker, suspected vision problems.

By age three, Misty was diagnosed as legally blind. School systems struggled with how to handle her. She was intelligent and intuitive, but people would treat her as if she had a learning disability.

As she got older, Misty started carrying a lamp with her at school. She would put her lunch under it to see what she was about to eat. She learned Braille and used a cane to navigate. When she visited the doctor for checkups, her prognosis seemed to get worse.

"[The doctor] would take her little face and he'd put his hands on her face and say, 'Misty, I'm so sorry, there's nothing more we can do for you, honey. You're going to wake up in the dark one day,'" Lovelace recalled.

"It'd be like looking through a tunnel. And all of a sudden that tunnel goes out."

Misty has Leber congenital amaurosis, or LCA, a genetic disorder that often manifests at a young age, causing vision loss. In Misty's case, and for approximately 1,000 to 2,000 other people in the U.S., the disease is caused by mutations in a gene called RPE65.

Misty Lovelace, age 4

Courtesy of Misty Lovelace

What Misty didn't know as her vision got darker was that a scientist and doctor duo at the Children's Hospital of Philadelphia had already spent years working on a gene therapy for her disease.

The gene therapy, which would eventually become known as Luxturna, was not an overnight success. Decades of research and setbacks preceded the landmark U.S. approval of Luxturna four years ago, the first the Food and Drug Administration had ever granted to a gene therapy for an inherited disease. While Luxturna is not a cure for blindness, treatment has brought sustained improvements in sight, particularly in lower light, for several patients who spoke with BioPharma Dive. As a result, they've needed less help in educational and social environments, and have more independence.

Their experience with Luxturna is proof of gene therapy's potential as well as its limitations. As the first gene therapy of its kind, Luxturna also holds lessons for a field that's grown dramatically since its December 2017 approval.

Lovelace said she never stopped trying to find a way for Misty to regain her sight. The possibility gave her hope as she watched her granddaughter adjust to a life that, for her, was almost in total darkness.

A call from Jean Bennett was a lifeline.

Bennett and her husband, Albert Maguire, met at Harvard Medical School in the early 1980s. The two began researching gene therapy together, attempting to treat blindness in mice. Soon they were testing their approach on Briard dogs with the same defective RPE65 gene that causes LCA in humans.

By 2007, their gene therapy was ready to be tested in people a high-stakes proposition for a field that had largely been shut down nearly a decade before. After 18-year-old Jesse Gelsinger died during a 1999 gene therapy study, many questioned whether such research was safe. The success Bennett and Maguire had with Luxturna was a large part of gene therapy's journey back to the forefront of biomedical research, aided by improvements in how such treatments are designed and delivered.

Testing began at the Children's Hospital of Philadelphia, where Misty was recruited as a study participant. At age 12, she took her first flight out of Kentucky and received the gene therapy in both eyes, starting with the one with worse vision.

"We didn't know if I was going to get worse, stay the same or get better," she said. "But in my mind, I was going to be completely blind by 18, so what's knocking a couple years off?"

The improvements were almost immediate, however. Lovelace recalls her granddaughter commenting on her wrinkles as soon as the eye patches from the procedure were removed. Misty could make out the fine hairs on the manes of horses, her favorite animal and hobby. Rainbows and stars, though, she found underwhelming.

More than eight years later, Misty says she's grateful she "took the leap," attributing to Luxturna her independence and ability to pursue a career as a horse trainer.

Misty Lovelace

Courtesy of Misty Lovelace

Results from early participants like Misty led to the formation of Spark Therapeutics and a larger clinical trial in Pennsylvania and at the University of Iowa that gave the biotech company the evidence needed to approach the FDA.

On Oct. 12, 2017, a panel of scientists and FDA advisers unanimously endorsed the gene therapy, with Misty one of several individuals who shared their stories. The FDA followed with an approval on Dec. 18, a gene therapy milestone.

"For many of us, this is exactly the type of disease that we hoped that gene therapy would someday treat," Wilson Bryan, director of an FDA office tasked with reviewing Luxturna, said at the time. The next year, Luxturna was also approved in Europe.

It's unclear how many people have received Luxturna since. A Spark spokesperson told BioPharma Dive the company does not disclose that information. In 2019, the company told the Philadelphia Business Journal it had shipped 75 vials of the gene therapy in its first year post-approval. (One vial is used per eye.)

Spark is now owned by the Swiss pharmaceutical company Roche, which does not disclose sales of Luxturna. In February, however, Roche reduced the accounting value of Luxturna, citing "reduced sales expectations."

Luxturna consists of one hundred and fifty billion copies of the corrected RPE65 gene encoded into modified viruses, which are delivered into the eye via about 0.3 milliliters of liquid. Those few drops are injected underneath the retina and, over the course of a week, the viral particles shuttle the functional gene into the patient's eye cells. Once inside, the gene instructs the cells to produce a protein that's otherwise missing, helping restore visual function.

Vials of Luxturna

Spark Therapeutics

"This is not a cure," said Jason Comander, a physician at Massachusetts Eye and Ear in Boston who has administered Luxturna. "It will not make your vision normal," he added, "and there's a small chance that it could hurt your vision." Comander consults with other drugmakers and in 2019 received a nominal amount from Spark.

Luxturna also benefits each patient differently. Comander said the vast majority gain some night vision, while others report improvements in central or side vision. Some see more substantial improvements one of his patients was able to see in up to one thousand times dimmer light than in pre-surgery exams. Many have been able to walk without canes and read without using Braille after surgery.

Their vision isn't perfect, however. Some recipients, Misty included, are still considered legally blind and unable to drive. How long the benefit of gene therapy treatment will last is still unclear, though a recent study co-authored by Maguire and Bennett indicated "improvements were maintained up to 3 to 4 years" after Luxturna.

Comander, who was in his residency while Luxturna was tested, said seeing Maguire administer the therapy affirmed his decision to go into the practice. Now, Comander has done close to a dozen surgeries; his youngest patient was 4 years old at the time of treatment and his oldest was in their 30s. While younger patients saw greater improvements, each patient's eyes functioned better in lower light following treatment.

For Comander, Luxturna was an inspiration, one that he said has helped fuel greater interest in gene therapy. "Many careers have been dedicated to expanding on the success of Luxturna, and it's made a huge difference in the field," he said.

Since Luxturna's clearance, Novartis won FDA approval in May 2019 for a spinal muscular atrophy treatment known as Zolgensma, making it the second gene therapy for an inherited disease available in the U.S. A handful of other gene therapies are in late-stage testing and, behind them, are an expanding pipeline of experimental medicines for a constellation of genetic conditions. In 2020 alone, the FDA received more than 230 applications from cell and gene therapy developers to begin clinical trials, the head of the agency's biologic drugs division said earlier this year.

Gordon "Creed" Pettit was one of the kids who couldn't get into clinical trials for Luxturna. His mother, Sarah St. Pierre-Pettit, brought him from Florida to the University of Iowa a number of times. But he couldn't get through the tests needed to qualify him for treatment.

From there, it was a waiting game until Luxturna's approval. Soon after the FDA's decision, Pierre-Pettit brought Creed to Audina Berrocal at the Bascom Palmer Eye Institute in Miami.

Gordon "Creed" Pettit and Audina Berrocal, the surgeon who administered Luxturna to him.

Photo courtesy of Sarah Pierre-Pettit

Creed was Berrocal's first Luxturna patient. As a pediatric retina specialist, Berrocal said Spark sought her out in the fall of 2017. To date, she's performed a dozen surgeries, all of which have yielded positive results.

