Archive for the ‘Gene Therapy Doctor’ Category

Amidst a global push for mass vaccination as the battle against COVID-19 rages on many people are still afraid to be vaccinated.

People remain concerned about the perceived experimental nature of vaccines, whether they should be worried about short term risks such as blood clotting and myocarditis; and long term risks including side effects relating to DNA changes, fertility and reproduction, and other unknown long term chronic illnesses and side effects further down the track.

A lot of people continue to wonder whether the risks of vaccination outweigh the benefits.

Greek City Times spoke to trained scientist and medical professional Dr. Nicholas Lelos in our search for answers to some of the questions currently circulating around the controversial topic of vaccination, and here is what he had to say.

The science is constantly changing and there are multiple new sources of information. I think the most important thing to establish is that people need to be wary of sources, as there is a lot of anecdotal evidence and misinformation.

The most rife one, unfortunately, is that provided by several individuals that are prefaced by Dr. when this could be a PhD of certain institutions, a higher degree into a non-medical specialty (such as a nutritionist), or from institutions that have lax criteria in awarding the title. These individuals go on and publish their opinions and evidence that they highly cherry-pick on their own website, or some other sites of little to no accreditation or peer-reviewing, whereupon they then reference and draw whatever conclusions they wish.

Even a fully trained medical doctor, however, is not immune to various influences, and of having an agenda.

This is particularly evident in the United States, where a lot of authoritative narratives come with sponsoring from either competing pharma companies, anti-vaxxer sites or organisations, or even religious bodies that are trying to alter the narrative.

My personal advice, as a trained scientist before doing medicine just because it is published, available online, or even appears in a Journal, do not ever take anything as established fact: the key skill here is critical appraisal. This involves finding many different sources, checking their credentials and biases/conflicts of interests, then assessing the quality and level of evidence they furnish.

Critical appraisal is a difficult and lengthy task and a lot of people have confirmation bias, where if they see something that vaguely echoes their existing beliefs or ideas they are most likely to jump on it and not question it. It is important to look at patterns and identify various factors that can impact the question studied.

My own personal declaration is that I have no vested interests in the writing of this article, I receive no money or endorsement from institutions or of big pharma.

I only offer my experience and knowledge as someone who is a front-line clinician, and I am at the very forefront of the pandemic since the very beginning a protected population is everyones priority, from my patients to my friends and family.

Let us move with the questions.

Some have suggested that safe and effective early treatment alternatives exist such as hydroxychloroquine and ivermectinin place of vaccination. Is it true that the refusal of health authorities to issue early treatment guidance has contributed to the mortality rate of the disease?

To paraphrase another colleague there is a difference for clinical care involving individual patients, where you can see a lot of horrible side effects and consequences, and public health or epidemiology, which is the study of entire populations.

Public health is about finding solutions for multiple populations, whilst also looking into environmental impacts on health, genetics, historical cultural effects and even governmental.

The individual effect of a single drug can do miracles for an individual, or even 10 or 100, or your relatives, or even work well for one doctor or a group of doctors using it at a specific location with certain groups of patients this will not, however, mean that it will work across the entire population. And this is what the policy is made of, and what the World Health Organisation (WHO) are basing their decisions from.

The refusal of these health authorities basically entailed not using their population as test subjects for medications that have never been tested for this purpose. It would have been acceptable in Victorian times but there was also a really high accepted death risk which most people may struggle with nowadays.

So to answer your question there is currently no evidence that these medications work in severe or life threatening COVID.

Dexamethasone, a steroid, works when patients are gravely ill and about to be mechanically ventilated this has been studied, reduces mortality and ventilation needs.

Supplements and vitamins boost the immune system, so they help generally in health- but they do not treat COVID. And you need to have deficiencies of vitamins to benefit from supplementation anyway.

Hydroxychloroquine is a hideously potent medication used for malaria and immunosuppression, and has a relatively narrow window for it to do its effects before becoming toxic. A single tablet can kill children below 6 years of age. Definitely not a good option to have lying around the household. Here is a summary of the current state of these so-called remedies https://www.bmj.com/content/370/bmj.m3379

Here is an excellent live article that is getting constantly updated as new information gets out with other treatments for COVID and the evidence https://www.bmj.com/content/370/bmj.m2980

If it is true that there are safe and effective early treatment alternatives such as hydroxychloroquine and ivermectin, why the push for global vaccination?

So as stated above there are no other effective early treatment alternatives. Even steroids that work for severe COVID, when studied for mild cases, did not have a benefit.

Vaccinations, on the other hand, have worked time and time again small pox and polio have been eradicated, and measles was almost controlled until the rise of vaccination hesitancy when people did not have the stark reminders of their children dying on them or having life-long disabilities (such as with polio).

Global vaccination has worked in the past.

What is herd immunity and how does it relate to the COVID vaccine?

Herd immunity is a principle where a certain amount of the population needs to be immune in order for the disease to not be able to spread. As it requires hosts to go and infect more people, if enough people have immunity then the disease can not make the jump to infect new hosts and thus protect even people with no immunity, such as the newborn, the immunocompromised or people who develop allergies to the vaccine.

The problem that has come up with this pandemic, is that the different strains of the virus, and individuals immune systems, can elicit a different response in people studies have shown that even getting the virus and having a small course of illness means that you do not generate enough antibodies to protect yourself for long.

Meaning that you can get re-infected, or hit with a different strain.

The concept of vaccination is that it causes a sufficiently strong immune reaction that not only stays for longer but is also more effective against multiple strains. So just getting COVID may not protect someone enough, compared to getting a vaccination or boosters.

This is an approach that has been used very effectively for hepatitis B as well.

The vaccine has been referred to as experimental is this true and should we be concerned?

The technology has actually been around for 40 years. So I would hardly call it new.

Experimental would be accurate in the sense that the vaccines that we use did not have a large period of time to be tested, compared to other medications or treatments but this is usually how any medication or treatment made its debut.

Usually wars and pandemics lead to rapid progress of medical sciences because there is more of a drive to not let people die. Penicillin started in a similar fashion and it is one of our most effective and life saving medications. One of my friends was actually in the Oxford drug trials now she is fully protected.

I have to say, the difference though in this scenario and the past is stark big pharma drug and medication research and development, because of our extremely tight regulatory environment, used to take a long time to assess for safety, but also a lot of the data was not made public. So that the companies could make money.

Now, entire countries are being exposed, but the data is transparent and available to all, an extraordinary achievement in the sense that they are not allowed now to sweep mishaps or issues under the carpet anymore.

Also, external agents and scientists are able to look at the effectiveness data and how well vaccines work without interference from the parent company.

In the push for vaccination the government mentions informed consent. Informed consent must be given prior to administration of the vaccine. Is this a way for the government to avoid responsibility for any future side effects down the track considering that there is not enough data for anyone to ascertain long term effects on the body of vaccination?

Informed consent is one of the linchpins of medical practice you need to let people know about ALL the possible side effects before administering a treatment or procedure, no matter how exceedingly rare they can be. This has always been the case, and is not new.

We have been using vaccination as a principle for nearly 100 years the side-effects of getting COVID, on the other hand, are pretty immediate and quite dramatic.

Which groups should not be vaccinated? (For example those who have recovered from COVID-19 and many groups have no possibility of benefiting from the vaccine, including younger individuals, pregnant women, women of childbearing potential, and those with immunodeficiencies) and why?

So as for who should get it, this is where we are still learning Israel has managed to vaccinate its entire adult population and will be proceeding to reduce the age to include children so more information will be available.

So the very young will probably not be vaccinated at this point, the elderly definitely, emphatically should, as they are the population with the highest complications.

Pregnancy and being of childbearing potential has not shown any impacts at this stage. The numbers that we have for clots are extremely small from the vaccines whereas pregnancy and cancer, or even COVID, increases your risk several orders of magnitude up.

Immunodeficiencies such as HIV or immunocompromised patients due to organ transplants or renal dialysis, however, are still at the forefront of research because they do not seem to generate the immune response that the vaccine requires to provide protection. There is a recent initiative to see whether 3 doses are required for these patients. More information coming soon!

What do you think about claims that the global push towards vaccination is a strategy aimed at securing emergency use authorization (EUA) for COVID gene therapies? Why are some people referring to the vaccines as COVID gene therapies? Is this what they are?

I believe this is the usual rhetoric to trigger people, such as GMO food it does not mean what people think.

Gene therapy has a very specific goal replacing the patients genes, who are usually having defects causing diseases such as cystic fibrosis, with the gene sequences that aims to correct the areas that cause the diseases. Or to enhance the gene structure to provide protection against diseases, such as the recent case with the scientist in China who was aiming for producing resistance to HIV. All of them rely on being able to affect directly the patients DNA structure.

To date, this approach has not been successful the closest we have come is to identify what is missing from the body (proteins) and to provide them to the patient.

These vaccines are definitely not gene therapies they do not affect the DNA.

They work by providing mRNA, which is the blueprints that our cells in our body use to make proteins we are using it ourselves for our own proteins. So vaccinating provides our body with the ability to produce, from ourselves, a component of the virus, which on its own can not infect you.

This is in contrast with previous vaccines, such as the tetanus one, which used to give chopped components of the organisms, or of the live attenuated vaccines, which use the actual virus but weaken it so it does not have the strength to infect the host.

Those have been used extensively over the decades, but have inherently more risk for allergic reactions, or of reactivation.

This mRNA delivery is far more elegant, and far more efficient in providing to the body what it needs to mount an efficient immune response without putting it at risk of getting the infection in the first place.

What is mean by a toxin spike protein factory? Do you think that this what is happening to the bodies of those being vaccinated? Do the vaccines coat our DNA or change our DNA?

So this is complete balderdash the mRNA from the vaccines would need to penetrate the core of our cells, and be transcribed into our DNA which is impossible on its own without several other components.

mRNA is what comes from the DNA being read in order to synthesize proteins. Once it is read, it produces the spike proteins that are coating the outside of the virus it is what it needs to hook into our cells and infect them.

So it is both a key component of the virus, and hence important for our immune system to recognise quickly and efficiently, but also quite useless on its own it is like having a key without a hand behind it to insert it into the lock.

This is what the spike protein factory refers to our own cells have protein factories, this is how our DNA is used we are just borrowing our manufacturing ability to give us copies of these keys to prime our own immune system.

HIV, on the other hand, has got a reverse transcriptase that integrates it into our own DNA which is why no vaccines have been able to be made for it all these years.

Do the COVID vaccines trick the body into making the spike protein of the virus? Is it true that the vaccine is distributed in an uncontrolled way throughout the body and can potentially affect different organs of the individuals depending on where their body makes the spike protein? Could this potentially effect the reproductive organs?

I would like to highlight something interesting here the words used. Tricked. There is no tricking the body gets given blueprints to make the same components as the virus to identify it and use it for a better immune response before getting infected.

It is the virus way into the hosts cell it is not, by itself, causing the disease. Otherwise everyone who got a vaccine would be getting COVID. And this is the problem that we highlighted earlier the single case by case scenario can be different between patients or a group of patients, but when we are talking about populations you look at the big picture.

The disease control centre in the US is currently reviewing evidence about whether the vaccine is causing neurological conditions, such as Guillain-Barre Syndrome. My last reading of the data was about 100 cases reported in 12.5 million vaccines. The average background rates in the US are 10 in 1 million of population, because this condition is usually caused by viral infections.

The direct consequences of COVID are much, much higher and can cause direct neurological damage because you dont just get the spike protein but the whole package.

https://jamanetwork.com/journals/jamanetworkopen/article-abstract/2779759

No correlation has been found so far with the reproductive organs, and pregnant women have been vaccinated without any different effects to the ones that are not pregnant.

This is really important, as the initial trials did not include pregnant or lactating women so this is real world data with about 30000 vaccinated pregnant women that were studied and are being followed up.

Should we be worried about other long term health effects of being vaccinated?

It is only sensible to worry about the unknown or new treatments that have not been around for long enough on the other hand COVID poses a very real and documented risk both for short term and long term consequences.

Long COVID has been found to be quite devastating as it affects the heart, the lungs as well as possibly the brain.

Should we be Worried about DNA Changes, Cancer and Chronic Illness as Possible Side Effects?

Of course we should be worried, and of course big pharmaceutical companies pumping the entire population full of substances that are potentially harmful should make us cautious.

All our cells have a place in how they operate reverse transcription would indeed make it possible to get components integrated into our DNA. There are cells that need to do partially such operations, like the cells of our immune system in order to store the memory of this information so it can recall it when the body gets infected with COVID.

For the entire DNA of every single cell of our body to be changed, or at least the stem cells or germ cells that turn into sperm and eggs, to cause a permanent DNA mutation, would involve a level of technology or exposure of something that currently is only present in science fiction movies.

As highlighted before, this would be gene therapy. And the argument is vacuous the body generates the spike proteins. The virus also has these proteins.

So whether you are getting them from the vaccine or the virus the vaccine does not cause the infective consequences of the virus. These proteins can not be incorporated into the DNA.

Also any cell that has a deviation from the original program gets identified and destroyed by the body anyway this is the whole reason why we do not have more cancer or immune diseases.

Should we be concerned about our children being vaccinated and damaging long term effects on their health or for example reproduction or passing on DNA changes to babies?

For the reason mentioned above, as the vaccine has no ability to affect the germ cells, the answer is currently no.

But everyone is exerting the highest amount of caution before wanting to try it with children the current variants up until now seem to not cause them much distress but reports have been coming of some new strains that have been infectious and cause injury to younger age groups too Watch this space!

Should we be concerned about the vaccine ingredients? Some theories include that the ingredients include fetal cells can you please explain this further and should we be concerned about this?

No concerns about the vaccine ingredients now more than ever. Even the minute concentrations of metals that were used in vaccines decades ago have all been switched to inactive inert substances (see table I below).

Fetal cell lines have been used since the 1960s to trial many of our established treatments and vaccines in the past such as rabies and hepatitis A no parts of the cells or the DNA is in the vaccine, but they have been used to trial whether they worked or not. They were not used to produce the vaccines.

The fetal cell line usage, incidentally, has even been accepted by the Catholic church as able to be used for the common good and re-ratified in 2017. The benefits from these cells have saved millions of lives.

Does the Oxford/AstraZeneca vaccine contain animal/ chimpanzee DNA?

No this is patently false.

It uses an adenovirus (common cold virus) that has its ability to replicate snipped and replaced with the instructions for our body on how to make the spike proteins. So similar outcome to Pfizer or Moderna, but by using a carrier instead.

There have been videos circulating showing metal such as spoons and coins sticking to the injection site on the arm as if magnetised. Why is this happening? Do the vaccines contain any ingredients that would cause this? Is this cause for concern?

Unfortunately, as someone who is working in the front lines as an essential worker, therefore receiving both shots as a priority, and surrounded by colleagues, I have to report that neither myself nor any of my thousand colleagues that I worked with have developed super powers or magnetic abilities.

I would love to see such feats in person.

Why are some people still vulnerable to the virus even after vaccination?

Because the vaccination does not make you immune it does however decrease your risk of dying or being hospitalised from it by 100%.

The problem is when you have only received one shot and your immunity is not fully primed or immunocompromised.

The current scientific theory is about a partially vaccinated person with HIV being the source of one of the current strains in the UK as the virus has more chances to evolve in a partially protected individual and get more ways to infect us.

And people on dialysis or with solid organ transplants are always at risk because of the immune system deficiencies they have or acquire.

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The Search For Answers In The Global Push For Mass Vaccination - Greek City Times - GreekCityTimes.com

In the past 18 months, there is one thought that has crossed the mind of nearly everyone in the world: if I get sick, whats the best way to get help? Medical care, unfortunately, is not evenly distributed, but there are a handful of companies that are making improvements to various processes within healthcare.

Singapore is home to more than 60 multinational medtech firms. The city-state is one of the leaders in medtech R&D in the Asia Pacific region, which is the worlds second largest medtech market with a compound annual growth rate of 9%.

Here are a few medtech companies rooted in Singapore that have caught our eye.

Biofourmis was founded by Kuldeep Singh Rajput in Singapore in 2015 before the company shifted its headquarters to Boston in 2019. The firm mines patient physiology data to provide insights for healthcare providers and pharmaceutical companiesand provides predictive suggestions for optimized personalized care regimens.

Heres how Rajput described Biofourmis work to KrASIA: In the most basic terms, Biofourmis enables clinicians to better manage patients at home by predicting bad outcomes before they happen.

The founder referenced heart disease, the leading cause of death in the world, and said less than 1% of heart failure patients are on the optimal dose of their medication and less than 25% of eligible patients receive all of their goal-directed medical therapy. To address this issue, Biofourmis BiovitalsHF platform uses wearable sensors that monitor patients vital signs at home and feeds data to an AI-powered algorithm, which in turn reports symptoms and other information through an app that can be accessed by patients. This also makes it possible for clinicians to address symptoms even before they manifest.

Another useful platform is Biovitals [emailprotected], which was co-developed by Biofourmis and Brigham and Womens Hospital, a Harvard teaching hospital, for use in Brighams Home Hospital Program. Patients that are part of this initiative had 70% lower readmission rates, a 32% increase in physical activity, and 38% lower costs than patients admitted to hospital facilities, according to a study published in the Annals of Internal Medicine.

With a flexible R&D process, Biofourmis was able to adapt to changing conditions in the past year and a half. At the onset of the pandemic, the company was contacted by a research partner at Queen Mary Hospital in Hong Kong who inquired about a remote patient monitoring solution. The goal was to help clinicians safely mange patients who had contracted the coronavirus. Biofourmis didnt have such a product at the time, but its team of engineers was able to develop its Biovitals Sentinel system, which uses machine learning to create a correlation between multiple vital signs during the patients daily activity and build an individualized biometric signature. The system was added onto the modular Biovitals platform, and then the Singapore Ministry of Health and Australian government also deployed it to monitor and manage COVID-19 patients.

Biofourmis counts a handful of notable investors as stakeholders, including SoftBank, Sequoia Capital, Openspace Ventures, SGInnovate, and EDBI, the private equity and venture capital arm of Singapore Economic Development Board.

Think of Doctor Anywhere as a virtual clinic. The company makes telehealth possible thanks to a team of online licensed medical professionals ready to attend to patients online within minutes. The service keeps people with medical conditions in contact with medical care providers at a time when it is crucial to hunker down and prevent community transmission of COVID-19. Founder and CEO Wai Mun Lim told KrASIA that Doctor Anywhere had around 50,000 cumulative users in January 2019, and that count is now 1.5 million in July 2021.

The company went from having a network of 1,000 medical providersgeneral practitioners, psychologists, psychiatrists, nutritionists, physiotherapists, chiropractors, specialists, and moreat the start of 2020 to nearly 2,500 now.

Lim cites EDBI as a helpful ally in its quest to expand across the region. As a Singapore-based company, the endorsement from the Singapore governments investment arm EDBI is especially meaningful. Their vote of confidence sends a very clear message to the public that Doctor Anywhere has a strong and trusted service. Their in-depth experience within the healthcare and tech space is especially valuable too, as they provide guidance on how to navigate the space to growing companies like ours. The EDBI network is also a very good way for the company to connect the dots within the healthcare and tech sectors across Southeast Asia, the founder said.

Beyond Singapore, Doctor Anywhere already operates in Thailand, Vietnam, Malaysia, and the Philippines. The company has tech hubs in India and Vietnam.

Originally a business that served cleanroom operations, Esco Lifesciences shifted direction around two decades ago. It now designs and makes a range of equipment used for scientific research, medical testing, and healthcare in areas such as fertility, cancer research, genomics, COVID-19 diagnostics, and more. Its machinery and equipment have been sold to medical, testing, and research facilities in more than 100 countries, and is a testament to the companys ingenuity and go-getter attitude.

Escos tools and services are in demand at a critical time when medical research will determine how all nations can move past the pandemic.

CEO XQ Lin describes the current era as the century of biology. He told KrASIA that Esco represents a proxy for growth for the Asian biopharma sector and the company supplies essential tools to major biotech and pharmaceutical companies for research and manufacturing.

Esco has a new facility in Singapore for its contract development manufacturing organization line of business that focuses on gene therapies and cultured meat. The company has production capabilities for established equipment lines in the United States, Europe, and China.

To meet overall demand, Esco raised a record-setting USD 200 million in May from Vivo Capital, Novo Holdings A/S, China Investment Corporation, EDBI, and other investors. The global nature of our investor syndicate also reflects our global ambitions, Lin said.

Hummingbird Bioscience is creating new therapies against cancer and autoimmune diseases by using data-driven methods to identify antibodies. The goal is to create treatment regimens for patients who are not served by current approaches. All of this depends on Hummingbirds proprietary discovery platform, which utilizes computational biology to generate fresh insights about serious diseases.

One landmark discovery made by Hummingbird was a new understanding of HER3, a well-known drug target involved in cancer that was difficult to inhibit, Ingram said. Hummingbirds researchers were able to generate a general solution to finding antibodies that bind specific regions of target proteins, making it possible to develop new drugs that hit hard targets with key roles in diseases.

Hummingbird started with two employees in 2015 and now has a team of 70, of which 90% are in Singapore, co-founder and CEO Piers Ingram said to KrASIA. He cited Singapores pool of highly skilled professionals and a high degree of internationalism in the labor market as core reasons behind establishing the company in the city-state.

Few domains are as international as science. Drug discovery and development is a perfect example of thiswith a need to attract and retain colleagues with both deep technical expertise, insights into disease biology, as well as the processes of taking a drug from concept to the clinic. Singapore fortunately established itself over many years as a highly attractive place to live and do great work, which makes it easy for us build an exceptionally strong team, Ingram said.

In particular, EDBI, the CEO said, has an unparalleled global network in the broader biotech ecosystem, making it possible for Hummingbird to enmesh itself with other stakeholders in the sector.The company has operations in the United States too, and may reshape medical professionals understanding of how to manage previously untreatable diseases.

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These 4 Singaporean companies are changing healthcare as we know it - KrASIA

Cancer treatments are improving as scientists are finding ways to develop new techniques and treatments. One of which is precision medicine, where they have focused on improving patients health using personalized solutions.

RELATED: Oxfords Genomics Pushing the Boundaries of Personalized Medicine

Precision medicine, in the simplest definition, is the way a patient is treated, diagnosed, or prevent disease by checking his/her genetics, environment, or lifestyle.

This type of treatment is related to pharmacogenomics. Where pharmacogenomics is the study of how a persons gene affects his/her response to a drug, it is used to treat a person through effective and safe medication tailored to their genes.

Precision medicine is now commonly used on patients treated with pancreatic cancer, lung cancer, melanoma/skin cancer, and colon cancer. It is also used to detect and treat HIV and cystic fibrosis.

Slowly, it is also seen in treatments for heart diseases, Alzheimers disease, rheumatoid arthritis, and multiple sclerosis.

In cancer patients, most medical facilities treat every patient the same way. However, studies suggest that not everyone responds to treatments the same way. One persons body may react differently with medicines as compared to another person.

Genetics plays a role in treating tumors, and precision medicine promise to tailor treatments based on a persons genes. It is seeing how a tumor would react to certain treatments that may work for other people.

Precision medicine can be used in the prevention and prediction of disease and management and treatment. Here are some examples of how it is used to treat, prevent, or treat people in a practical setting.

Checking your familys history of diseases and illnesses can somehow determine what you are capable of acquiring. If a family member has a history of cancer, heart diseases, diabetes, high blood pressure, or other chronic diseases, there is a high chance of you getting it.

With this data and information, a doctor can create treatment plans to prevent these from happening to you.

For example, when the doctor finds out that any of your family members had breast cancer, then the chances of you having it is likely. The doctor will then decide for you to have regular mammograms to check for any signs.

Newborns (usually right after theyre conceived) are screened where blood samples are taken. This test will check if they have any pre-existing conditions acquired from their parents, check hearing capabilities or heart defects, among others.

This way, the baby will be treated accordingly if any crucial or life-threatening conditions are seen.

For example, the newborn screening shows Baby Mary has severe combined immunodeficiency (SCID), she will receive a bone marrow transplant immediately to battle her condition. SCID is life-threatening to babies since its responsible for fighting off infections.

Personal trackers such as smartwatches or other mobile devices that check on your health can be lifesavers and be tools for precision medicine.

For example, a person is notified by his smart device that he is experiencing abnormal heart rates even if he has no family history of any heart condition. He then goes to see a doctor because of this and has been diagnosed with atrial fibrillation. This device could have saved his life because that condition can lead to a stroke. Now, he can treat his condition before it worsens.

Genomic sequencing can be used to control and track-out infectious diseases. Similar to whats been used to track COVID-19, this approach shows a DNA of a germ or virus where scientists have the opportunity to learn more about it and find a treatment a cure for it.

An example of this is the COVID-19, where scientists were able to extract samples from those infected with the virus and learn about it and find vaccines and cures for it, which is now slowly happening to us.

As a treatment, tumor profiling is genetic testing of a tumor. It is a way for doctors to choose which kind of treatment they would use for a condition. They would know from this process if cancer will return or would need radiation or chemotherapy.

For example, Jennys breast cancer returned and is diagnosed again. But her tumor profiling reveals she has triple-negative breast cancer. Her approach to this, along with her doctors, is a more aggressive one, including chemotherapy, radiation, and mastectomy.

RELATED: FDA Approves GSKs Checkpoint Inhibitor Jemperli for Endometrial Cancer

As mentioned above, pharmacogenomics studies how a person reacts to a certain treatment based on their genes. Doctors using this treatment can gauge if a certain medicine can be effective or not based on a patients history. They can also determine if the patient will experience any serious side effects.

For example, John needs to undergo Fluorouracil (5-FU), which is a type of chemotherapy. But if John has a low level of an enzyme called dihydropyrimidine dehydrogenase (DPD), which helps metabolize fluorouracil in the body, the doctors would need to check on him using pharmacogenomics. If he has a low dose of fluorouracil, an oncologist will decrease the dosage in the chemotherapy to prevent any serious side effects.

With these examples revealed, some facilities and companies provide precision medicine to improve the living conditions of patients treated with different diseases.

ExactCure is a French start-up that combines artificial intelligence with precision medicine to create flawless software for the use of drugs to be used by patients depending on their kidney status, genotype, gender, or age.

Patients use this service by inputting their data, and ExactCure will give the necessary medications based on the information provided.

Tepthera is a Swiss start-up that focuses on cancer immunotherapy, infectious and auto-immune diseases.

Their focus concerning precision medicine is on identifying T cell antigens for better and personalized therapies and treatment.

Caris Life Sciences is a molecular science company that focuses on precision medicine in oncology. They are working on the development of innovative therapeutics and advance potential treatments for cancer in the clinic.

They develop profiling assays for oncology that scan DNA, RNA and proteins to reveal a molecular blueprint to help physicians determine the best course of treatment for cancer patients.

Precigen is a Maryland-based company that is advancing its UltraCAR-T cell therapy approach to treating cancer.

They are now developing next-generation gene and cell therapies that can change the treatment paradigm in immuno-oncology, autoimmune disorders and infectious diseases.

There are numerous ways to treat diseases and medical conditions with the use of precision medicine. Scientists are continually finding out ways to improve patients lives by using their traits.

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Precision Medicine: Improving Health With Personalized Solutions - BioSpace

COVID appears to be in retreat in the U.S. and other nations that have widespread access to vaccines. But some developing countries with high infection rates have become hotspots for viral variants that may be more transmissible or resistant to vaccinesand these variants can quickly cross national borders. For example, the B.1.167.2 variant (now dubbed Delta) that was first detected in India has spread to more than 70 countries and regions, including the U.S.

Much of the developing world lacks the capacity for viral surveillanceefforts to monitor the spread and evolution of new variants. This process requires expensive genomic-sequencing technology and trained workforces that many nations do not have. Nepal, for instance, has sequenced just 0.01 percent of the more than 600,000 cases reported in the country so far. New variants could undo hard-won progress in curbing the pandemic, according to Alina Chan, a postdoctoral fellow specializing in gene therapy and cell engineering at the Broad Institute of the Massachusetts Institute of Technology and Harvard University. Variants that evolve to be able to reinfect previously infected people are likely to also reduce the efficacy of vaccines, she says.

Scientists and organizations around the world are now working to build capacity to hunt for variants in developing countries. They are mobilizing to deliver funds, training and equipment to where these resources are needed most, with aspirations of creating a lasting viral surveillance infrastructure. COVID is the catalyst, says Jairo Mendez-Rico, a microbiologist and adviser on viral diseases at the Pan American Health Organization (PAHO), headquartered in Washington, D.C. But we also need to survey for other pathogens that for sure will come in the future.

In India, 27 laboratories have now banded together to create the Indian SARS-CoV-2 Genomics Consortium (INSACOG). The group plans to sequence 5 percent of all positive COVID cases in the country (the current rate is only 0.09 percent). Shahid Jameel, a virologist and director of the Trivedi School of Biosciences at Indias Ashoka University, says that bringing existing surveillance capacity under a single umbrella could, in principle, make that a feasible goal. But there are not enough trained field-workers, he says, and the laboratories have acute shortages of chemical reagents needed for genomic analyses.