"Of all the things I've done in my career, this has been the most amazing and the most rewarding in the sense that we are changing the genetics, the DNA of a person, and we're allowing them to do things that before they couldn't do," Berrocal said. Berrocal consults with other drugmakers and has contributed to published research on Luxturna. In 2018 and 2019, she received nominal payments from Spark.

But treatment, even when positive, can come with adjustments, too. In Creed's case, he was overwhelmed by the sudden change, at first telling his mother he wished he had his old eyes back.

With time, however, Creed has started challenging himself more. "I think most of the gains were at the beginning," Pierre-Pettit said. "Whatever Luxturna did is done. But now that he finally feels confident with himself, he's putting Luxturna to the test now."

For Creed, that means being more social and inquisitive about the world around him. Now 12 years old, he hasn't mentioned wanting his old eyes back for years.

"It's still almost like a new kid every day, like a new baby that sees something new," his mother said.

From a young age, Luke Ward told his mother, Stephanie Joachim, about his dream of playing soccer. But the sport as well as many other daily tasks seemed out of reach.

His vision problems were apparent from birth. While his twin sister could track people with her eyes, Luke stared only at sources of light. When he started walking, he needed to put his hands out to stop himself from running into walls.

Genetic testing revealed Luke had LCA. His doctor said he'd be legally blind by kindergarten. Around the same time, Joachim read an article about Luxturna, but was too late to get Luke enrolled in clinical testing. By the time the FDA approved the therapy, the family had already decided that Luke was getting Luxturna.

Luke Ward with his twin sister, Leia.

Courtesy of Stephanie Joachim

But Joachim was anxious after learning Luxturna's price tag of $425,000 per eye. "I was just flabbergasted and I was like, 'You know what, it's fine. We have the best health insurance,'" she said.

To the family's disappointment, and as other Luxturna patients have experienced, insurance denied the request and cited the therapy's then "newness" as a reason.

At some point in the process, however, Luke's file crossed the desk of an anonymous person who was "so moved from Luke's story and from Luke's pictures, he volunteered to pay for Luke's surgery," Joachim said.

Luxturna's cost was criticized when the therapy was approved and has remained an issue within the patient community since. Shortly after the FDA gave its OK, Spark announced a program with health insurer Harvard Pilgrim and affiliates of Express Scripts, through which the company agreed to pay rebates if the drug doesn't help patients meet certain thresholds.

In a statement to BioPharma Dive, Spark said it offers a "range of patient services and payment models to help navigate and support access" to Luxturna, but did not respond to questions on the number of times rebates have been paid.

Luke Ward

Courtesy of Stephanie Joachim

"Parents shouldn't be paying for this out of pocket," Berrocal, who was also Luke's surgeon, said.

Berrocal told Luke he's the "poster child for Luxturna," Joachim said. He can play sports with his twin sister, including soccer and tee-ball. He started kindergarten this year and has no issues seeing the whiteboard. He still has visual impairments, though, including his peripheral vision. His mother says they keep their shoes tucked out of the way in the house to prevent Luke from tripping.

Four years after its approval, Luxturna continues to be sought out by patients. Joachim says she's received messages from people in Spain, South Africa and the U.K. inquiring about Luke and his progress.

And as Luxturna keeps working, other drugmakers hope to replicate its success. The eye, in particular, is the focus of many gene therapy developers, as it's easy to access and targeting it doesn't carry as many safety risks as other organs. Novartis, which sells Luxturna in Europe, AbbVie, Biogen and Johnson & Johnson are all exploring gene therapies for the eye.

Research into gene editing is advancing as well. In September, Editas Medicine shared preliminary results from the first trial testing a CRISPR gene editing treatment that does its work inside the body. Treatment appeared safe, although the efficacy results were mixed, with several patients experiencing little improvement in vision. The treatment uses CRISPR editing to restore the function of eye cells in people with another form of LCA known as type 10.

Berrocal believes Luxturna represents the beginning of what genetic medicine can offer to patients with many inherited diseases, not only those of the eye.

"20 years from now, we could look back and say, 'Oh my god, that was so rudimentary. Look how much you have advanced,'" she said. "But we have to start somewhere, right? And in 2021, this is what we have, and it's working."

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Years later, a first-of-its-kind treatment shows the power, and limits, of gene therapy - BioPharma Dive

A lengthy video posted on TikTok that makes a host of unfounded claims about COVID-19 vaccines all of which have been repeatedly debunked originated with InfoWars, a website renowned for sowing conspiracy theories.

The viral video claims that COVID-19 vaccines "failed miserably" in animal trials and are "a type of gene therapy that several top scientists warn will kill you." It includes hashtags like #truthcomesout and #firefauci.

The video appeared on Facebook, where it was flagged as part of Facebooks efforts to combat false news and misinformation on its News Feed. (Read more about our partnership with Facebook.)

COVID-19 vaccines did not fail in animal trials or result in the death of the animals tested. The vaccines are not a form of gene therapy, which modifies a persons genes to replace or fix mutations that lead to diseases. The scientists cited in the video have spread misinformation about the vaccines.

The footage is an excerpt from a longer video posted online Oct. 13 called "Kill Shot," by Greg Reese, an editor and producer for the website InfoWars, which has spread other vaccine misinformation. Most recently, InfoWars was in the news because its founder and host, Alex Jones, was found liable for defamation against the families of victims from the 2012 Sandy Hook Elementary School shooting, which Jones has portrayed as a hoax.

In the TikTok video, a narrator says that 22 months into the COVID-19 pandemic, "We have all the information needed to paint a clear picture of whats going on." The narrator then recites a laundry list of false claims about Dr. Anthony Fauci, PCR tests, the ingredients of vaccines and more.

The narrator says, "The COVID vaccines are not vaccines but rather highly controversial mRNA tech that failed miserably on its animal trials, a type of gene therapy that several top scientists warn will kill you," a statement that contains multiple falsehoods.

First, COVID-19 vaccines did not fail animal trials. Fact checkers have debunked this claim, noting that the two vaccines most widely used in the U.S. Pfizer and Moderna produced desirable outcomes in animal testing. Results from Modernas animal testing were published in the New England Journal of Medicine after monkeys had a robust immune response to the vaccine.

Animals also did not die during the vaccine trials. Full Fact reported that had any animals died, human trials that were running concurrently would have been halted, which they were not.

Next, COVID-19 vaccines are not a type of gene therapy; PolitiFact and others have reported that the claim is false. Gene therapy is a process of modifying genes to replace or fix mutations that lead to diseases, according to PolitiFact.

Thats different from mRNA vaccines, which send instructions to the bodys cells to make a piece of spike protein, which is also found on the surface of the virus that causes COVID-19, so that the immune system can respond to it.

Finally, the videos narrator says "several top scientists warn" that the COVID-19 vaccines "will kill you," and names Dr. Ryan Cole and Dr. Nathan Thompson. Cole, who is licensed to practice medicine in several states and is under investigation by the Washington Medical Commission, falsely claimed in the spring that mRNA vaccines cause cancer and autoimmune diseases. He was rebuked by the author of the medical paper he cited as evidence for the claim.

The other doctor identified, Thompson, has claimed that COVID-19 vaccines weaken the immune system, which PolitiFact rated False.

Our ruling

A TikTok video posted on Facebook says COVID-19 vaccines "failed miserably" in animal trials and are "a type of gene therapy that several top scientists warn will kill you." The video originated on InfoWars, known for spreading conspiracy theories.

The vaccines did not fail in animal trials or result in the death of the animals tested.