International experts are now stepping in to help. Recently, a nonprofit volunteer group called INDIA COVID SOS formed to assist with the pandemic response in the country. It aims to scale genomic surveillance across India, as well among neighboring South Asian nations. Aditi Hazra, an epidemiologist at Harvard Medical School, co-leads the groups sequencing team, which meets regularly on video conference calls with the directors of Indias sequencing consortium. She says a key objective is to extend viral surveillance to more people in rural areas, where much of the population lives.

Rural surveillance is a priority in Africa as well. Millions of people on the continent live in remote areas that are also hot spots for disease outbreaks, says Akaninyene Otu, a medical doctor and a senior lecturer at the University of Calabar in Nigeria. Several new partnerships aim to boost sequencing in African countries. Otu highlights the Africa Pathogen Genomics Initiative (Africa PGI), which launched last year with support from international donor organizations and private companies. Most of the sequencing capacity in Africa is concentrated in South Africa, Kenya, Nigeria, Morocco and Egypt. The Africa PGI, which is headed by the Africa Centers for Disease Control and Prevention, is setting out to create a pan-African network of sequencing centers to serve the continents 54 countries.

In Latin American countrieswhich are currently reporting some of the highest COVID infection rates in the worldPAHO is spearheading the COVID-19 Genomic Surveillance Regional Network. Some countries in the region already have fairly strong sequencing capabilities, but the network is leading efforts to build surveillance capacity where it does not exist at all, which is the case throughout much of Central America. In the interim, two large reference labsone in Brazil and one in Chileare sequencing samples sent by other countries at PAHO's expense, Mendez-Rico says.

In addition to building partnerships and networks, scientists are also exploring low-cost sequencing technologies that could be deployed easily in the field. Nearly all of the SARS-CoV-2 cases sequenced so far have relied on large, expensive instruments housed in climate-controlled lab facilities. As an alternative, INDIA COVID SOS is encouraging wider use of a handheld sequencing device made by Oxford Nanopore Technologies in England. The device, called the MinION, can run on a battery pack, processes 96 samples at a time and uses software to generate whole genome sequences that can be stored on a laptop. We're looking for technologies that are cheap, efficient, scalable and portable, and this is an example, Hazra says.

Keith Robison, a computational biologist at Ginkgo Bioworks, a Boston-based biotechnology company, agrees that the MinION is a practical option for developing nationsespecially in rural settings. The portable technology was widely used during the recent Ebola outbreaks in the Democratic Republic of the Congo and other West African countries. You can generate sequences with it from anywhere, he says. The MinION has its drawbacks: the quality of the data is not as good as what the lab-based instruments provide, Robison notes. However, that can also be computationally corrected if you have many copies of the same sequence, he says.

Tue Sparholt Jrgensen, a postdoctoral researcher in microbiology at the Technical University of Denmark, argues that whole-genome sequences may not always be needed. All the important SARS-CoV-2 mutations identified so far, he says, sit on the same stretch of genome encoding the microbes well-known spike protein. Jrgensen says scientists can simply target this piece of the viral geome with an alternative method called Sanger sequencing. This method, which was used as part of the effort that led to the sequencing of the complete human genome back in 2003, is still employed by labs all over the world. Unlike whole-genome methods that sequence millions of genetic fragments simultaneously, the Sanger method sequences one fragment at a time. Sanger can't replace whole-genome sequencing, but you can use it for targeted analyses at a fraction of the cost, Jrgensen says. People have been using it in small labs for decades. Id use it to monitor for known variants, [to] qualify samples for whole genome sequencing and for contact tracing [of infected people] in hospitals.

Jrgensen and his colleagues are now working with health officials in Rwanda on plans to expand Sanger-based COVID surveillance in the country. If a new variant emerges in Rwanda and starts spreading [elsewhere] in Africa, then we want to know about it, he says.

Read this article:
New Coronavirus Variants Are Urgently Being Tracked around the World - Scientific American

Each year, an estimated 1.8 million people in the United States are affected by cancer most commonly cancers of the breast, lung, prostate, and blood cancers such as leukemia. While not everyone overcomes the disease, thanks to science, more people are surviving and for longer than ever before in history.

We asked three people whose lives have been impacted by cancer to share their stories how their lives were changed by the disease, and how they're using that experience to change the future of cancer treatments with the hope that ultimately, in the fight against cancer, science will win. Here's what they had to say.

Photo courtesy of Celine Ryan

In September 2013, Celine Ryan woke up from a colonoscopy to some traumatic news. Her gastroenterologist showed her a picture of the cancerous mass they found during the procedure.

Ryan and her husband, Patrick, had scheduled a colonoscopy after discovering some unusual bleeding, so the suspicion she could have cancer was already there. Neither of them, however, were quite prepared for the results to be positive -- or for the treatment to begin so soon. Just two days after learning the news, Ryan had surgery to remove the tumor, part of her bladder, and 17 cancerous lymph nodes. Chemotherapy and radiation soon followed.

Ryan's treatment was rigorous but in December 2014, she got the devastating news that the cancer, once confined to her colon, had spread to her lungs. Her prognosis, they said, was likely terminal.

But rather than give up hope, Ryan sought support from online research, fellow cancer patients and survivors, and her medical team. When she brought up immunotherapy to her oncologist, he quickly agreed it was the best course of action. Ryan's cancer, like a majority of colon and pancreatic cancers, had been caused by a defect on the gene KRAS, which can result in a very aggressive cancer that is virtually "undruggable." According to the medical literature, the relatively smooth protein structure of the KRAS gene meant that designing inhibitors to bind to surface grooves and treat the cancer has been historically difficult. Through her support systems, Ryan discovered an experimental immunotherapy trial at the National Institutes of Health (NIH) in Bethesda, MD., and called them immediately to see if she was eligible. After months of trying to determine whether she was a suitable candidate for the experimental treatment, Ryan was finally accepted.

The treatment, known as tumor-infiltrating lymphocyte therapy, or TIL, is a testament to how far modern science has evolved. With this therapy, doctors remove a tumor and harvest special immune cells that are found naturally in the tumor. Doctors then grow the cells in a lab over the next several weeks with a protein that promotes rapid TIL growth and once the cells number into the billions, they are infused back into the patient's body to fight the cancer. On April 1, 2015, Ryan had her tumor removed at the NIH. Two months later, she went inpatient for four weeks to have the team "wash out" her immune system with chemotherapy and infuse the cells all 148 billion of them back into her body.

Six weeks after the infusion, Ryan and Patrick went back for a follow-up appointment and the news they got was stunning: Not only had no new tumors developed, but the six existing tumors in her lungs had shrunk significantly. Less than a year after her cell infusion, in April 2016, the doctors told Ryan news that would have been impossible just a decade earlier: Thanks to the cell infusion, Ryan was now considered NED no evaluable disease. Her body was cancer-free.

Ryan is still NED today and continuing annual follow-up appointments at the NIH, experiencing things she never dreamed she'd be able to live to see, such as her children's high school and college graduations. She's also donating her blood and cells to the NIH to help them research other potential cancer treatments. "It was an honor to do so," Ryan said of her experience. "I'm just thrilled, and I hope my experience can help a lot more people."

Photo courtesy of Patrice Lee

Patrice Lee got into scientific research in an unconventional way through the late ocean explorer Jacques Cousteau.

Lee never met Cousteau but her dreams of working with him one day led her to pursue a career in science. Initially, Lee completed an undergraduate degree in marine biology; eventually, her interests changed and she decided to get a dual doctoral degree in physiology and toxicology at Duke University. She now works at Pfizer's R&D site in Boulder, CO (formerly Array BioPharma), leading a group of scientists who determine the safety and efficacy of new oncology drugs.

"Scientists focused on drug discovery and development in the pharmaceutical industry are deeply committed to inventing new therapies to meet unmet needs," Lee says, describing her field of work. "We're driven to achieve new medicines and vaccines as quickly as possible without sacrificing safety."

Among the drugs Lee has helped develop during her career, including cancer therapies, she says around a dozen are currently in development, while nine have received FDA approval an incredible accomplishment as many scientists spend their careers without seeing their drug make it to market. Lee's team is particularly interested in therapies for brain metastases something that Lee says is a largely unmet need in cancer research, and something her team is working on from a variety of angles. "Now that we've had rapid success with mRNA vaccine technology, we hope to explore what the future holds when applying this technology to cancers," Lee says.

But while evaluating potential cancer therapies is a professional passion of Lee's, it's also a mission that's deeply personal. "I'm also a breast cancer survivor," she says. "So I've been on the other side of things and have participated in a clinical trial."

However, seeing how melanoma therapies that she helped develop have affected other real-life cancer patients, she says, has been a highlight of her career. "We had one therapy that was approved for patients with BRAF-mutant metastatic melanoma," Lee recalls. "Our team in Boulder was graced by a visit from a patient that had benefited from these drugs that we developed. It was a very special moment for the entire team."

None of these therapies would be available, Lee says without rigorous science behind it: "Facts come from good science. Facts will drive the development of new drugs, and that's what will help patients."

Photo courtesy of Cynthia Kuk

Cynthia Kuk was just 10 years old when they had a conversation that would change their life forever.

"My mother, who worked as a translator for the government at the time, had been diagnosed with breast cancer, and after her chemotherapy treatments she would get really sick," Kuk, who uses they/them pronouns, recalls. "When I asked my dad why mom was puking so much, he said it was because of the medicine she was taking that would help her get better."

Kuk's response was immediate: "That's so stupid! Why would a medicine make you feel worse instead of better? When I'm older, I want to create medicine that won't make people sick like that."

Nine years later, Kuk traveled from their native Hong Kong to the United States to do exactly that. Kuk enrolled in a small, liberal arts college for their Bachelor's degree, and then four years later started a PhD program in cancer research. Although Kuk's mother was in remission from her cancer at the time, Kuk's goal was the same as it had been as a 10-year-old watching her suffer through chemotherapy: to design a better cancer treatment, and change the landscape of cancer research forever.

Since then, Kuk's mission has changed slightly.

"My mom's cancer relapsed in 2008, and she ended up passing away about five years after that," Kuk says. "After my mom died, I started having this sense of urgency. Cancer research is such that you work for twenty years, and at the end of it you might have a fancy medication that could help people, but I wanted to help people now." With their mother still at the forefront of their mind, Kuk decided to quit their PhD program and enter medical school.

Now, Kuk plans to pursue a career in emergency medicine not only because they are drawn to the excitement of the emergency room, but because the ER is a place where the most marginalized people tend to seek care.

"I have a special interest in the LGBTQ+ population, as I identify as queer and nonbinary," says Kuk. "A lot of people in this community and other marginalized communities access care through the ER and also tend to avoid medical care since there is a history of mistreatment and judgement from healthcare workers. How you carry yourself as a doctor, your compassion, that can make a huge difference in someone's care."

In addition to making a difference in the lives of LGBTQ+ patients, Kuk wants to make a difference in the lives of patients with cancer as well, like their mother had.

"We've diagnosed patients in the Emergency Department with cancer before," Kuk says. "I can't make cancer good news but how you deliver bad news and the compassion you show could make a world of difference to that patient and their family."

During their training, Kuk advocates for patients by delivering compassionate and inclusive care, whether they happen to have cancer or not. In addition to emphasizing their patient's pronouns and chosen names, they ask for inclusive social and sexual histories as well as using gender neutral language. In doing this, they hope to make medicine as a whole more accessible for people who have been historically pushed aside.

"I'm just one person, and I can't force everyone to respect you, if you're marginalized," Kuk says. "But I do want to push for a culture where people appreciate others who are different from them."

More here:
Early-onset Alzheimer's stole the memory of his marriage. Then he proposed again. - Upworthy

By Siddhi Jain

New Delhi Experts are forewarning against the third wave of Covid-19 hitting India as early as September, with many fearing that it could hit children disproportionately. According to Rekha Mittal, Neurologist at Rainbow Hospitals, since many adults would have had the disease or the Covid vaccine, in comparison children would be a susceptible population.

Third wave and more waves can always occur in a pandemic till it burns out or there is herd immunity. So far in our experience, the majority of children who have had Covid infection have either been asymptomatic or had mild symptoms. Therefore we hope the next wave will not be a serious threat to children, Mittal told IANSlife.

The treatment of children who get serious manifestations of Covid requires specialists who are trained in intensive care of children, and the appropriate equipment and support staff. We should definitely plan and be prepared for a crisis situation if it does occur. We should not be complacent.

How can a surge in cases be avoided? The expert suggests not letting our guard down, by maintaining Covid-appropriate behaviour such as social distancing, use of masks, and hand sanitisation measures. We need to avoid crowded places such as malls, markets, gatherings etc. Also, the children will get protected indirectly, if the adults around them receive the Covid vaccine.

Rainbow Hospitals successfully administered the wonder drug Zolgensma, which is also the worlds costliest at Rs 16 crore per shot, to a three-year-old Hyderabad boy this month. The medical marvel Zolgensma is a single dose intravenous injection used in gene therapy is for replacing the defective SMN1 gene through an adenoviral vector.

Asked how critical can it be to administer the expensive injection like this with skill, Mittal says: Administering such an expensive and uncommonly used drug can be a challenge. One will need to have complete knowledge about procuring, handling and administering the medication. Also, one would have to have all facilities to handle the side effects if they occur, such as liver damage, drop in platelet count etc.

Speaking about vaccination for children, the doctor said vaccinations for vaccine preventable diseases should continue on time for childrens as per schedule.

Rainbow hospital provides a safe area where children can be brought in for vaccinations. Trials for Covid vaccination in children above 2 years of age have started in India. As and when Covid vaccine is approved and available for children, Rainbow hospitals will be ready to administer the same to as many children as possible. (IANS)

Continued here:
Pediatric healthcare and the third wave of Covid-19 - India New England

Each year, an estimated 1.8 million people in the United States are affected by cancer most commonly cancers of the breast, lung, prostate, and blood cancers such as leukemia. While not everyone overcomes the disease, thanks to science, more people are surviving and for longer than ever before in history.

We asked three people whose lives have been impacted by cancer to share their stories how their lives were changed by the disease, and how they're using that experience to change the future of cancer treatments with the hope that ultimately, in the fight against cancer, science will win. Here's what they had to say.

Photo courtesy of Celine Ryan

In September 2013, Celine Ryan woke up from a colonoscopy to some traumatic news. Her gastroenterologist showed her a picture of the cancerous mass they found during the procedure.

Ryan and her husband, Patrick, had scheduled a colonoscopy after discovering some unusual bleeding, so the suspicion she could have cancer was already there. Neither of them, however, were quite prepared for the results to be positive -- or for the treatment to begin so soon. Just two days after learning the news, Ryan had surgery to remove the tumor, part of her bladder, and 17 cancerous lymph nodes. Chemotherapy and radiation soon followed.

Ryan's treatment was rigorous but in December 2014, she got the devastating news that the cancer, once confined to her colon, had spread to her lungs. Her prognosis, they said, was likely terminal.

But rather than give up hope, Ryan sought support from online research, fellow cancer patients and survivors, and her medical team. When she brought up immunotherapy to her oncologist, he quickly agreed it was the best course of action. Ryan's cancer, like a majority of colon and pancreatic cancers, had been caused by a defect on the gene KRAS, which can result in a very aggressive cancer that is virtually "undruggable." According to the medical literature, the relatively smooth protein structure of the KRAS gene meant that designing inhibitors to bind to surface grooves and treat the cancer has been historically difficult. Through her support systems, Ryan discovered an experimental immunotherapy trial at the National Institutes of Health (NIH) in Bethesda, MD., and called them immediately to see if she was eligible. After months of trying to determine whether she was a suitable candidate for the experimental treatment, Ryan was finally accepted.

The treatment, known as tumor-infiltrating lymphocyte therapy, or TIL, is a testament to how far modern science has evolved. With this therapy, doctors remove a tumor and harvest special immune cells that are found naturally in the tumor. Doctors then grow the cells in a lab over the next several weeks with a protein that promotes rapid TIL growth and once the cells number into the billions, they are infused back into the patient's body to fight the cancer. On April 1, 2015, Ryan had her tumor removed at the NIH. Two months later, she went inpatient for four weeks to have the team "wash out" her immune system with chemotherapy and infuse the cells all 148 billion of them back into her body.

Six weeks after the infusion, Ryan and Patrick went back for a follow-up appointment and the news they got was stunning: Not only had no new tumors developed, but the six existing tumors in her lungs had shrunk significantly. Less than a year after her cell infusion, in April 2016, the doctors told Ryan news that would have been impossible just a decade earlier: Thanks to the cell infusion, Ryan was now considered NED no evaluable disease. Her body was cancer-free.

Ryan is still NED today and continuing annual follow-up appointments at the NIH, experiencing things she never dreamed she'd be able to live to see, such as her children's high school and college graduations. She's also donating her blood and cells to the NIH to help them research other potential cancer treatments. "It was an honor to do so," Ryan said of her experience. "I'm just thrilled, and I hope my experience can help a lot more people."

Photo courtesy of Patrice Lee

Patrice Lee got into scientific research in an unconventional way through the late ocean explorer Jacques Cousteau.

Lee never met Cousteau but her dreams of working with him one day led her to pursue a career in science. Initially, Lee completed an undergraduate degree in marine biology; eventually, her interests changed and she decided to get a dual doctoral degree in physiology and toxicology at Duke University. She now works at Pfizer's R&D site in Boulder, CO (formerly Array BioPharma), leading a group of scientists who determine the safety and efficacy of new oncology drugs.

"Scientists focused on drug discovery and development in the pharmaceutical industry are deeply committed to inventing new therapies to meet unmet needs," Lee says, describing her field of work. "We're driven to achieve new medicines and vaccines as quickly as possible without sacrificing safety."

Among the drugs Lee has helped develop during her career, including cancer therapies, she says around a dozen are currently in development, while nine have received FDA approval an incredible accomplishment as many scientists spend their careers without seeing their drug make it to market. Lee's team is particularly interested in therapies for brain metastases something that Lee says is a largely unmet need in cancer research, and something her team is working on from a variety of angles. "Now that we've had rapid success with mRNA vaccine technology, we hope to explore what the future holds when applying this technology to cancers," Lee says.

But while evaluating potential cancer therapies is a professional passion of Lee's, it's also a mission that's deeply personal. "I'm also a breast cancer survivor," she says. "So I've been on the other side of things and have participated in a clinical trial."

However, seeing how melanoma therapies that she helped develop have affected other real-life cancer patients, she says, has been a highlight of her career. "We had one therapy that was approved for patients with BRAF-mutant metastatic melanoma," Lee recalls. "Our team in Boulder was graced by a visit from a patient that had benefited from these drugs that we developed. It was a very special moment for the entire team."

None of these therapies would be available, Lee says without rigorous science behind it: "Facts come from good science. Facts will drive the development of new drugs, and that's what will help patients."

Photo courtesy of Cynthia Kuk

Cynthia Kuk was just 10 years old when they had a conversation that would change their life forever.

"My mother, who worked as a translator for the government at the time, had been diagnosed with breast cancer, and after her chemotherapy treatments she would get really sick," Kuk, who uses they/them pronouns, recalls. "When I asked my dad why mom was puking so much, he said it was because of the medicine she was taking that would help her get better."

Kuk's response was immediate: "That's so stupid! Why would a medicine make you feel worse instead of better? When I'm older, I want to create medicine that won't make people sick like that."

Nine years later, Kuk traveled from their native Hong Kong to the United States to do exactly that. Kuk enrolled in a small, liberal arts college for their Bachelor's degree, and then four years later started a PhD program in cancer research. Although Kuk's mother was in remission from her cancer at the time, Kuk's goal was the same as it had been as a 10-year-old watching her suffer through chemotherapy: to design a better cancer treatment, and change the landscape of cancer research forever.

Since then, Kuk's mission has changed slightly.

"My mom's cancer relapsed in 2008, and she ended up passing away about five years after that," Kuk says. "After my mom died, I started having this sense of urgency. Cancer research is such that you work for twenty years, and at the end of it you might have a fancy medication that could help people, but I wanted to help people now." With their mother still at the forefront of their mind, Kuk decided to quit their PhD program and enter medical school.

Now, Kuk plans to pursue a career in emergency medicine not only because they are drawn to the excitement of the emergency room, but because the ER is a place where the most marginalized people tend to seek care.

"I have a special interest in the LGBTQ+ population, as I identify as queer and nonbinary," says Kuk. "A lot of people in this community and other marginalized communities access care through the ER and also tend to avoid medical care since there is a history of mistreatment and judgement from healthcare workers. How you carry yourself as a doctor, your compassion, that can make a huge difference in someone's care."

In addition to making a difference in the lives of LGBTQ+ patients, Kuk wants to make a difference in the lives of patients with cancer as well, like their mother had.

"We've diagnosed patients in the Emergency Department with cancer before," Kuk says. "I can't make cancer good news but how you deliver bad news and the compassion you show could make a world of difference to that patient and their family."

During their training, Kuk advocates for patients by delivering compassionate and inclusive care, whether they happen to have cancer or not. In addition to emphasizing their patient's pronouns and chosen names, they ask for inclusive social and sexual histories as well as using gender neutral language. In doing this, they hope to make medicine as a whole more accessible for people who have been historically pushed aside.

"I'm just one person, and I can't force everyone to respect you, if you're marginalized," Kuk says. "But I do want to push for a culture where people appreciate others who are different from them."

View original post here:
'It's a miracle': Cat that a family thought they cremated turns back up at their home - Upworthy

Each year, an estimated 1.8 million people in the United States are affected by cancer most commonly cancers of the breast, lung, prostate, and blood cancers such as leukemia. While not everyone overcomes the disease, thanks to science, more people are surviving and for longer than ever before in history.

We asked three people whose lives have been impacted by cancer to share their stories how their lives were changed by the disease, and how they're using that experience to change the future of cancer treatments with the hope that ultimately, in the fight against cancer, science will win. Here's what they had to say.

Photo courtesy of Celine Ryan

In September 2013, Celine Ryan woke up from a colonoscopy to some traumatic news. Her gastroenterologist showed her a picture of the cancerous mass they found during the procedure.

Ryan and her husband, Patrick, had scheduled a colonoscopy after discovering some unusual bleeding, so the suspicion she could have cancer was already there. Neither of them, however, were quite prepared for the results to be positive -- or for the treatment to begin so soon. Just two days after learning the news, Ryan had surgery to remove the tumor, part of her bladder, and 17 cancerous lymph nodes. Chemotherapy and radiation soon followed.

Ryan's treatment was rigorous but in December 2014, she got the devastating news that the cancer, once confined to her colon, had spread to her lungs. Her prognosis, they said, was likely terminal.

But rather than give up hope, Ryan sought support from online research, fellow cancer patients and survivors, and her medical team. When she brought up immunotherapy to her oncologist, he quickly agreed it was the best course of action. Ryan's cancer, like a majority of colon and pancreatic cancers, had been caused by a defect on the gene KRAS, which can result in a very aggressive cancer that is virtually "undruggable." According to the medical literature, the relatively smooth protein structure of the KRAS gene meant that designing inhibitors to bind to surface grooves and treat the cancer has been historically difficult. Through her support systems, Ryan discovered an experimental immunotherapy trial at the National Institutes of Health (NIH) in Bethesda, MD., and called them immediately to see if she was eligible. After months of trying to determine whether she was a suitable candidate for the experimental treatment, Ryan was finally accepted.

The treatment, known as tumor-infiltrating lymphocyte therapy, or TIL, is a testament to how far modern science has evolved. With this therapy, doctors remove a tumor and harvest special immune cells that are found naturally in the tumor. Doctors then grow the cells in a lab over the next several weeks with a protein that promotes rapid TIL growth and once the cells number into the billions, they are infused back into the patient's body to fight the cancer. On April 1, 2015, Ryan had her tumor removed at the NIH. Two months later, she went inpatient for four weeks to have the team "wash out" her immune system with chemotherapy and infuse the cells all 148 billion of them back into her body.

Six weeks after the infusion, Ryan and Patrick went back for a follow-up appointment and the news they got was stunning: Not only had no new tumors developed, but the six existing tumors in her lungs had shrunk significantly. Less than a year after her cell infusion, in April 2016, the doctors told Ryan news that would have been impossible just a decade earlier: Thanks to the cell infusion, Ryan was now considered NED no evaluable disease. Her body was cancer-free.

Ryan is still NED today and continuing annual follow-up appointments at the NIH, experiencing things she never dreamed she'd be able to live to see, such as her children's high school and college graduations. She's also donating her blood and cells to the NIH to help them research other potential cancer treatments. "It was an honor to do so," Ryan said of her experience. "I'm just thrilled, and I hope my experience can help a lot more people."

Photo courtesy of Patrice Lee

Patrice Lee got into scientific research in an unconventional way through the late ocean explorer Jacques Cousteau.

Lee never met Cousteau but her dreams of working with him one day led her to pursue a career in science. Initially, Lee completed an undergraduate degree in marine biology; eventually, her interests changed and she decided to get a dual doctoral degree in physiology and toxicology at Duke University. She now works at Pfizer's R&D site in Boulder, CO (formerly Array BioPharma), leading a group of scientists who determine the safety and efficacy of new oncology drugs.

"Scientists focused on drug discovery and development in the pharmaceutical industry are deeply committed to inventing new therapies to meet unmet needs," Lee says, describing her field of work. "We're driven to achieve new medicines and vaccines as quickly as possible without sacrificing safety."

Among the drugs Lee has helped develop during her career, including cancer therapies, she says around a dozen are currently in development, while nine have received FDA approval an incredible accomplishment as many scientists spend their careers without seeing their drug make it to market. Lee's team is particularly interested in therapies for brain metastases something that Lee says is a largely unmet need in cancer research, and something her team is working on from a variety of angles. "Now that we've had rapid success with mRNA vaccine technology, we hope to explore what the future holds when applying this technology to cancers," Lee says.

But while evaluating potential cancer therapies is a professional passion of Lee's, it's also a mission that's deeply personal. "I'm also a breast cancer survivor," she says. "So I've been on the other side of things and have participated in a clinical trial."

However, seeing how melanoma therapies that she helped develop have affected other real-life cancer patients, she says, has been a highlight of her career. "We had one therapy that was approved for patients with BRAF-mutant metastatic melanoma," Lee recalls. "Our team in Boulder was graced by a visit from a patient that had benefited from these drugs that we developed. It was a very special moment for the entire team."

None of these therapies would be available, Lee says without rigorous science behind it: "Facts come from good science. Facts will drive the development of new drugs, and that's what will help patients."

Photo courtesy of Cynthia Kuk

Cynthia Kuk was just 10 years old when they had a conversation that would change their life forever.

"My mother, who worked as a translator for the government at the time, had been diagnosed with breast cancer, and after her chemotherapy treatments she would get really sick," Kuk, who uses they/them pronouns, recalls. "When I asked my dad why mom was puking so much, he said it was because of the medicine she was taking that would help her get better."

Kuk's response was immediate: "That's so stupid! Why would a medicine make you feel worse instead of better? When I'm older, I want to create medicine that won't make people sick like that."

Nine years later, Kuk traveled from their native Hong Kong to the United States to do exactly that. Kuk enrolled in a small, liberal arts college for their Bachelor's degree, and then four years later started a PhD program in cancer research. Although Kuk's mother was in remission from her cancer at the time, Kuk's goal was the same as it had been as a 10-year-old watching her suffer through chemotherapy: to design a better cancer treatment, and change the landscape of cancer research forever.

Since then, Kuk's mission has changed slightly.

"My mom's cancer relapsed in 2008, and she ended up passing away about five years after that," Kuk says. "After my mom died, I started having this sense of urgency. Cancer research is such that you work for twenty years, and at the end of it you might have a fancy medication that could help people, but I wanted to help people now." With their mother still at the forefront of their mind, Kuk decided to quit their PhD program and enter medical school.

Now, Kuk plans to pursue a career in emergency medicine not only because they are drawn to the excitement of the emergency room, but because the ER is a place where the most marginalized people tend to seek care.

"I have a special interest in the LGBTQ+ population, as I identify as queer and nonbinary," says Kuk. "A lot of people in this community and other marginalized communities access care through the ER and also tend to avoid medical care since there is a history of mistreatment and judgement from healthcare workers. How you carry yourself as a doctor, your compassion, that can make a huge difference in someone's care."

In addition to making a difference in the lives of LGBTQ+ patients, Kuk wants to make a difference in the lives of patients with cancer as well, like their mother had.

"We've diagnosed patients in the Emergency Department with cancer before," Kuk says. "I can't make cancer good news but how you deliver bad news and the compassion you show could make a world of difference to that patient and their family."

During their training, Kuk advocates for patients by delivering compassionate and inclusive care, whether they happen to have cancer or not. In addition to emphasizing their patient's pronouns and chosen names, they ask for inclusive social and sexual histories as well as using gender neutral language. In doing this, they hope to make medicine as a whole more accessible for people who have been historically pushed aside.