COVID-19 vaccines are not a type of gene therapy, which involves modifying genes to replace or fix mutations that lead to diseases. The mRNA vaccines do not change a persons genetic makeup and never enter the part of the cell that hosts DNA.

The scientists cited in the video have spread misinformation about the vaccines.

We rate this claim False.

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A video that originated on InfoWars is filled with falsehoods about COVID-19 vaccines - PolitiFact

PARIS, Nov. 15, 2021 /PRNewswire/ --Coave Therapeutics ('Coave'), a clinical-stage biotechnology company focused on developing life-changing gene therapies in rare Ocular and CNS (Central Nervous System) diseases, today announced that it has strengthened its leadership team with the appointments of Thomas Blaettler MD, as Chief Medical Officer, and Patricia Franon PhD, to the newly created position of Chief Operating Officer.

"I am very pleased to welcome Thomas and Patricia to the leadership team at Coave. Their collective accomplishments and deep domain expertisein neuroscience, cell and gene therapy, in addition to their extensive clinical drug development and project management experience will be invaluable as we progress our lead candidate through clinical development and advance our pipeline of novel gene therapies into clinical development targeting rare Ocular and CNS diseases," said Rodolphe Clerval, CEO.

Thomas Blaettler, MD

Dr Blaettler is an expert in the neuroscience therapy area, having over 25 years' experience in the field, both in clinical residency and industry. Thomas joins Coave from Orphazyme A/Swhere, since 2016, he served as Chief Medical Officer and was responsible for devising the clinical development strategy and progressing the company's rare neurodegenerative pipeline. In addition to championing the clinical and regulatory strategy, Thomas has contributed to Orphazyme's IPO on both the Copenhagen and Nasdaq stock exchanges. Prior to Orphazyme, Thomas held global leadership roles within the clinical neuroscience divisions at both Roche and Bristol Myers Squibb, with a further neuroscience translational medicine role at Novartis.

"I am delighted to be joining Coave at such an exciting stage of development," said Dr Blaettler. "I look forward to progressing CTx-PDE6b through the clinic, and to contributing to the advancement of the company's pipeline of next-generation gene therapies, which have the potential to deliver life changing outcomes for rare disease patients."

Thomas completed his Doctor of Medicine at the University of Zurich in 1994 and went on to complete almost 10 years of clinical residency and research in the neurology field. Thomas gained board certification from the Swiss Society of Neurology in 2003.

Patricia Franon PhD

Dr Franon is an experienced biotech professional with over 20 years' experience leading global CMC and regulatory strategies for the accelerated development of innovative biologics, advanced cell & gene therapies. Patricia joins Coave from Skinosive where she served as Chief Operating/Technology Officer, managing operational aspects of the business, proactively driving the company towards achieving its development goals. Patricia has also held various clinical development roles at Sartorius, Neuro-Sys, Enterome, Evry, Cellectis, Anaconda Pharma and Sanofi, managing all aspects of product development, coordinating multiple studies, selecting partners and managing regulatory processes.

"Coave's ALIGATER technology is truly innovative and demonstrates an important ability to provide gene therapies with increased tissue targeting and transduction, designed to enhance their potency and efficacy," added Dr Franon. "I look forward to working with Rodolphe and the team to drive the company forward on its mission of improving the effectiveness of advanced gene therapies for rare diseases."

Patricia obtained her PhD in Molecular and Cellular Biology from Paris VI University and completed postdoctoral research at McGill University.

About Coave Therapeutics

Coave Therapeutics is a clinical-stage biotechnology company focused on developing life-changing gene therapies in rare ocular and CNS (Central Nervous System) diseases.

Coave Therapeutics' next-generation AAV-Ligand Conjugate ('ALIGATER') platform enables targeted delivery and enhanced gene transduction to improve the effectiveness of advanced gene therapies for rare diseases.

The Company is advancing a pipeline of novel therapies targeting rare ocular and brain diseases where targeted gene therapy using AAV-Ligand has the potential to be most effective.

Coave Therapeutics, which is headquartered in Paris (France), is backed by leading international life science and strategic investors Seroba Life Sciences, Tha Open Innovation, eureKARE, Fund+, Omnes Capital, V-Bio Ventures, Kurma Partners, Idinvest, GO Capital, Sham Innovation Sant/Turenne.

For more information, please visit http://www.coavetx.com or follow us on LinkedIn http://www.linkedin.com/company/coavetx/

CONTACTS

Coave Therapeutics Rodolphe Clerval, CEO [emailprotected]

MEDiSTRAVA ConsultingSylvie Berrebi, Eleanor Perkin, Mark Swallow PhD[emailprotected] Tel: +44 (0)7714 306525

SOURCE Coave Therapeutics

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Coave Therapeutics Strengthens Leadership Team with the Appointments of Thomas Blaettler MD as Chief Medical Officer and Patricia Franon PhD as Chief...

COVID-19 has been all-consuming. For nearly two years, the world has been focused on the race for vaccines, the pressures on providers, the best testing protocols, and simply staying safe.

COVID-19 also slowed some research efforts, but scientists still managed to seek solutions for many other pressing concerns Alzheimers disease, maternal mortality, and prostate cancer among them that have bedeviled patients for decades.

Below are eight medical advances that may not have grabbed your attention but could ultimately improve the lives of millions.

Assessing a stroke demands a rapid, life-or-death assessment: Is the culprit a clot, which requires a blood thinner, or bleeding in the brain, which requires surgery? Now, a portable MRI device can help make that assessment right at a patients bedside and in much less time than required by a trip to a standard machine.

The Swoop MRI which was created with input from Yale Medicine in New Haven, Connecticut received Food and Drug Administration (FDA) approval in August 2020 and is already at work in several U.S. hospitals.

The new portable machine offers many advantages over its massive cousin, says Yale neurologist Kevin Sheth, MD.

The very strong magnets in regular MRIs bring a lot of challenges, he explains. You need intensive power and cooling, precautions like a shielded room, and a lot of training. If you use a weaker magnet, all those problems go away.

The weaker magnet is effective, according to an August 2021 study, which asked clinicians to identify various cerebral pathologies using Swoop images. The goal is not to be as good as a high-magnet MRI, but to be good enough for clinical decisions, says Sheth, who co-authored the study but has no financial interest in Hyperfine, the Connecticut-based company that produces the machine.

Swoops size its smaller than some refrigerators eliminates the need to move frail patients down hospital hallways. Whats more, its cost around $100,000 compared to $1 million for the bigger machine puts it within reach of hospitals and regions with fewer resources. This could essentially democratize brain imaging, argues Sheth.

Prostate cancer strikes 1 out of 8 U.S. men, and it is expected to take more than 34,000 lives this year alone. When it metastasizes, the disease is almost always incurable, leaving physicians focused only on postponing death and improving patients lives.

A promising new approach has succeeded at both goals and did so among men with an advanced form of the disease whose condition had deteriorated despite receiving standard treatments.

In fact, it more than doubled how long patients lived without their cancer worsening, according to a paper published in September. The study, which followed 831 men in 10 countries for a median of 20 months, compared patients who continued to receive standard care with ones who got the new treatment.

The treatments name is complex: lutetium-177-PSMA-617. But its approach is straightforward: Drive radiation directly into a cancer cell while sparing healthy tissue around it.

The method uses a compound called PSMA-617 to hone in on a protein found almost exclusively in prostate cancer cells, explains Oliver Sartor, MD, study co-lead investigator and medical director of Tulane Cancer Center in New Orleans. Then, a radioactive particle carried by the compound blasts the cancer cells, wherever they are.

Its like a little smart bomb, says Sartor.