"I'm just one person, and I can't force everyone to respect you, if you're marginalized," Kuk says. "But I do want to push for a culture where people appreciate others who are different from them."

Read the original:
A wife saved her husband during his heart attack by singing the lyrics to 'Stayin' Alive' - Upworthy

Epilepsy is a common long-term brain condition. It causes seizures, which are bursts of electricity in the brain.

There are four main types of epilepsy: focal, generalized, combination focal and generalized, and unknown. A persons seizure type determines what kind of epilepsy they have.

Different types of seizures affect the brain in different ways. For example, focal seizures affect only one part of the brain, whereas generalized seizures affect the entire brain.

To be categorized as having epilepsy, a person must experience two or more unprovoked seizures. Some people can receive an epilepsy diagnosis if they have had one seizure and a doctor thinks they have a high likelihood of having another.

Read on to learn more about the different types of epilepsy and how to manage them.

Epilepsy is a neurological disorder. Its primary identifying factor is recurrent, unprovoked seizures.

Abnormal electrical activity in the brain causes seizures. This brain activity affects how a person feels, acts, and behaves. Depending on the seizure type and severity, a person may or may not lose consciousness.

Before doctors can diagnose a person with epilepsy, they need to decide if a seizure is provoked or unprovoked.

Many things cause seizures. These include head injuries, toxins, tumors, and infections. Doctors must rule out these potential causes before diagnosing someone with epilepsy.

According to the Centers for Disease Control and Prevention (CDC), there are 3.4 million adults and children with epilepsy in the United States. Although it is common, doctors are still finding out more about this chronic disorder.

There are several types of seizures. A person with epilepsy can experience one or multiple types of seizure.

The three primary seizure types are:

The four different types of epilepsy are defined by the type of seizure a person experiences. They are:

Each type of epilepsy affects the brain differently. This means they have different identifying factors and treatments.

People with this type of epilepsy have generalized seizures. These affect both the left and right sides of the brain. Additionally, these seizures may be either motor, which involve physical movement, or non-motor, which do not.

If someone has a motor seizure, they may experience:

Non-motor seizures are also called absence seizures. Symptoms may include:

Generalized epilepsy usually starts during childhood. However, it can also affect adults.

Learn more about epilepsy in children.

People with focal epilepsy have focal seizures. Unlike generalized seizures, focal seizures only affect one part of the brain. They can start in one area and move to others.

These seizures can begin with an aura, which are minor symptoms signifying the seizures onset. This can feel like an uneasy feeling in the stomach, similar to the feeling of riding a rollercoaster.

As the seizure progresses, a person can experience motor and non-motor symptoms. Some motor symptoms of focal seizures include:

Non-motor symptoms do not affect how someone moves. However, they may cause confusion or changes in emotions. Some non-motor symptoms of focal seizures include:

Learn more about focal seizures.

Someone with combination epilepsy has both generalized seizures and focal seizures. Therefore, they can experience a mixture of the symptoms discussed above.

Combined epilepsy is linked to Dravet syndrome, which is a rare, lifelong form of epilepsy. It is usually caused by a mutation in the SCN1A gene. Because it is often misdiagnosed, people who think they or a family member may have these seizures should contact a doctor.

If doctors do not know where seizures originate, they will diagnose a person with unknown epilepsy.

People with unknown epilepsy can have a combination of motor and non-motor symptoms. Motor seizures often present as tonic-clonic (previously referred to as grand-mal). These seizures can have the following symptoms:

These seizures usually last 13 minutes. If they last more than 5 minutes, call emergency services immediately.

Unknown epilepsy also presents with non-motor symptoms. These can include:

Learn more about tonic-clonic seizures.

Although epilepsy is a seizure disorder, this does not mean that every seizure is a sign of epilepsy.

A person can have provoked seizures, which are seizures due to a cause other than epilepsy. Some examples of things that could induce a seizure are:

If a seizure is solely due to one of these causes, the individual does not have epilepsy.

However, if none of these possibilities prompted the seizure, the person may have epilepsy. To make an epilepsy diagnosis, doctors must first find out if someone has had a seizure. Doctors then determine what type of seizure it was.

Doctors can determine whether a person meets the diagnostic criteria through medical history details, EEG tests, blood tests, and brain imaging tests such as a CT scan or MRI.

There are different types of treatments for epilepsy.

Doctors typically use medication to control and stop epileptic seizures. Some drugs work for only one type of seizure, while others can control various seizure types.

A doctor prescribes medications based on a persons seizure type, medical history, and age. If the medication does not help someones epilepsy, doctors may prescribe a different drug in place of, or combined with, the first medication.

Most people who have epilepsy have a good response to this form of treatment.

Some people have drug-resistant epilepsy. This means they cannot control their epilepsy using the first two medications prescribed. Around 33% of adults and 2025% of children with epilepsy do not respond to their first-line treatment and must consider other options.

A doctor will discuss various treatments a person can try. These may include:

Surgery: This option typically works best for people who have seizures originating from one part of the brain. It involves safely removing the focal point, or the part of the brain where the seizures start.

Dietary changes: Some diets may help control seizures. Recommended diets include the modified Atkins diet, ketogenic diet, and low glycemic diet. These diets should be carried out with support from a registered dietitian.

Vagus nerve stimulation (VNS): This therapy treats people with focal seizures. It works by sending mild electrical pulses through the vagus nerve, which leads to the brain. Over time, it changes how brain cells work.

Other options, like behavioral therapy and CBD oil, may help with treating drug-resistant epilepsy.

Learn more about natural remedies for epilepsy.

People with epilepsy must be consistent with their medication and/or treatment regimen. They should also try to avoid seizure triggers. Because triggers vary from person to person, a person can keep a diary of seizures to record possible triggers.

Children with an epilepsy diagnosis often outgrow it with age. For those whose epilepsy continues into adulthood, or people diagnosed later in life, it is very possible to live a normal life with epilepsy. Two-thirds of adults with epilepsy no longer experience seizures as a result of an effective treatment plan.

Learn more about epilepsy in children.

Anyone who suspects they have had a seizure should seek medical attention. A doctor can determine what caused the seizure, the type of seizure it was, and discuss appropriate next steps.

In many cases, epilepsy can be effectively treated and managed with seizure medication. Receiving an accurate and timely diagnosis is essential.

Epilepsy is a common seizure disorder. There are four main types of epilepsy: focal, generalized, combination focal and generalized, and unknown.

A doctor generally diagnoses someone with epilepsy if they have had two or more unprovoked seizures.

Medication is the most common treatment, and two-thirds of adults with epilepsy live seizure-free because of it. If medication does not work, other treatments are available. These include surgery, brain stimulation, and a modified diet.

People with epilepsy must be consistent with their medication and visit a doctor if their seizures appear to worsen.

Although it is uncommon for epilepsy to go away on its own, proper treatment can control the seizures. It is very possible to live a normal, full life with epilepsy.

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4 types of epilepsy, their symptoms, and treatments - Medical News Today

Each year, an estimated 1.8 million people in the United States are affected by cancer most commonly cancers of the breast, lung, prostate, and blood cancers such as leukemia. While not everyone overcomes the disease, thanks to science, more people are surviving and for longer than ever before in history.

We asked three people whose lives have been impacted by cancer to share their stories how their lives were changed by the disease, and how they're using that experience to change the future of cancer treatments with the hope that ultimately, in the fight against cancer, science will win. Here's what they had to say.

Photo courtesy of Celine Ryan

In September 2013, Celine Ryan woke up from a colonoscopy to some traumatic news. Her gastroenterologist showed her a picture of the cancerous mass they found during the procedure.

Ryan and her husband, Patrick, had scheduled a colonoscopy after discovering some unusual bleeding, so the suspicion she could have cancer was already there. Neither of them, however, were quite prepared for the results to be positive -- or for the treatment to begin so soon. Just two days after learning the news, Ryan had surgery to remove the tumor, part of her bladder, and 17 cancerous lymph nodes. Chemotherapy and radiation soon followed.

Ryan's treatment was rigorous but in December 2014, she got the devastating news that the cancer, once confined to her colon, had spread to her lungs. Her prognosis, they said, was likely terminal.

But rather than give up hope, Ryan sought support from online research, fellow cancer patients and survivors, and her medical team. When she brought up immunotherapy to her oncologist, he quickly agreed it was the best course of action. Ryan's cancer, like a majority of colon and pancreatic cancers, had been caused by a defect on the gene KRAS, which can result in a very aggressive cancer that is virtually "undruggable." According to the medical literature, the relatively smooth protein structure of the KRAS gene meant that designing inhibitors to bind to surface grooves and treat the cancer has been historically difficult. Through her support systems, Ryan discovered an experimental immunotherapy trial at the National Institutes of Health (NIH) in Bethesda, MD., and called them immediately to see if she was eligible. After months of trying to determine whether she was a suitable candidate for the experimental treatment, Ryan was finally accepted.

The treatment, known as tumor-infiltrating lymphocyte therapy, or TIL, is a testament to how far modern science has evolved. With this therapy, doctors remove a tumor and harvest special immune cells that are found naturally in the tumor. Doctors then grow the cells in a lab over the next several weeks with a protein that promotes rapid TIL growth and once the cells number into the billions, they are infused back into the patient's body to fight the cancer. On April 1, 2015, Ryan had her tumor removed at the NIH. Two months later, she went inpatient for four weeks to have the team "wash out" her immune system with chemotherapy and infuse the cells all 148 billion of them back into her body.

Six weeks after the infusion, Ryan and Patrick went back for a follow-up appointment and the news they got was stunning: Not only had no new tumors developed, but the six existing tumors in her lungs had shrunk significantly. Less than a year after her cell infusion, in April 2016, the doctors told Ryan news that would have been impossible just a decade earlier: Thanks to the cell infusion, Ryan was now considered NED no evaluable disease. Her body was cancer-free.

Ryan is still NED today and continuing annual follow-up appointments at the NIH, experiencing things she never dreamed she'd be able to live to see, such as her children's high school and college graduations. She's also donating her blood and cells to the NIH to help them research other potential cancer treatments. "It was an honor to do so," Ryan said of her experience. "I'm just thrilled, and I hope my experience can help a lot more people."

Photo courtesy of Patrice Lee

Patrice Lee got into scientific research in an unconventional way through the late ocean explorer Jacques Cousteau.

Lee never met Cousteau but her dreams of working with him one day led her to pursue a career in science. Initially, Lee completed an undergraduate degree in marine biology; eventually, her interests changed and she decided to get a dual doctoral degree in physiology and toxicology at Duke University. She now works at Pfizer's R&D site in Boulder, CO (formerly Array BioPharma), leading a group of scientists who determine the safety and efficacy of new oncology drugs.

"Scientists focused on drug discovery and development in the pharmaceutical industry are deeply committed to inventing new therapies to meet unmet needs," Lee says, describing her field of work. "We're driven to achieve new medicines and vaccines as quickly as possible without sacrificing safety."

Among the drugs Lee has helped develop during her career, including cancer therapies, she says around a dozen are currently in development, while nine have received FDA approval an incredible accomplishment as many scientists spend their careers without seeing their drug make it to market. Lee's team is particularly interested in therapies for brain metastases something that Lee says is a largely unmet need in cancer research, and something her team is working on from a variety of angles. "Now that we've had rapid success with mRNA vaccine technology, we hope to explore what the future holds when applying this technology to cancers," Lee says.

But while evaluating potential cancer therapies is a professional passion of Lee's, it's also a mission that's deeply personal. "I'm also a breast cancer survivor," she says. "So I've been on the other side of things and have participated in a clinical trial."

However, seeing how melanoma therapies that she helped develop have affected other real-life cancer patients, she says, has been a highlight of her career. "We had one therapy that was approved for patients with BRAF-mutant metastatic melanoma," Lee recalls. "Our team in Boulder was graced by a visit from a patient that had benefited from these drugs that we developed. It was a very special moment for the entire team."

None of these therapies would be available, Lee says without rigorous science behind it: "Facts come from good science. Facts will drive the development of new drugs, and that's what will help patients."

Photo courtesy of Cynthia Kuk

Cynthia Kuk was just 10 years old when they had a conversation that would change their life forever.

"My mother, who worked as a translator for the government at the time, had been diagnosed with breast cancer, and after her chemotherapy treatments she would get really sick," Kuk, who uses they/them pronouns, recalls. "When I asked my dad why mom was puking so much, he said it was because of the medicine she was taking that would help her get better."

Kuk's response was immediate: "That's so stupid! Why would a medicine make you feel worse instead of better? When I'm older, I want to create medicine that won't make people sick like that."

Nine years later, Kuk traveled from their native Hong Kong to the United States to do exactly that. Kuk enrolled in a small, liberal arts college for their Bachelor's degree, and then four years later started a PhD program in cancer research. Although Kuk's mother was in remission from her cancer at the time, Kuk's goal was the same as it had been as a 10-year-old watching her suffer through chemotherapy: to design a better cancer treatment, and change the landscape of cancer research forever.

Since then, Kuk's mission has changed slightly.

"My mom's cancer relapsed in 2008, and she ended up passing away about five years after that," Kuk says. "After my mom died, I started having this sense of urgency. Cancer research is such that you work for twenty years, and at the end of it you might have a fancy medication that could help people, but I wanted to help people now." With their mother still at the forefront of their mind, Kuk decided to quit their PhD program and enter medical school.

Now, Kuk plans to pursue a career in emergency medicine not only because they are drawn to the excitement of the emergency room, but because the ER is a place where the most marginalized people tend to seek care.

"I have a special interest in the LGBTQ+ population, as I identify as queer and nonbinary," says Kuk. "A lot of people in this community and other marginalized communities access care through the ER and also tend to avoid medical care since there is a history of mistreatment and judgement from healthcare workers. How you carry yourself as a doctor, your compassion, that can make a huge difference in someone's care."

In addition to making a difference in the lives of LGBTQ+ patients, Kuk wants to make a difference in the lives of patients with cancer as well, like their mother had.

"We've diagnosed patients in the Emergency Department with cancer before," Kuk says. "I can't make cancer good news but how you deliver bad news and the compassion you show could make a world of difference to that patient and their family."

During their training, Kuk advocates for patients by delivering compassionate and inclusive care, whether they happen to have cancer or not. In addition to emphasizing their patient's pronouns and chosen names, they ask for inclusive social and sexual histories as well as using gender neutral language. In doing this, they hope to make medicine as a whole more accessible for people who have been historically pushed aside.