In September, the FDA granted the treatment priority review status, according to drug manufacturer Novartis, which funded the study. An answer is expected in the first half of 2022.

Sartor feels hopeful. Ive been working in prostate cancer for more than 30 years, and this is the largest advance Ive ever been associated with.

For more than 5,000 years, sickle cell disease (SCD) has caused untold suffering in people of African descent. In patients with the genetic illness, red blood cells are not round but crescent-shaped like a sickle and can clog blood vessels, depriving the body of oxygen and causing tremendous pain. For a long time, the only cure has been a bone marrow transplant, but new gene-editing techniques now may offer a safe and effective alternative.

In research conducted at Boston Childrens Hospital, scientists used a virus to switch off the gene that triggers cells sickling, according to a January 2021 study. The patients subsequently produced healthy red blood cells and nearly all were able to discontinue the blood transfusions SCD often requires.

One participant used to have transfusions every month but has not needed any in three years, says David Williams, MD, chief of the Division of Hematology/Oncology at Boston Childrens and head of the research team. This has completely changed his life.

The study followed six patients for a median of 18 months and found that the treatment completely halted the diseases more severe symptoms.

Im so happy for my sickle-cell patients. This is a terrible disease, notes Williams.

Next up for Williams is a trial with 25 patients. Meanwhile, SCD researchers elsewhere are studying other gene-editing techniques. All these approaches look promising, and we need a lot more research to determine if one or another is better, Williams says.

This is a very exciting time. In the past, we havent had any particularly good treatments, and now we have several possibilities," he adds.

When a womans uterus fails to contract after childbirth, tremendous blood loss can ensue, possibly leading to an emergency hysterectomy or even death. In fact, postpartum hemorrhage affects 3% to 10% of all childbirths in the United States and causes more than one-third of childbirth-related maternal deaths worldwide.

Treatment options include medications that dont always work and inserting a balloon to put pressure on the uterus much like exerting pressure on a cut that comes with risks and must remain in place for a day.

But providers now have another option.

A new vacuum device aids natural post-birth contractions, putting pressure on leaking blood vessels. The FDA approved the device the Jada vacuum uterine tamponade in September 2020 following a 12-site research study.

The vacuum approach is very logical since its like what the body is supposed to do, says Dena Goffman, MD, the primary investigator at Columbia University Irving Medical Center in Manhattan. Also, the vacuum is used for less time than the balloon roughly two or three hours. For moms, thats a big deal because it makes it easier to breastfeed, get out of bed, and bond with their child, she adds.

The vacuum controlled bleeding in a median of three minutes and successfully treated 94% of participants, according to the study, which was funded by the devices manufacturer, Alydia Health. In comparison, other research puts the balloons effectiveness at 87%.

When a patient has a postpartum hemorrhage and youre the doctor at the bedside, its scary because you know how quickly things can deteriorate, says Goffman. Using this device, when you see the bleeding slowing quickly and you can feel the uterus contracting, its just incredible.

Tearing an anterior cruciate ligament (ACL) the flexible band inside the knee that helps stabilize it can upend a sports career and sideline weekend athletes. Between 100,000 and 200,000 ACL tears occur each year in the United States.

The most effective repair option has been removing the ruptured ACL, harvesting a graft from the shin or elsewhere, sewing that tissue into the knee, and hoping both surgical sites heal well.

In December 2020, the FDA approved a simpler, more natural method: the Bridge-Enhanced ACL Restoration (BEAR).

We basically stimulate the ACL to heal itself, says Martha Murray, MD, orthopedic surgeon-in-chief at Boston Childrens Hospital and BEARs creator.

The approach involves placing a protein-based sponge, prepared with some of the patients own blood, between the torn ACL ends. Murray explains that the blood promotes the connection of the two ACL pieces to the sponge and, ultimately, to each other.

So far, the approach has been tested on more than 100 patients. In a May 2020 study, patients and physicians reported that BEAR performed as well as the standard repair and without the graft surgery that can cause ongoing pain or weakness at the donor site. Miach Orthopaedics, which has the worldwide exclusive license for the BEAR implant, has already begun making it available through orthopedic surgeons in the United States.

For Murray, the experience has highlighted the value of serving as a physician-researcher. When youre faced with a patient with a problem and the current solution is imperfect, its great to be able to say, Were working on a better solution. Its incredibly gratifying.

For the first time since 2014, a new obesity medication has hit the market, offering hope to the 78 million Americans who face the many risks of excess weight: cancer, heart disease, diabetes, and complications from COVID-19, among others.

And the new medication semaglutide, also known as Wegovy is significantly more powerful than its predecessors, according to research that helped it garner approval from the FDA in June.

Weve seen 1 to 2 times the amount of weight loss compared to other medications, says Robert Kushner, MD, a researcher at Northwestern University Feinberg School of Medicine who has led semaglutide studies. That's a leapfrog advance.

In fact, semaglutide recipients lost nearly 15% of their body weight on average compared with 2.4% among controls, according to one study of nearly 2,000 patients.

Semaglutide an injectable medication is not entirely new. A synthetic version of a natural hormone that quells appetite, its already used to treat Type 2 diabetes. But the obesity trials, paid for by pharmaceutical company Novo Nordisk, used a much higher dose.

High doses havent been studied long enough to identify long-term side effects, notes Kushner, a paid consultant to Novo Nordisk. But the recent research reported mild-to-moderate gastrointestinal issues that lessened over time.

Now Kushner hopes semaglutide will help spark interest in obesity medications.

Over 40% of U.S. adults have obesity, and the number who are getting a pharmacologic treatment is under 3%, he says. Part of the challenge is educating primary care providers that providing evidence-based obesity care includes consideration of medication."

Randall Bateman, MD, a Washington University School of Medicine in St. Louis (WUSTL) neurologist, is thrilled to have contributed to the first blood test for Alzheimer's disease a devastating condition that affects as many as 5.8 million Americans.

Back in 2017, though, as Bateman geared up to share the discovery that would enable the test, he worried about his peers reaction. After all, scientists were convinced that the blood marker he studied couldnt predict the disease.

But the WUSTL method was much more sensitive and direct than prior approaches. The resultant test called PrecivityAD effectively detects the amyloid plaques that are a hallmark of Alzheimers disease and has proven as accurate as the previously used tools of a spinal tap or positron emission tomography (PET) scan, which are far more costly and complex.

The test, developed by a company called C2N Diagnostics that Bateman co-founded, has been available to physicians since October 2020, when it received approval through a federal lab certification program. It now awaits additional approval from the FDA.

Weve been hoping for a test to diagnose Alzheimers for more than 20 years, says Bateman, WUSTLs Charles F. and Joanne Knight distinguished professor of neurology. Currently, up to half of people with Alzheimers are misdiagnosed.

The road to success in science is paved with hard work and great uncertainty, he adds. Its a real gamble. Youre investing your life in this work, and you hope it will have a positive impact. And then its like, Wow, it worked!

Anger, fear, recurring nightmares, and intense flashbacks are among the many symptoms that can batter patients with post-traumatic stress disorder (PTSD). The condition, which affects about 15 million U.S. adults in a given year, can be extremely difficult to treat.

A potentially groundbreaking PTSD treatment now lies in a seemingly unlikely source: MDMA, better known as the illegal drugs ecstasy and molly that fueled all-night dance raves and caused potentially fatal side effects.

In June, a study in Nature Medicine reported that patients with severe PTSD combat veterans, first responders, and victims of sexual assault and mass shootings, among others experienced significant relief from MDMA.

In fact, two months after treatment, 67% of subjects who received MDMA together with talk therapy no longer qualified for a diagnosis of PTSD. I saw this amazing transformation in patients, says Jennifer Mitchell, PhD, the studys lead author and a University of California, San Francisco, School of Medicine neurology professor.

The treatment involved three eight-hour sessions a month apart during which patients ingested MDMA and processed painful memories and emotions in talk therapy.

MDMA releases a powerful supply of serotonin and stimulates hormones associated with emotional bonding, Mitchell explains. The idea is that it helps patients be open in a way that enables them to connect well with therapists and work through their problems more quickly.

Before the drug can receive FDA approval for PTSD, researchers need to complete one more clinical trial. Even if it succeeds, Mitchell is aware that MDMA still bears stigma from its party drug image.

I hope people are going to be open-minded and look at the data, which included no abuse potential or other serious side effects from MDMA as used in the study. We are talking about use in a controlled, therapeutic situation, she says. Using drugs recreationally is entirely different. Otherwise, people would come back from [the art and community event] Burning Man cured of their psychological issues.

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8 medical advances you may have missed during COVID-19 - AAMC

Dr. William N. Kelley, MACP, MACR, Professor of Medicine at the University of Pennsylvania, was recently chosen to be featured in the Top 50 Fearless Leaders Publication by the International Association of Top Professionals (IAOTP).

While being selected to be published in IAOTPs Top 50 Fearless Leaders Publication, is an honor in itself, only 50 of the worlds most brilliant, courageous, inspirational professionals are selected for this distinction.

These special honorees are hand selected to share their stories of perseverance, resilience, passion and strength. They have made outstanding contributions to society; they have impacted their industries and are respected in their trades. A chapter will be dedicated to each honoree and the book is anticipated to be released in the 4th quarter of 2021.

Dr. Kelley has exemplary brilliance in medical research and education. He has dedicated more than fifty years of his career as a Physician Scientist, Medical Doctor, and Educator. He will receive his IAOTP recognition from 2020 as Top Professor of the Year in Medicine at their Annual Awards Gala being held at the Plaza Hotel in NYC this December. Furthermore, Dr. Kelley will be inducted into IAOTPs exclusive Hall of Fame on stage at this ceremony.

Dr. Kelley earned his Doctor of Medicine at Emory University in Atlanta, GA, in 1963 and subsequently served an internship and residency in Medicine at the Parkland Memorial Hospital in Dallas, TX. He completed his senior residency in Medicine at Massachusetts General Hospital in Boston. Dr. Kelleys other titles have included Clinical Associate in Human Biochemical Genetics with the National Institutes of Health, Educator to Fellow of Medicine at Harvard University, and Macy Faculty scholar at the University of Oxford in England. Later in his career, he received an honorary Master of Arts from the University of Pennsylvania.

His impressive repertoire of roles has included Dean of the Perelman School of Medicine, CEO of the University of Pennsylvania Medical Center, and Founding CEO of the Penn Health System (now known as Penn Medicine). Prior appointments included Professor of Medicine, Associate Professor of Biochemistry, and Chief of Rheumatic and Genetic Diseases at Duke University, followed by Professor of Biological Chemistry and Internal Medicine, and Chair of Internal Medicine with the Medical School at the University of Michigan in Ann Arbor.

In the early 1990s at PENN, Dr. Kelley, in his role as Dean of the Medical School and CEO of the Health System (the combination now known as PENN Medicine), began to build a broad research program focused on the creation of gene-based medicine and vaccines as a new method for preventing and curing human disease. While the road was a rocky one over the last three decades, he is proud to note that PENN Medicine is now the global leader in this new field. This includes the two recently FDA approved mRNA vaccines (Moderna and Biontech/Pfizer) to prevent COVID-19 which came from the PENN Medicine research laboratories of Doctors Katalin Kariko and Drew Weissman. Dr. Kelley is noted for developing the first fully integrated university-based academic health system in the country at the University of Pennsylvania and expanding the Medical Centers regional footprint by acquiring hospitals and private practices, including Pennsylvania Hospital and Penn Presbyterian Medical Center.

Dr. Kelley was known for his breakthrough research and leadership of academic medical programs at Duke and the University of Michigan when he arrived at Penn. During Dr. Kelleys Tenure, the Perelman School became a research powerhouse moving the school into the top 3 rankings for NIH funding. There is now a Professorship named in his honor at the Perelman School of Medicine.

Throughout his illustrious career, Dr. Kelley has received many awards, accolades and has been recognized worldwide for his outstanding leadership and commitment to the profession. This year he will be considered for an exclusive interview on TIP Radio and for the 2022 Doctor of the Decade award. In 2018 he received the Albert Nelson Marquis Lifetime Achievement Award. In 2005, Dr. Kelley was presented with the Kober Medal by the Association of American Physicians and the Emory Medal in 2000 from his alma mater, Emory University. He was the recipient of the David E. Rogers Award from the Association of American Medical Colleges, the John Phillips Award of the American College of Physicians, the Gold Medal Award from the American College of Rheumatology, the Robert H. Williams Award from the Alliance for Academic Internal Medicine, and the National Medical Research Award from the National Health Council. Dr. Kelley has been featured in many magazines and publications, including Whos Who in America, Whos Who in Medicine and Healthcare, and Whos Who in the World.

In addition to his successful career, Dr. Kelley is a sought-after lecturer, speaker, and contributor to numerous professional journals and chapters to books. He was the co-inventor of a Viral-Mediated Gene Transfer System, now the most used method today for in vivo gene therapy. Dr. Kelley founded and edited numerous early editions of Kelley and Firesteins Textbook of Rheumatology and Kelleys Textbook of Internal Medicine. He was also editor-in-chief for Essentials of Internal Medicine and co-editor of Arthritis Surgery and Emerging Policies for Bio-Medical Research. Dr. Kelley has served on the Board of Directors for many public companies such as Beckman Coulter, Inc. and Merck & Co., Inc, and has been involved with many committees and subcommittees with the National Institutes of Health. He is a member of the National Academy of Medicine, The American Academy of Arts & Sciences, and the American Philosophical Society.

Looking back, Dr. Kelley attributes his success to his perseverance, his education, his mentors as well as outstanding students and trainees he has had along the way. When not working, he enjoys traveling and spending time with his family. For the future, he hopes that his contributions, including support for those many outstanding faculty he helped to succeed, will continue to improve human health worldwide.

For more information on Dr. Kelley please visit: http://www.iaotp.com

Watch his video: https://www.youtube.com/watch?v=6uhxBnYVY54

About IAOTP

The International Association of Top Professionals (IAOTP) is an international boutique networking organization that handpicks the worlds finest, most prestigious top professionals from different industries. These top professionals are given an opportunity to collaborate, share their ideas, be keynote speakers, and to help influence others in their fields. This organization is not a membership that anyone can join. You have to be asked by the President or be nominated by a distinguished honorary member after a brief interview.

IAOTPs experts have given thousands of top prestigious professionals around the world, the recognition and credibility that they deserve andhave helped in building their branding empires.IAOTP prides itself to bea one of a kind boutique networking organization that hand picks only the best of the best and creates a networking platform that connects and brings these top professionals to one place.

For More information on IAOTP please visit: http://www.iaotp.com

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Award Winning Dr. William Kelley selected to be featured in IAOTPs Top 50 Fearless Leaders Publication - PRUnderground

A mutation in the BRCA gene can exacerbate the risk of developing hereditary breast cancer

This rise in breast cancer all over the world can be attributed to lifestyle choices such as sedentary living, alcohol or tobacco abuse, stress, increased oestrogen exposure due to use of contraceptive pills, delayed child birth etc. On the other hand, genetics also play a significant role. For instance, a mutation in the BRCA gene can exacerbate the risk of developing hereditary breast and ovarian cancer. It's also reported that constant factors such as polluted air and water can be attributed to the rise of cancer in people.