"I'm just one person, and I can't force everyone to respect you, if you're marginalized," Kuk says. "But I do want to push for a culture where people appreciate others who are different from them."

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Confused? This is exactly how the federal government's new Child Tax Credit works. - Upworthy

New Delhi: Experts are forewarning against the third wave of Covid-19 hitting India as early as September, with many fearing that it could hit children disproportionately. According to Rekha Mittal, Neurologist at Rainbow Hospitals, since many adults would have had the disease or the Covid vaccine, in comparison children would be a susceptible population.

Third wave and more waves can always occur in a pandemic till it burns out or there is herd immunity. So far in our experience, the majority of children who have had Covid infection have either been asymptomatic or had mild symptoms. Therefore we hope the next wave will not be a serious threat to children, Mittal told IANSlife.

The treatment of children who get serious manifestations of Covid requires specialists who are trained in intensive care of children, and the appropriate equipment and support staff. We should definitely plan and be prepared for a crisis situation if it does occur. We should not be complacent.

How can a surge in cases be avoided? The expert suggests not letting our guard down, by maintaining Covid-appropriate behaviour such as social distancing, use of masks, and hand sanitisation measures. We need to avoid crowded places such as malls, markets, gatherings etc. Also, the children will get protected indirectly, if the adults around them receive the Covid vaccine.

Rainbow Hospitals successfully administered the wonder drug Zolgensma, which is also the worlds costliest at Rs 16 crore per shot, to a three-year-old Hyderabad boy this month. The medical marvel Zolgensma is a single dose intravenous injection used in gene therapy is for replacing the defective SMN1 gene through an adenoviral vector.

Asked how critical can it be to administer the expensive injection like this with skill, Mittal says: Administering such an expensive and uncommonly used drug can be a challenge. One will need to have complete knowledge about procuring, handling and administering the medication. Also, one would have to have all facilities to handle the side effects if they occur, such as liver damage, drop in platelet count etc.

Speaking about vaccination for children, the doctor said vaccinations for vaccine preventable diseases should continue on time for childrens as per schedule.

Rainbow hospital provides a safe area where children can be brought in for vaccinations. Trials for Covid vaccination in children above 2 years of age have started in India. As and when Covid vaccine is approved and available for children, Rainbow hospitals will be ready to administer the same to as many children as possible.

(IANS)

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Pediatric healthcare and third COVID-19 wave - Sambad English

AstraZenecaand MSD'sKoselugo(selumetinib) has been granted conditional approval in the European Union (EU) for the treatment of symptomatic, inoperable plexiform neurofibromas (PN) in paediatric patients with neurofibromatosis type 1 (NF1) aged three years and above.

NF1 is a debilitating genetic condition affecting one in 3,000 individuals worldwide.1,2In 30-50% of people with NF1, tumours develop on the nerve sheaths (plexiform neurofibromas) and can cause clinical issues such as disfigurement, motor dysfunction, pain, airway dysfunction, visual impairment and bladder or bowel dysfunction.3-7

The approval by the European Commission was based on positive results from the SPRINT Stratum 1 Phase II trial sponsored by the National Institute of Health's National Cancer Institute (NCI) Cancer Therapy Evaluation Program (CTEP). This trial showedKoselugoreduced the size of inoperable tumours in children, reducing pain and improving quality of life.7,8This is the first approval of a medicine for NF1 PN in the EU and follows the positiverecommendationby the Committee for Medicinal Products for Human Use of the European Medicines Agency in April 2021. Safety and efficacy data from the SPRINT Phase II trial with longer follow up will be provided as one of the conditions of approval.

Brigitte C. Widemann, MD, Principal Investigator of the SPRINT trial and Chief, NCI Pediatric Oncology Branch, said: "For children with neurofibromatosis type 1, plexiform neurofibromas can grow and develop so significantly that, in some cases, it becomes debilitating. In the SPRINT trial, selumetinib shrank NF1-associated PNs in 66% of patients and showed clinically meaningful improvements in PN-related symptoms."

Dave Fredrickson, Executive Vice President, Oncology Business Unit, said: "As the first medicine approved in the EU for patients with neurofibromatosis type 1,Koselugohas the potential to transform the way plexiform neurofibromas are managed and treated. The SPRINT data showed thatKoselugonot only shrank tumours in some children, but also reduced pain and improved their quality of life. This significant milestone was made possible thanks to our research partners, the National Cancer Institute, the Neurofibromatosis Therapeutic Acceleration Program, the Children's Tumor Foundation, the patient community and every child, parent and doctor involved in the clinical trial."

Roy Baynes, Senior Vice President and Head of Global Clinical Development, Chief Medical Officer, MSD Research Laboratories, said: "Before this approval, surgery was the only treatment option for children in the EU with neurofibromatosis type 1 plexiform neurofibromas. This approval marks a significant step forward in addressing the debilitating impact of these tumours."

The SPRINT Stratum 1 Phase II trial showedKoselugodemonstrated an objective response rate (ORR) of 66% (33 of 50 patients, confirmed partial response) in paediatric patients with NF1 PN when treated withKoselugoas twice-daily oral monotherapy.8ORR is defined as the percentage of patients with confirmed complete (disappearance of PN) or partial response (at least 20% reduction in tumour volume).8Results were published inThe New England Journal of Medicine.7

Koselugoisapprovedin the US and several other countries for the treatment of paediatric patients with NF1 and symptomatic, inoperable PN. Further regulatory submissions are underway. Clinical trials ofKoselugoin adult patients with NF1 PN, including an alternative age-appropriate formulation for paediatric patients, are scheduled to begin this year.

NF1NF1 is caused by a spontaneous or inherited mutation in the NF1 gene and is associated with many symptoms, including soft lumps on and under the skin (cutaneous neurofibromas) and skin pigmentation (so-called 'caf au lait' spots). In 30-50% of people, tumours develop on the nerve sheaths.1,3,9,10These PN can cause clinical issues such as pain, motor dysfunction, airway dysfunction, bladder/bowel dysfunction and disfigurement, as well as having the potential to transform into malignant peripheral nerve sheath tumours.4-7,10PN begin developing during early childhood, with varying degrees of severity, and can reduce life expectancy by eight to 15 years.3,6,11,12

SPRINTThe SPRINT Stratum 1 Phase II trial was designed to evaluate the objective response rate and impact on patient-reported and functional outcomes in paediatric patients with NF1-related inoperable PNs treated with selumetinib monotherapy.7This trial sponsored by NCI CTEP was conducted under a Cooperative Research and Development Agreement between NCI and AstraZeneca with additional support from Neurofibromatosis Therapeutic Acceleration Program (NTAP).

KoselugoKoselugo(selumetinib) is an inhibitor of mitogen-activated protein kinase kinases 1 and 2 (MEK1/2).8MEK1/2 proteins are upstream regulators of the extracellular signal-related kinase (ERK) pathway. Both MEK and ERK are critical components of the RAS-regulated RAF-MEK-ERK pathway, which is often activated in different types of cancers.13

Koselugoreceived US FDA Breakthrough Therapy Designation in April 2019, Rare Pediatric Disease Designation in December 2019 and US Orphan Drug Designation in February 2018. Further orphan designations have been granted in the EU, Japan, Russia, Switzerland, South Korea, Taiwan and Australia.

AstraZeneca and MSD strategic oncology collaborationIn July 2017, AstraZeneca and Merck & Co., Inc., Kenilworth, NJ, US, known as MSD outside the US and Canada, announced a global strategic oncology collaboration to co-develop and co-commercialiseLynparza, the world's first PARP inhibitor, andKoselugo(selumetinib), amitogen-activated protein kinase (MEK)inhibitor, for multiple cancer types. Working together, the companies will developLynparzaandKoselugoin combination with other potential new medicines and as monotherapies. Independently, the companies will developLynparzaandKoselugoin combination with their respective PD-L1 and PD-1 medicines.

AstraZeneca in oncologyAstraZeneca is leading a revolution in oncology with the ambition to provide cures for cancer in every form, following the science to understand cancer and all its complexities to discover, develop and deliver life-changing medicines to patients.

The Company's focus is on some of the most challenging cancers. It is through persistent innovation that AstraZeneca has built one of the most diverse portfolios and pipelines in the industry, with the potential to catalyse changes in the practice of medicine and transform the patient experience.

AstraZeneca has the vision to redefine cancer care and, one day, eliminate cancer as a cause of death.

AstraZenecaAstraZeneca (LSE/STO/Nasdaq: AZN) is a global, science-led biopharmaceutical company that focuses on the discovery, development and commercialisation of prescription medicines in Oncology and BioPharmaceuticals, including Cardiovascular, Renal & Metabolism, and Respiratory & Immunology. Based in Cambridge, UK, AstraZeneca operates in over 100 countries, and its innovative medicines are used by millions of patients worldwide. Please visitastrazeneca.comand follow the Company on Twitter@AstraZeneca.

ContactsFor details on how to contact the Investor Relations Team, please clickhere. For Media contacts, clickhere.

References

1. Cancer.Net. Neurofibromatosis Type 1. Available at:https://www.cancer.net/cancer-types/neurofibromatosis-type 1. Accessed June 2021.

2. National Human Genome Research Institute. About Neurofibromatosis. Available at:https://www.genome.gov/Genetic-Disorders/Neurofibromatosis. Accessed June 2021.

3. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care.Lancet Neurol. 2014;13:834-43. doi: 10.1016/S1474-4422(14)70063-8.

4. Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas.N Engl J Med. 2016;375:2550-2560. doi: 10.1056/NEJMoa1605943.

5. Mayo Clinic. Neurofibromatosis. Available at:https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490. Accessed June 2021.

6. NHS. Neurofibromatosis Type 1, Symptoms. Available athttps://www.nhs.uk/conditions/neurofibromatosis-type 1/symptoms. Accessed June 2021.

7. Gross AM, et al. Selumetinib in Children with Inoperable Plexiform Neurofibromas.N Engl J Med. 2020 Apr 9;382(15):1430-1442. doi: 10.1056/NEJMoa1912735.

8. European Medicines Agency.Koselugosummary of product characteristics. Accessed June 2021.

9. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1.Genet Med. 2010:12(1):1-11. doi: 10.1097/GIM.0b013e3181bf15e3. PMID: 20027112.

10. Ghalayani P, Saberi Z, Sardari, F. Neurofibromatosis Type I (von Recklinghausen's Disease): A Family Case Report and Literature Review.Dent Res J. 2012;9(4):483-488.

11. Evans DGR, Ingham SL. Reduced Life Expectancy Seen in Hereditary Diseases Which Predispose to Early Onset Tumors.Appl Clin Genet. 2013;6:53-61.

12. NIH National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at:https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/neurofibromatosis-fact-sheet. Accessed June 2021.

13.Koselugo(selumetinib) [prescribing information]. Wilmington, DE: AstraZeneca Pharmaceuticals LP; 2020.

Excerpt from:
Koselugo approved in the EU for children with neurofibromatosis type 1 and plexiform neurofibromas - PharmiWeb.com

Cell and gene therapies (CGTs) are poised to revolutionize the landscape of biologic drugs that treat diseases and offer hope in areas where there was previously none. There are 20 FDA-approved CGTs, and this number is expected to grow significantly. Regulators predict that by 2025, they will approve 10 to 20 CGT products a year, based on an assessment of the current pipeline and the clinical success rates of these products. Pharma and biotech companies clearly recognize the potential of CGTs, with 16 out of 20 of the world's largest (by revenue) biopharma companies adding CGT assets to their product portfolios. Valuable insights into what drives progress, to new innovations on the horizon, and the critical challenges that sponsor companies face in developing these treatments were provided by Thomas VanCott, Ph.D., Vice President and Global Head of Product Development, Catalent Cell and Gene therapy. VanCott has over 15 years of experience bringing vaccines and many different therapies from clinical stages to the commercial marketplace, therefore providing a deep understanding of how to successfully navigate the CGT arena.

VanCott: Advancements in technology is a huge accelerator. Currently, the availability of manufacturing platforms and pathways can move these CGTs from the lab to the clinic in a reasonable time frame. Meanwhile, adeno-associated virus has proved to be a safe and flexible gene-delivery mechanism, and with the emergence of other suitable viral vectors and non-viral delivery methods, there are many viable options out there.

Another significant driver has been the early successes with products such as Kite's Yescarta and Novartis'Kymriah. Cell therapy is generating a lot of excitement, and it is not just limited to CART T-cells, but to widely divergent cell types, such as natural killer cells, macrophages and stem cells that are broadening CGT applications.

We have flexibility of viral and non-viral vectors for gene therapies, and different cell types to adapt for cell therapies. We have manufacturing processes in place that can get us into the clinic. Success generates excitement across the board, from scientists, patients and advocacy groups to investors. We have a lot of companies in the space, a lot of investment and a deep pipeline, which is making the future look very promising.

VanCott: Developing scalable manufacturing processes for CGTs within a reasonable cost is a critical challenge. The public is probably willing to pay more for some of these early therapies, but if these really become a staple in doctors'medical arsenals, we will need to work to get these prices down, and the best way to do that is to have more efficient and more scalable processes.

CGTs are so varied and complex that fully characterizing each product's activity is no trivial matter. Consequently, the development of better analytics will be a formidable challenge for this industry.

A lack of effective preclinical models to predict the safety of CGTs is another challenging area for sponsor companies. Safety issues with CGTs get a lot of attention; we need to strive to develop better models that can predict problems before moving these treatments to patients and commencing clinical trials.

The COVID-19 pandemic exacerbated a major problem for the CGT industry, that of supply chain shortages. We have only limited resources and raw materials, and so keeping your supply chain intact to continue manufacturing has definitely been one of the biggest challenges recently.

VanCott: I predict that future innovative therapies will be created using induced pluripotent stem cells. Even though these cells are really difficult to work with, they have almost unlimited applications because they can differentiate into any cell type.

Continued innovation in non-viral gene-delivery methods that will facilitate methods such as tissue-targeting and repeat dosing will propel CGT products forward. There's always been a lot of work in non-viral delivery, but we're seeing an acceleration of that because of the success of the Moderna and Pfizer COVID-19 vaccines that use lipid nanoparticles (LNPs) for effective delivery of mRNA. In fact, without these LNPs, there would be no mRNA vaccines for COVID-19.

Innovations in the field will lead to treatment of other diseases, such as diabetes, Parkinson's and macular degeneration, that affect much larger populations. Historically, CGT has been mostly reserved for treating rare diseases, but I am confident this will change in the near future. Higher-yield CGTs are needed for this to become a reality, and I foresee a surge in allogeneic cell therapies, which could mean having off-the-shelf types of products on the market. In addition, coupling cell therapies with some of these new gene-editing technologies, such as CRISPR/Cas9, you can start to further engineer cells to address countless therapeutic needs.