Early detection is the key

Though extremely serious, it must be noted that breast cancer can be treated and swiftly bridged to remission if a patient has early detection. It is advised to start mammography screenings as indicated by guidelines, women aged between 45-54 every year and women aged 55 and older once in 2 years. Furthermore, self-examinations are also helpful in detecting superficial lumps or undulations. Early education and awareness is critical, especially since breast cancer when occurring in young women is fairly aggressive. Any unusual discharge or lumps must be checked out at once.

While there is no definitive method of preventing breast cancer, early detection provides the best chance of effective treatment. When detected early, tumors can be surgically removed to eliminate the chances of metastasis. This offers excellent chances of complete recovery and increased survival rates. Alternatively, a patient will be less reliant on chemotherapy drugs which can eliminate or reduce chemotherapy-induced toxic effects resulting in improved quality of life. Early detection will reduce a patient's financial stress; along with emotional and psychological trauma associated with chemotherapy treatment. Since late detection of breast cancer will require aggressive forms of treatment along with surgery, radiation therapy and chemotherapy.

Up until a few decades ago, breast cancer was managed by mastectomy followed by several rounds of chemotherapy. Thanks to the technological and medical advancements that have opened a plethora of treatment options for these patients.

Myths busted!

In addition to a customized treatment plan for individual patients, there needs to be awareness about breast cancer, especially among young people who believe they're unlikely to develop this disease. Here are some other popular misconceptions-

Myth- If no one in the family has had cancer, that means you are risk-free

Only about 5-10% of all cancers are inherited or genetic. Majority of cancers (90-95%) are caused by DNA mutations that could develop over a person's life as a natural progression influenced by age, environmental factors (air pollution, cigarette smoke, tobacco) and encounters with carcinogens. It is advised to receive regular screenings and mammograms even if there's no suspected family history of cancer.

Myth- A cancer diagnosis is always fatal

Indeed, a cancer diagnosis used to be considered terminal. However, survivability rates today are higher than ever especially with early detection and appropriate treatment. With so much global investment in cancer research, certain variants of the disease are entirely curable, and most patients can live a long and healthy life once treated. Breast cancer patients for instance, have a 90% survival rate if detected in early stages (I and II).

Myth- One treatment suits all

We've come a very long way from having limited treatment options. Plans depend on stage of detection, size of lump, age, lifestyle, etc. Patients today can choose between full breast removal (mastectomy) or removal of only the malignant lump (breast conservation surgery). Radiation therapy could be applied depending on the type of surgery and lymph node involvement. Chemotherapy too could be entirely avoided.

In fact, cancer treatment is being customized based on molecular testing: mutations in cancer cells may help guide a patient's treatment. In the last few years, companies have been investing in the development of prognostic tests that can analyses the molecular make-up of a patient's cancer stage and estimate the probability of relapse. These tests are widely available today, even in India.

(Dr Rohan Khandelwal isLead Consultant & Head, The Breast Cancer Centre atCK Birla Hospital)

Disclaimer: The opinions expressed within this article are the personal opinions of the author. NDTV is not responsible for the accuracy, completeness, suitability, or validity of any information on this article. All information is provided on an as-is basis. The information, facts or opinions appearing in the article do not reflect the views of NDTV and NDTV does not assume any responsibility or liability for the same.

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Breast Cancer Patients, Here's What An Oncologist Wants You To Know - NDTV Doctor

The month of October is observed as Breast Cancer Awareness Month

Breast cancer is now the most common form of cancer and has surpassed cervical cancer. Breast cancer is also now more common in the younger age group with more women in their thirties and forties being now diagnosed with breast cancer. This can also be attributed to increasing awareness on the disease but genetic, lifestyle and environmental factors are also at play. We often hear that early diagnosis is important. So how can we maximize the chance of catching breast cancer early? Here are some points to note.

Risk for breast cancer for women is high if there is family history. If a woman has a mother or a sister who has had breast cancer or family members on either her maternal or paternal side who have had breast or ovarian cancer, her risk for developing cancer is higher and therefore it is important for her to screen more often. Inherited gene mutations, such as BRCA1 and BRCA2 increase risk of breast cancer. Women who have inherited these genetic changes are a greater risk. The BRCA gene test is a blood test that helps determine if you have mutations in your DNA that increase the risk of breast cancer.

Family history of breast cancer increases the risk of an individualPhoto Credit: iStock

A self - breast examination along with other diagnostic tools can be powerful in detecting breast cancer early. Breast self-exam is no cost and convenient and helps understand your body better and most importantly if there are any changes, you may catch it early. A breast self-exam is recommended for all women above 20 years of age. There are many guides that help in a detailed self-breast examination and this usually does not take more than 15 minutes. A week after the menstrual cycle is the best time to do a self - breast exam.

A clinical breast exam is recommended annually for those between 20 and 30 years, half yearly for those between 30 and 60 years and annually for those above 60 years. A clinical breast exam happens at the doctor's office.

Mammograms are nothing but low dose x-rays of breast. A mammogram can detect breast changes so early that it may be years before physical symptoms develop and therefore for a women who is at average risk, a mammogram is a good diagnostic tool, especially when ordered after a clinical breast examination when any changes are noted.

Mammograms are not perfect and therefore may miss some cancers and may also lead to over-diagnosis. It is possible that someone is diagnosed with cancer which is caught during screening which may not have caused any problems at all. There is also 3D Mammogram that is available now that is especially found to be useful in women with dense breasts. Your doctor will help you understand the risk and limitations of a mammogram and accordingly provide medical guidance.

The Mammogram Guidance for a women with average risk as per the American Cancer Society is as below. Average risk is defined if a woman she doesn't either have a personal history of breast cancer of a family history or a genetic mutation like the BRCA gene or has not undergone chest radiation therapy before the age of 30.

To improve survival rates and treatment outcomes, it is important for women and men to be fully aware of breast cancer, understand one's own risk and take steps to increase the chances of diagnosing breast cancer early.

(Dr Simi Bhatia fromSRL Diagnostics, Mumbaihas almost 30 years of experience in laboratory medicine)

Disclaimer: The opinions expressed within this article are the personal opinions of the author. NDTV is not responsible for the accuracy, completeness, suitability, or validity of any information on this article. All information is provided on an as-is basis. The information, facts or opinions appearing in the article do not reflect the views of NDTV and NDTV does not assume any responsibility or liability for the same.