Data from clinical efficacy and safety of CGTs will unquestionably shape the field. There is great promise that ten years from now, we're going to have many new gene therapy treatments for monogenic diseases and certainly more cell therapies. CGTs are here to stay, and they're going to become an important part of a doctor's arsenal for treating patients.

VanCott: My advice to sponsor companies is to develop more robust processes early on to analyze the critical quality attributes of their products, to formulate their target product profile and to get their manufacturing process commercial-ready all within an earlier time frame. Typically, the development pathway for CGTs is much faster than with more conventional therapies. Instead of taking ten years to develop a product, you're cutting that time in half. Sponsor companies too often underestimate the importance and the time it takes to get the analytics optimized. Spending a significant time at the beginning of the development process to optimize each step and avoid moving forward in a rush with a process that is not rigorous and reproducible is very important.

Seek out CDMO partners that can handle accelerated timelines and give preference to those CDMOs with a fully integrated service offering. In the past, it was pretty standard for sponsor companies to work with a CDMO for the early-stage development, including tech transfer and process development, and maybe clinical Phase 1 and 2, then switch to another CDMO that had the larger-scale capacity and could handle Phase 3 and commercial stages of development. In today's CGT field, you do not have those long timelines, and clients do not have the luxury of switching CDMOs. Successful CDMOs need to offer everything from that initial tech transfer all the way up through commercial production.

Detailed and long-term planning is needed for establishing a reliable supply chain for CGT development. With the COVID-19 pandemic creating a strain on resources, it has not been easy recently to maintain a steady supply chain. However, there is some good news, in that the market will respond to increasing demands. As more companies start producing larger amounts of the needed supplies, and once we get through this initial high demand, there will be more supply making the scarcity of resources a temporary issue. As CGTs become approved for larger indications in the future, the ability of the supply chain to be ramped up, as it was for COVID-19 vaccines, will be a valuable element in the future success of these therapies for the wider population.

To hear from more of the industry's leading CGT specialists, register for the BioPharma Dive webinar, Gene Therapy at a Crossroads: The Challenges and Opportunities Ahead

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Innovation in cell and gene therapy: Insights from an industry specialist - BioPharma Dive

A five-month-oldbaby has become the first patient in England treated with a potentially life-saving drug on the NHS that can prolong the lives of children with spinal muscular atrophy.

rthur Morgan, who was diagnosed with the condition earlier this month, received the one-off gene therapy at Evelina London Childrens Hospital on May 25.

Until two years ago, there were no treatment options available for children with spinal muscular atrophy (SMA), which is the leading genetic cause of death for children.

But babies could potentially have the ability to sit, crawl and walk after being treated with US gene therapy Zolgensma, which has been labelled the most expensive drug in the world.

Zolgensma, which has a list price of 1.79m (2.08m)per dose, was made available on the NHS after the health service struck a deal with manufacturers Novartis Gene Therapies in March.

Baby Arthur, who was born six weeks premature in December, underwent the gene therapy infusion last week after being diagnosed with SMA less than three weeks earlier.

His father Reece Morgan (31) who works as a self-employed plasterer, said: When we found out that Arthur would get the treatment, and be the first patient, I just broke down.

It had been such a whirlwind few weeks, filled with lots of anxiety and adjustment as we learned about his condition and what it might mean for him and our family.

We still dont know what the future will hold, but this gives Arthur the best possible chance to give him the best possible future.

Babies born with Type 1 SMA, which is the most common form of the condition, experience progressive muscle weakness, loss of movement, difficulty breathing, and have a life expectancy of just two years.

Four NHS centres have now been commissioned across the country to administer the treatment, including Evelina London Childrens Hospital, where Arthur was treated.

NHS chief executive Sir Simon Stevens said: It is fantastic news that this revolutionary treatment is now available for babies and children like Arthur on the NHS.

The NHS Long Term Plan committed to securing cutting edge treatments for patients at a price that is fair to taxpayers.

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The 2m-a-dose therapy is just what doctor ordered for baby Arthur - Independent.ie

NEW YORK Myriad Genetics unveiled data at the American Society of Clinical Oncology's virtual annual meeting demonstrating that its polygenic score for assessing breast cancer risk can provide accurate estimates for women regardless of their ancestry.

The company launched riskScore three years ago initially as a test for estimating the five-year and lifetime risk of breast cancer for women who had never had the disease and who do not have a mutation in breast cancer-associated genes detected by its next-generation sequencing myRisk Hereditary Cancer test. However, the availability of the around 86-SNP polygenic risk score to date has been restricted to women who self-identified as having European and Ashkenazi Jewish ancestry.

Now, having recalibrated riskScore to provide more accurate breast cancer risk estimates for women in the US, regardless of their genetic ancestry, Myriad is planning to launch this version of the test later this year for women who qualify for myRisk, which gauges mutations in multiple genes conferring high or moderate risk for breast cancer. In 2022, the company will offer riskScore as a standalone, direct-to-consumer (DTC) test for women who aren't eligible for the myRisk test based on their personal and family history of breast cancer.

Polygenic risk scores rely on the combinatorial power of many SNPs associated with disease risk, but these SNPs have largely been identified in genome-wide association studies done in patients of European ancestry. As such, these scores tend to overestimate disease risk and are less accurate in discerning between high- and low-risk groups in those of non-European ancestry.

For example, studies have shown that Black women have similar incidence of breast cancer compared to white women in the US. But Myriad's 86-SNP riskScore developed for women of European ancestry overestimates the breast cancer risk in Black women by nearly twofold, said Holly Pederson, who was involved in the effort to recalibrate riskScore and directs medical breast services at the Cleveland Clinic.

Myriad wanted to address this limitation within its test and has been refining riskScore in Hispanic, African American, and other racial groups for several years. Pederson presented the culmination of those efforts at ASCO's annual meeting and unveiled a new 93-SNP riskScore, re-engineered for all ancestries using data from more than 275,000 women.

The new iteration of riskScore will not only test women for 93 breast cancer-associated SNPs, but also for 56 ancestry-associated genes, in order to calculate an ancestry-specific result that corresponds to their chances of developing breast cancer in the next five years and over their lifetime. This will preclude women from having to self-report their ancestry, which can be inaccurate, especially for non-European women. "What I found during my years of seeing patients is that many patients weren't entirely sure of their ancestry, and this will no longer be a barrier for care," said Nicole Lambert, president of Myriad Genetic Laboratories.

Weighted by genetic ancestry

The 93-SNP riskScore is weighted according to 56 SNPs associated with ancestral lineage from Africa, East Asia, and Europe, the three places that account for most of the genetic diversity in the US. "There are multiple sub-clusters within each of those [continental] clusters, so using three ancestries is a simplification of the full diversity of human populations," Pederson acknowledged during her presentation at the meeting. "However, these three ancestries together should reasonably represent most of US human genetic diversity."

Data from more than 189,000 women were used to develop the score, and it was validated in data from more than 89,000 women. In these cohorts, 23 percent of women had breast cancer and around 30 percent had a first-degree relative with the disease. Roughly 10 percent of women in these cohorts self-reported as Black or African, around the same proportion self-reported as Hispanic, and around 2 percent self-reported as Asian.

To develop the score, researchers led by Myriad CSO Jerry Lanchbury and Elisha Hughes, the company's director of research biostatistics, first developed polygenic risk scores specific to people of African, Asian, and European descent using data from its own hereditary cancer testing customers with self-reported race, as well as from large consortia and genome-wide association studies. For each of the patients in the development cohort, researchers determined their "fractional ancestry" from the three continents using the 56 SNPs, which then allowed for the ancestry-adjusted calculation of their risk for developing breast cancer based on the 93 SNPs.

"The different alleles found for each SNP in an individual woman are interpreted not only as a function of her ancestral composition, but also on the frequency of that allele's presence in one of the three continental ancestries because they are each different," Pederson said. "An individual woman's polygenic risk score therefore depends not only on her genotype, but also on her ancestral derivation and the frequency of an allele in a given ancestry."

In the validation cohort, researchers wanted to see how well the re-engineered riskScore distinguished between women at high and low-risk of developing breast cancer across ancestries and how the new score compared to the 86-SNP test for women of European descent. The study showed that the 93-SNP test was generally an improvement over the 86-SNP test in terms of breast cancer risk predictions for women of all ancestries. In their abstract, the authors noted that the Asian cohort was too small to demonstrate that either score was superior.

Furthermore, the validation study showed that the women with the recalibrated riskScore placed in the highest risk category the top 1 percent in fact had a two to threefold greater chance of developing breast cancer compared to average-risk women. For women of all self-reported ancestries, except Black women, if the test placed them in the top decile in terms of risk, they were twice as likely to develop breast cancer compared to average-risk women.

Self-reported African or Black women who were deemed by riskScore to be in the top decile in terms of risk had a 44 percent greater chance of developing breast cancer risk. Pederson said during her presentation that the re-engineered riskScore's ability to assess self-reported Black women's breast cancer risk was "significantly improved" compared to the earlier test but still "sub-optimal." She added that the new score's risk discrimination in Black women will likely become more precise with additional data.

"We have known for some time that genomically-based breast cancer risk stratification was biased towards SNPs from women with European ancestry and did not perform as well in women ofother ancestries," said Corey Speers, assistant professor of radiation oncology at the University of Michigan Rogel Cancer Center. "This study represents an important step to 'level the field' for women of disparate ancestries and more accurately estimate breast cancer risk in these women," Speers, who researches the biology of aggressive breast cancers and wasn't involved in the riskScore study, added.

More definitive guidance

Cleveland Clinic, where Pederson works, hasn't yet incorporated polygenic risk scores into standard disease risk estimation workflows. The academic medical center is participating in a prospective study, called GENRE-2, using a 300-SNP breast cancer polygenic risk score developed by Fergus Couch at the Mayo Clinic. In that study, researchers are tracking if this score helps patients make decisions about breast cancer prevention, such as whether to take endocrine therapy. https://clinicaltrials.gov/ct2/show/NCT04474834?term=GENRE-2&draw=2&rank

Outside of the research setting, however, the lack of validation in non-European populations has been a big reason holding up adoption of polygenic risk scores for breast cancer and other diseases. "Clinically, the polygenic risk score is really in its infancy," Pederson said. "Previous to this, really due to concerns over applicability in non-European populations and interpretation and communication of the results, we have not utilized polygenic risk scores at Cleveland Clinic."

Even though Myriad has been offering the 86-SNP riskScore for European women as part of myRisk at no additional cost, Cleveland Clinic has been opting out of that information, according to Pederson. This study, she believes, may very well change that, since to the best of her knowledge Myriad's test is the only breast cancer polygenic risk score that has been calibrated to be informative for all ancestries.

Speers noted as a positive that the training and validation cohorts in the study presented at ASCO included tens of thousands of women and were well balanced in terms of the factors that are most likely to influence breast cancer risk. He is eagerly awaiting peer-reviewed publication of the data, upon which he expects that riskScore will represent "an important step forward for providing equitable and accurate test results for women of all ancestral backgrounds."

With the increasing use of multi-gene tests, like myRisk, which look for pathogenic variants in moderate-risk genes alongside well-known high-risk genes like BRCA1/2, more patients are receiving results where the management implications aren't well established. This can be particularly difficult when women's personal or family history of cancer doesn't offer straightforward clues as to their future cancer risks.

Myriad and others developing polygenic risk scores are betting that these tests will providerisk information when large NGS panels turn up negative or even refine risk estimates when considered alongside mutations in moderate-penetrance genes, and relieve uncertainties around patient management. "If patients have a genetic mutation in CHEK2, which is a moderate-risk gene, we tell them they have an estimated lifetime [breast cancer] risk of about 30 percent," Pederson said. "But when you look at the risk stratification that can be achieved by a polygenic risk score, patients may have a risk as low as 6.6 percent over the course of her life or a 70 percent risk, which is similar to a patient with a BRCA1/2 [high-risk] mutation."

Women she treats overwhelmingly want to know this information, Pederson said.

Although she believes that Myriad's new riskScore is "sufficiently validated and calibrated" in all ancestries, she would like to see the test factor in patients' clinical features that also increase their chances of developing breast cancer. At her own practice, patients' decisions about having preventive mastectomies or oophorectomies to mitigate their cancer risk isn't just based on genetic testing but also on a variety of other clinical factors, as well as patients' own priorities for their health and family planning.

The genetic test result is "just one piece of information," she said. "While it is useful in and of itself, it'll be even more useful for a woman to get an estimate in combination with those other [clinical] factors. It just allows for more precise estimates and better conversations."

Myriad's 86-SNP score for European women incorporates the Tyrer-Cuzick risk model, which evaluates breast cancer risk based on features like age, body mass index, age of first period, and family history of cancer. Myriad is working on integrating clinical risk features into the recalibrated riskScore, Pederson said, adding that this work will likely be presented at a medical meeting by year end.

Access to all

Myriad is planning to launch the recalibrated riskScore for all ancestries later this year, but in the near-term will maintain it as a physician-ordered test offered alongside myRisk. Next year, however, the company wants to launch riskScore as a standalone test through a DTC model for the estimated 93 million women who don't qualify for testing for high- or moderate-penetrance breast cancer risk genes based on stringent personal and family cancer history criteria, as well as the National Comprehensive Cancer Network's guidelines. "This will allow us to provide a precise risk estimate to all women: myRisk for those who qualify, standalone riskScore for those who dont," said Lambert.

Myriad's DTC plans for riskScore also raises questions about how the company will navigate the regulatory landscape. The US Food and Drug Administration has been clear about its intent to regulate labs marketing genetic tests for assessing disease risk directly to consumers.

23andMe is the only company that currently sells FDA-authorized genetic tests for gauging disease risk, including for cancer, which people can order online without any physician involvement. Other companies offering testing in CLIA-certified labs have found ways around FDA oversight by using third-party physician networks to review and approve customer's online orders. However, this is a controversial model because often the physicians approving test orders don't have much interaction with the patients.

Myriad demurred on its specific regulatory plans, saying that it is still ironing out the specific DTC model it will employ when it launches riskScore as a standalone test next year. "We are currently assessing the regulatory requirements, talking with stakeholders, and creating the specific launch plans," Lambert said.

Pederson backed efforts to broaden access to cancer risk testing, recognizing that using current testing guidelines, largely based on personal and family history of cancer, the healthcare system has identified only a minority of patients with mutations in high-risk genes. At the same time, the rapid introduction of broad NGS panels has made it difficult for physicians lacking genetic expertise to accurately interpret test reports.