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Breast Cancer Awareness Month: All You Need To Know About Early Detection Of Breast Cancer - NDTV

A mother and daughter from Blair, Nebraska, are in remission after their simultaneous battles with breast cancer. If you look through the branches of Amanda Nelson's family tree, you'll find a long history of breast cancer. So it was no surprise to her when she found out she carries the BRCA-2 gene, which makes her more susceptible to the disease."I knew without a doubt just from that history that the risk was very high for me," said Nelson. "There really never was a question of if I would get breast cancer, it was just always a matter of when is it going to happen," said Nelson.Nelson stayed on top of her breast health, scheduling annual mammograms and breast MRIs."So with that breast MRI, it does take a deeper dive so-to-speak out of that breast tissue, just to see what's going on," said Nelson. "It's a better picture from what you're going to get with a mammogram."Then in 2019, that MRI caught a tumor deep in her breast tissue."I believe is what saved my life," said Nelson.Things were already hard for Amanda, who was taking care of her mom, Terry Wulf, after she received a diagnosis of her own, a rarer form of breast cancer known as triple-negative. "It was scary. It was really, really scary to get hers," said Nelson.The mother and daughter's treatments were very different. Amanda underwent a double mastectomy, while her mom was put on several rounds of chemotherapy and intensive oral medications. "That was probably so hard on my body, that that is when I truly thought I wasn't going to live any longer, that that was going to kill me," said Wulf. Dr. Katie Honz is a reconstructive surgeon with Methodist Health System. She followed the two on their journey and performed Amanda's reconstructive surgery. Honz and a team of doctors meet each week for a tumor conference. These experts analyze cancer masses and come up with options for each patient. "These patients need a lot of care, even down to their physical therapy and support teams," said Honz. Wulf's battle with cancer would continue. To her doctors' surprise, Wulf was diagnosed with another form of cancer in her fallopian tube. But, with her daughter by her side, they never gave up, and after long, arduous battles, they both went into remission. Now, Terry and Amanda both ask others to keep a close eye on their breast health. Amanda hopes women can find groups for support and the right doctor to make everything more manageable. "I just want to think, 'I made it through it. And now I just want to live my life,'" said Wulf.

A mother and daughter from Blair, Nebraska, are in remission after their simultaneous battles with breast cancer.

If you look through the branches of Amanda Nelson's family tree, you'll find a long history of breast cancer. So it was no surprise to her when she found out she carries the BRCA-2 gene, which makes her more susceptible to the disease.

"I knew without a doubt just from that history that the risk was very high for me," said Nelson. "There really never was a question of if I would get breast cancer, it was just always a matter of when is it going to happen," said Nelson.

Nelson stayed on top of her breast health, scheduling annual mammograms and breast MRIs.

"So with that breast MRI, it does take a deeper dive so-to-speak out of that breast tissue, just to see what's going on," said Nelson. "It's a better picture from what you're going to get with a mammogram."

Then in 2019, that MRI caught a tumor deep in her breast tissue.

"I believe [the MRI] is what saved my life," said Nelson.

Things were already hard for Amanda, who was taking care of her mom, Terry Wulf, after she received a diagnosis of her own, a rarer form of breast cancer known as triple-negative.

"It was scary. It was really, really scary to get hers," said Nelson.

The mother and daughter's treatments were very different. Amanda underwent a double mastectomy, while her mom was put on several rounds of chemotherapy and intensive oral medications.

"That was probably so hard on my body, that that is when I truly thought I wasn't going to live any longer, that that was going to kill me," said Wulf.

Dr. Katie Honz is a reconstructive surgeon with Methodist Health System. She followed the two on their journey and performed Amanda's reconstructive surgery. Honz and a team of doctors meet each week for a tumor conference. These experts analyze cancer masses and come up with options for each patient.

"These patients need a lot of care, even down to their physical therapy and support teams," said Honz.

Wulf's battle with cancer would continue. To her doctors' surprise, Wulf was diagnosed with another form of cancer in her fallopian tube. But, with her daughter by her side, they never gave up, and after long, arduous battles, they both went into remission.

Now, Terry and Amanda both ask others to keep a close eye on their breast health. Amanda hopes women can find groups for support and the right doctor to make everything more manageable.

"I just want to think, 'I made it through it. And now I just want to live my life,'" said Wulf.

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Mother and daughter survive simultaneous battles with breast cancer - KETV Omaha

Someone with a family history of breast cancer or with an acquired mutation in the BRCA1 or BRCA2 gene, can get themselves tested.

Breast examinations are the easiest way to diagnose breast cancer. Your doctor will examine your breasts and lymph nodes in your armpit, feeling for lumps.

Other ways are a mammogram, an X-ray of the breast. Ultrasounds or a biopsy can also help diagnose breast cancer. Breast magnetic resonance imaging (MRI) is an accurate method to check for breast cancer risks.

Those with inherited mutations in the BRCA1 or BRCA2 gene can get a BRCA gene test, a blood test that's done to determine if you have changes (mutations) in your DNA that increase the risk of breast cancer.

BRCA genetic testing can also guide treatment options for women with breast or ovarian cancer. Women with one cancerous breast can opt to get both their breasts removed, instead of having surgery only on the affected breast.

If one is diagnosed with breast cancer, depending on your breasts, your doctor will recommend treatment.

Surgery, radiation therapy, chemotherapy, hormone therapy or a targeted therapy are some of the common treatments for breast cancer. It is important to consult with your doctor before choosing any means of treatment.

Originally posted here:
Breast Cancer Awareness: What people with a family history of cancer should know about the risk of breast cancer? - Times of India

Its nice [being back on campus] because now that we know what its like to leave, it makes being back all that more special, Becca Bucholz (COM20) (not pictured) said on Sunday. Photo by Jackie Ricciardi

COMMENCEMENTSpeaker Victor J. Dzau (Hon.20), National Academy of Medicine president: Apathy is a luxury we simply can no longer afford

Nearly a year and a half after receiving their diplomas, Boston Universitys Class of 2020 finally donned their scarlet caps and gowns and were honored for their four years of work and studyingthe COVID-postponed 147th Commencement was held on Nickerson Field Sunday afternoon.

COVID robbed you of a traditional senior year, speaker Victor J. Dzau (Hon.20), president of the National Academy of Medicine, said in his Commencement address to the 1,818 Class of 2020 graduates who returned to campus for the long-awaited ceremony. They traveled from 46 states and represented 61 countries. You have already demonstrated incredible resilience and fortitude, Dzau said. You have prevailed and are here today with each other.

Of the 6.2 billion doses of COVID vaccines administered worldwide, just 2 percent of people in low-income countries have been vaccinatedthats unacceptable Victor J. Dzau (Hon.20) said to applause. We cant end this pandemic anywhere until we end it everywhere. Video by BU Productions. Photo by Melissa Ostrow

He noted that an atypical ceremonycoming as it did in October, not Maywas fitting for the Class of 2020 since there is nothing typical about them. Their childhood was marked by 9/11, their adolescence defined by the 2008 global financial crisis, and now they enter adulthood during the greatest public health emergency in over a century. There will be even more crises and setbacks, Dzau said, and while painful, they can also present opportunities. If we can view adversity in this wayas a chance to learn, to grow, and to emerge stronger and wiser than we ever thought possiblethen we can face the future with confidence, he told the approximately 7,500 grads and guests on Nickerson.

Dzaus pioneering research in cardiovascular medicine is credited with helping millions around the world live longer, better lives. As a child he and his family fled communism in his home country of China during its civil war, and moved to Montreal. His research in cardiovascular medicine led to the development of lifesaving ACE inhibitors that treat hypertension and congestive heart failure and pioneered gene therapy for vascular disease. Now, as president of the National Academy of Medicine, he works to create a global system of quality, affordable healthcare and leads the academys response to COVID.

He shared what hes learned, sprinkled with anecdotes from his own life: keep going, find your purpose in life, surround yourself with people who help you persevere (and be sure to return the favor), and keep caring about, and improving, the world.

Growing up an immigrant and a refugee, Dzau said, he saw firsthand instances of injustice, discrimination, and suffering, and he noted that the current pandemic has led to more of the same, specifically regarding access to COVID-19 vaccines. Of the 6.2 billion doses of COVID vaccines administered worldwide, just 2 percent of people in low-income countries have been vaccinatedthats unacceptable, he said to applause. We cant end this pandemic anywhere until we end it everywhere. If we allow variants of the virus to keep emerging and spreading, we may even end up in a situation where the vaccines dont protect us anymore.

The National Academy of Medicine is working closely with the Global Preparedness Monitoring Board (COVAX), the global immunization program, and national leaders, including the Biden administration, to ensure equitable access to COVID vaccines, treatment, and testing. Apathy is a luxury we simply can no longer afford, especially when we face big global challenges such as pandemics and climate change, Dzau said. We have to cooperate with each otherin our communities and across borders. We have to keep caring.

It was a busy weekend on campusin addition to Sundays All-University Commencement, individual schools and colleges held Class of 2020 recognition events (called convocations in past years), where the now-alumni had the traditional experience of hearing their names called and walking across the stage. The class also mingled with lots of fellow alums, as the University hosted its annual Alumni Weekend as well.

While the Class of 2020 received a virtual send-off in May 2020, when the state of the pandemic made large, in-person gatherings impossible, it wasnt a substitute for the real thing. It may have taken 17 months, but it is a pleasure to welcome to Nickerson Field the members of the Class of 2020 and your guests; you told us you wanted to return to campus, and you did, BU President Robert A. Brown said in his greeting. Your senior year was interrupted like no other, you were forced to move off campus and adapt to Zoom learning You then moved on to your careers, all with COVID-19 raging. I could not be more proud of youthere has never been a class more deserving of a Commencement.

Although COVID-19 restrictions were more relaxed than for last Mays Class of 2021 Commencement, University officials requested attendees be vaccinated and required masks be worn during indoor events. But many chose to wear masks on Nickerson Field, too. And unlike the 2021 graduation, where no guests were allowed, the Class of 2020 could have four guests.

For the first time in BU history, the Commencement student speakerMacken Murphy (CAS20)was an alum. It might feel, for many of you, that the sunset of your education was taken from you; I know none of you expected to graduate late from an online university, he joked, going on to say that his classmates time in school taught them how to become better citizens. Yes, we worked on our math and writing; we also reflected on our morals and values. Yes, we studied science; we also discovered the importance of service. Of course, we studied historywe also learned that we are living in it. Now, at last, it is time to concentrate on worthy goals, display our intelligence, and prove our character.

Following his address, Dzau received an honorary Doctor of Science from Brown. Also receiving honorary degrees were Thomas R. Insel (CAS72, MED74), former director of the National Institute of Mental Health, Doctor of Science; David Satcher, 16th US Surgeon General, former Secretary for Health in the Department of Health and Human Services, and former director of the Centers for Disease Control and Prevention, Doctor of Laws; and Mark Volpe, who recently stepped down as president and CEO of the Boston Symphony Orchestra, Doctor of Humane Letters.

Also honored were the winners of the 2020 Metcalf Cup and Prize and Metcalf Awards for Excellence in Teaching, the Universitys highest teaching awards. The Metcalf Cup and Prize went to Sarah Sherman-Stokes, a School of Law clinical associate professor of law, who is credited with helping make LAWs Immigrants Rights & Human Trafficking Program nationally recognized. Seth Blumenthal (GRS13), a College of Arts & Sciences Writing Program senior lecturer, and Courtney Goto, a School of Theology associate professor of religious education, were the recipients of the Metcalf Awards.

I think were all really excited to finally be having this moment of closure and to reunite with our friends, since a lot of us moved out of Boston, Kylie Umehira (COM20) said on her way into Nickerson Field.

Were reliving some of our glory days, added her friend Becca Bucholz (COM20). It had been a full year since the friends had been able to spend time together, so after the ceremony, they had a fancy dinner and champagne planned. A lot of us are working, so its nice to pretend that were back as students, she said. Its nice because now that we know what its like to leave, it makes being back all that more special.

Alene Bouranova contributed reporting to this story.

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The word Pandemic instantly takes me to the days of medical school, where we studied it as if it was a fictional entity, while never expecting to implement the knowledge in practice. Metaphors sound frivolous the way things have unfurled over past couple of months.

Everyone has been affected. With so many lives lost and many families left in despair and misery, this is perhaps the most shocking crisis of many peoples lives.

While for the larger population, this disease is all about lockdowns, keeping safe, protecting families and making ends meet; its implication for doctors is multifaceted. Without any immunity from the disease and with constant threat of violence, doctors bracedfor the unseen enemy since the beginning. As our country catapulted into the deadly second wave this summer, the challenges became even more stark. What they were dealing with was a mutant virus with high infective potential, failing health infrastructure and a billion plus unvaccinated population.

But this became the period when complacence overtook good sense, thirst for power overlooked greater good and the concept of shared responsibility was binned. Conveniently ignored was the fact that we had never touched baseline of normalcy and many places in world were still battling with subsequent waves. Poor planning and unscientific outlook were recipe for disaster.

A plethora of treatment options started being circulated amongst general population on social media platforms. Where a person with no medical background is free to administer treatment, doctors are being questioned over injudicious of some drugs. Where faltering oxygen supply and drug shortage is taking lives, doctors are harassed for loss of lives due to known complications of diseases. Where propaganda alternative medicine is portrayed as a panacea for COVID, doctors are asked to prove beyond doubt the rationale behind use of experimental drugs! Doctors have been facing this disease in its most horrendous forms. They have lost loved ones too. The plight of dying patients and distraught families has left their psyches scarred. Notwithstanding all this, their hope thrives on recovery of patients. Those who serve you do not yearn to be called Warriors or God; we just want patients to understand that our every effort we make is for your well-being. Every doctor believes in Do No Harm. The disbelief towards our intent is disconcerting. And when fear rather than care and compassion becomes our guiding principle, it is death knell for the medical system.

There are thousands of diseases in the world, but Medical Science only has an empirical cure for twenty-six of them. The rest is. guesswork. These words of Erich Segal in his famous novel Doctors so aptly described the state of medical science way back in 1988. We have come a long way since then. There has been phenomenal advancement in diagnostics and therapeutics in all specialities. It is for these advances in medicine, today we have options to treat COVID patients and save lives. Researchers came up with effective vaccines in unprecedented time. Modern medicine is evidence based.

A medical practitioner selects treatment options for specific cases based on the best research, patient preferences, and individual patient characteristics. But it is not an absolute science. Drugs that are effective in some patients might be ineffective in others; treatment of choice for diseases change as more insight into pathophysiology and imaging is attained. Hundreds of hours of scientific researches and deliberations are needed to develop a drug molecule and still more to prove its safety and efficacy. It took years of massive outreach programmes to eradicate few viral diseases. And despite every effort, there are still diseases that leave us intrigued and crippled. We too look forward to the day when gene therapy would eradicate blindness in young retinitis pigmentosa patients and new treatment options will likewise emerge for diseases that are still untreatable.

We doctors have been trained on ethical and humanitarian grounds. Hippocrates never prepared us for war-like situations, but that didnt deter any doctor in these perilous times. It is ironical that anything that is on social media is accepted to be the truth, whereas every word of doctors is scrutinized. The blabbering of self-promoting, fame mongers against the noble profession is an affront to our dedication and service. The development of alternate forms of medicine doesnt mandate disregard of the existing, proven and life saving modern medicine. The myopic policies for health and collective consciousness against doctors are corrosive to the future of this nation already compromised by the wrath of COVID19. If this catastrophic period doesnt change anything, nothing ever will.History will repeat with this denial of culpability and inaction at the highest level. The blind spots in sight must not taint ones vision. Its time to prioritize health and be prepared for any incipient third wave.

Also read: SubscriberWrites: Effective mechanism needed for providing ex-gratia to families of Covid victims

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