As such, a broad marketing strategy for polygenic risk scores must include a robust education plan for patients and providers, Pederson said, including genetic counseling support and resources to help primary care providers interpret test reports and relay nuanced risk information to patients.

Lambert assured that Myriad currently makes genetic counselors available to any doctor or patient ordering germline genetic testing and that these resources would also be available in the consumer-facing service. "We are in the process of evaluating what other services would be desirable as we prepare for the launch of the consumer version in 2022," she said.

Ultimately, given the popularity of DTC genetic testing, "something real like this, if it is priced right and marketed correctly, would really provide women with information that they really want," Pederson said.

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Myriad Genetics Recalibrates Breast Cancer PRS for All Ancestries in Anticipation of Broader Launch - Precision Oncology News

Breast cancer is caused by mutations, or damage, to the DNA in breast cells. Exactly what triggers this change is unknown, but many people will spend countless hours trying to figure it out.

What is known is that there are risk factors that may increase your chances of getting breast cancer. Some of them, like age, family history, and dense breasts, cant be changed. Others are determined by lifestyle factors that can often be controlled.

In the United States, its estimated that around 30% of new cancer diagnoses in women will be breast cancer. This makes early detection and possible prevention very important. In this article, well go over the potential causes of breast cancer and what you can do about them.

Breast cancer originates in breast tissue. Its caused by changes, or mutations, in breast cell DNA. These mutations cause cells to grow abnormally and divide quicker than healthy cells do. The abnormal cells accumulate, forming a malignant breast mass, also known as a lump.

Your immune system may be able to successfully fight some abnormal cells. but the ones that continue to grow may spread, or metastasize, throughout the breast to the lymph nodes or other parts of the body.

When breast cancer spreads, the malignant tumors it causes in other places are still referred to as breast cancer.

What exactly triggers DNA changes in breast cells isnt clear. Two people can have the same or similar risk factors, but only one might develop breast cancer.

Age is the most significant risk factor for breast cancer. Most breast cancer cases are diagnosed in people over 55 years old.

But your genetics and external factors, like smoking, also have an impact. Genetic risk factors cant be changed, but lifestyle choices that put you at higher risk can be altered.

Its also likely that for many people, multiple risk factors both genetic and environmental have an impact when several are present.

People born with a vagina are at a significantly higher risk for getting breast cancer than those born without one. According to the Centers for Disease Control and Prevention (CDC), only about 1 in every 100 cases of breast cancer diagnosed in the United States is in a man.

You can inherit a gene mutation that puts you at higher risk for breast cancer from either biological parent. About 5 to 10 percent of all breast cancer cases are caused by hereditary gene mutations. The most common type is a mutation in the BRCA1 or BRCA2 gene.

If you have a BRCA1 or BRCA2 gene mutation, your risk for ovarian cancer is also increased.

There are other inherited gene mutations that can increase your risk as well, including:

If you have several close relatives with breast cancer, you may be more likely to develop it. This is especially true if you have one or more first-degree relatives with breast cancer. A first-degree relative is anyone you share at least 50 percent of your genetics with, like a parent or child.

Having a family history of breast cancer may mean you share the same genetic mutation. But there are other potential explanations here that have nothing to do with genetics.

For example, it may mean you share lifestyle choices that put you at greater risk. It may also be caused by environmental factors, like living in an area where chemical exposure, air pollution, or water pollution levels are high.

You may be more likely to develop ER-positive breast cancer if you began menstruating at a younger age or started menopause later than usual. This is because theres a longer period of time when breast cells are affected by estrogen and possibly, progesterone.

Never having given birth also increases your lifetime exposure to estrogen.

If you have given birth, every 12 months that you nurse your child reduces your chance of getting breast cancer by about 4.3 percent.

Smoking cigarettes and using nicotine products modestly increases the risk for breast cancer. The younger you were when you started smoking, the greater your risk. Smoking also increases your risk to a greater degree if you have a family history of the disease.

The International Agency for Research on Cancer has determined that alcohol is a carcinogen thats causally related to breast cancer risk.

The greater your alcohol intake, the higher your risk may be. But even one drink per day increases risk in both premenopausal and postmenopausal women.

Toxins and chemicals can be found in:

Some toxins are known as endocrine disruptors, or endocrine disrupting compounds. These toxins can mimic the effects of estrogen in the body and may increase breast cancer risk. Endocrine disruptors include:

Certain foods may increase your risk of breast cancer. Foods to limit or avoid include:

Because fat cells produce estrogen, being overweight or obese can be a significant risk factor as is having a sedentary lifestyle, which may contribute to increased weight.

Women whove previously had breast cancer or are postmenopausal have an even higher risk if theyre overweight or are living with obesity.

Hormonal birth control, including the pill, ring, and IUD, may increase your breast cancer risk slightly. This may be greater if you use hormonal birth control for 5 years or more. If you have a family history of breast cancer, your risk may be higher.

Hormone replacement therapy (HRT) poses a much greater risk. HRT isnt recommended for symptom relief of menopause in people who have other risk factors for breast cancer.

Early detection wont stop you from getting breast cancer, but it can help to ensure a better outcome. Talk with a doctor about how often you should get a mammogram. If you have dense breasts, getting regular ultrasounds may also be beneficial.

Adjustments to your lifestyle may also help. These include:

The following tips may aid with recovery and with avoiding breast cancer recurrence:

Breast cancer is caused by mutations in breast tissue cells. The underlying risk factors for breast cancer include genetics, environmental toxins, and lifestyle factors, but a definite cause hasnt been identified.

Make proactive choices to reduce your risk of breast cancer. These include cutting down on smoking and alcohol use, as well as maintaining a healthy weight.

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Breast Cancer Causes: Genetics, Prevention, and More - Healthline

EAST HANOVER, N.J., June 3, 2021 /PRNewswire/ -- Novartis today reported the final analysis from the NETTER-1 phase III study comparing treatment using Lutathera (INN: lutetium (177Lu) oxodotreotide / USAN: lutetium Lu 177 dotatate) plus 30 mg octreotide LAR to 60 mg of octreotide LAR in patients with midgut neuroendocrine tumors. The previously reported primary analysis of the trial demonstrated a statistically significant improvement in progression free survival (PFS) (HR: 0.18*, p < 0.0001)3. In the final analysis of overall survival, a secondary objective of the trial, treatment with Lutathera resulted in a clinically relevant prolongation in median overall survival of 11.7 months [48.0 months (95%CI: 37.4-55.2) compared to the control arm (36.3 months (95%CI: 25.9-51.7)]1.While this analysis did not reach statistical significance (Hazard ratio for OS (HR): 0.84 with 95% CI: (0.60, 1.17) (p=0.30, two-sided))1, the analyses of overall survival may have been impacted by multiple factors, including the crossover of patients from the control arm receiving subsequent radioligand therapy (36% of patients) as well as heterogenous subsequent anti-cancer treatments in both study arms1.No new safety signals emerged in the final analysis1. These results will be presented during the 2021 American Society of Clinical Oncology (ASCO) Annual Meeting on June 4.

Jonathan Strosberg, MD, Principal Investigator and Associate Professor, Section Head, Neuroendocrine Tumor Program at Moffitt Cancer Center, said, "Lutathera plus long-acting octreotide was associated with a nearly 12-month difference in median overall survival compared to high-dose long-acting octreotide in these difficult to treat patients with inoperable midgut NETs progressing under standard dose octreotide LAR treatment.While not statistically significant, I consider this difference to be clinically relevant for these patients. It is also important to emphasize that PFS was the primary endpoint of this study.Moreover, 36% of patients in the control arm crossed over to receive subsequent radioligand treatment, which may have impacted the comparison of survival between both study arms."

"We are proud of our 30-year legacy as an innovator for patients in the neuroendocrine tumor community," said John Tsai, Head of Global Drug Development and Chief Medical Officer for Novartis. "Since its approval by the European Commission in 2017 and the FDA in 2018, Lutathera has been administered to more than 9,000 gastroenteropancreatic neuroendocrine tumor (GEP-NET) patients in Europe and the United States1. We believe in the potential of targeted radioligand therapy and are investing in new discovery and expansion of this important platform, including exploration of new radioisotopes and combinations with complementary mechanisms of action, such as immunotherapy and inhibitors of DNA damage response."

At this final analysis, no new safety signals emerged in the long-term safety follow-up with a median of 6.3 years. In terms of secondary hematological malignancies, no new cases of MDS or acute leukemia were reported in the long term follow up4.

Radioligand therapy combines a targeting compound that binds to receptors expressed by tumors and a radioactive isotope, causing DNA damage that inhibits tumor growth and replication and may lead to cell death5-7. In the case of Lutathera, it binds to somatostatin receptor type 2, which is over-expressed on certain types of cells, such as gastroenteropancreatic neuroendocrine tumor cells8,9.

Novartis has established global expertise and specialized supply chain and manufacturing capabilities across its network of four radioligand therapy production sites, and is further increasing capacity to ensure delivery of future targeted radioligand therapies to patients in need. Novartis is the only pharmaceutical company which is pursuing four different cancer treatment platforms. These include targeted radioligand therapy, cell and gene therapy, targeted therapy and immunotherapy, with an opportunity to combine these platforms for the best outcomes for each cancer patient.

Visithttps://www.hcp.novartis.com/virtual-congress/a-2021/for the latest information from Novartis, including our commitment to the Oncology community, and access to our ASCO21 Virtual Scientific Program data presentations (for registered participants).

* HR: 0.21 (0.13, 0.32) in the US Package Insert

About NETTER-1NETTER-1 is a Phase III international, multicenter, controlled, randomized study that compared treatment using Lutathera every eight weeks plus best standard of care (octreotide LAR 30 mg) to 60 mg of octreotide LAR (dosed every four weeks) in patients with inoperable midgut NETs progressing under standard dose octreotide LAR treatment and overexpressing somatostatin receptors3.

The primary endpoint was to compare the progression-free survival (PFS) after treatment with Lutathera plus octreotide LAR 30 mg versus octreotide LAR 60 mg using RECIST 1.1 criteria3. Secondary trial endpoints included comparing objective response rate, overall survival, time to tumor progression, duration of response and safety between the two study arms3.

About GEP-NETs Neuroendocrine tumors (NETs) are a type of cancer that originate in neuroendocrine cells throughout the body. NETs are commonly considered slow-growing malignancies. However, some NETs are associated with rapid progression and poor prognosis10-11. In many cases, NET diagnosis is delayed until patients have advanced disease12. Symptoms such as fatigue, diarrhea, and abdominal pain can occur on a daily basis13. Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are subdivided into two categories: tumors of the gastrointestinal (GI) tract and pancreas14. There is a need for additional treatment options for inoperable or advanced GEP-NET, including those who have progressed while taking first-line somatostatin analogs.

The estimated age-adjusted incidence, or rate of new cases of NETs in the United States is approximately 6.98/100,000 per year (as of 2012), while the estimated 20-year limited-duration prevalence for 2014, based on the National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) database, was 171,32111. Even though NETs have historically been considered to be rare (orphan disease), their incidence has grown over 500% over the last 3 decades 10,11,12,15.

About LutatheraLutathera (lutetium Lu 177 dotatate) is an Advanced Accelerator Applications product approved in the United States for the treatment of somatostatin receptor-positive gastroenteropancreatic neuroendocrine tumors (GEP-NETs), including foregut, midgut and hindgut neuroendocrine tumors in adults16.

Lutathera (lutetium (177Lu) oxodotreotide) is also approved in Europe for the treatment of unresectable or metastatic, progressive, well differentiated (G1 and G2), somatostatin receptor positive gastroenteropancreatic neuroendocrine tumors (GEP-NETs) in adults3.

Important Safety InformationLUTATHERA(lutetium Lu 177 dotatate) is a prescription medicine used to treat adults with a type of cancer known as gastroenteropancreatic neuroendocrine tumors (GEP-NETs) that are positive for the hormone receptor somatostatin, including GEP-NETs in the foregut, midgut, and hindgut.

LUTATHERA is associated with some serious safety considerations, and in some cases these may require a healthcare provider to adjust or stop treatment. Treatment with LUTATHERA will expose patients to radiation which can contribute to long-term radiation exposure. Overall radiation exposure is associated with an increased risk for cancer. The radiation will be detectable in urine for up to 30 days following administration of the drug. It is important to minimize radiation exposure to household contacts consistent with good radiation safety practices as advised by your healthcare provider. Treatment with LUTATHERA increases the risk of myelosuppression, a condition in which bone marrow activity is decreased, resulting in a drop in blood cell counts. You may experience blood-related side effects such as low red blood cells (anemia), low numbers of cells that are responsible for blood clotting (thrombocytopenia), and low numbers of white blood cells (neutropenia). Speak with your healthcare provider if you experience any signs or symptoms of infection, fever, chills, dizziness, shortness of breath or increased bleeding or bruising. Other serious conditions that you may develop as a direct result of treatment with LUTATHERA include blood and bone marrow disorders known as secondary myelodysplastic syndrome and cancer known as acute leukemia. Your healthcare provider will routinely check your blood cell counts and tell you if they are too low or too high. Treatment with LUTATHERA will expose kidneys to radiation and may impair their ability to work as normal. You may be at an increased risk for kidney problems after LUTATHERA treatment if you already have kidney impairment before treatment. In some cases, patients have experienced kidney failure after treatment with LUTATHERA. Your healthcare provider will provide you with an amino acid solution before, during, and after LUTATHERA to help protect your kidneys. You should stay well hydrated before, during, and after your treatment. You should urinate frequently during and after administration of LUTATHERA. Your doctor will monitor your kidney function and may withhold, reduce, or stop your LUTATHERA treatment accordingly. In clinical studies of LUTATHERA, less than 1% of patients were reported to have tumor bleeding (hemorrhage), swelling (edema) or tissue damage (necrosis) to the liver. If you have tumors in your liver, you may be more likely to experience these side effects. Signs that you may be experiencing liver damage include increases in blood markers called ALT, AST and GGT. Your healthcare provider will monitor your liver using blood tests and may need to withhold, reduce, or stop your LUTATHERA treatment accordingly. During your treatment you may experience certain symptoms that are related to hormones released from your cancer. These symptoms may include flushing, diarrhea, difficulty breathing (bronchospasm), and low blood pressure (hypotension), and may occur during or within the 24 hours after your first LUTATHERA treatment. Your healthcare provider will monitor you closely. Speak with your healthcare provider if you experience any of these signs or symptoms. Tell your healthcare provider if you are pregnant. LUTATHERA can harm your unborn baby. Females should use an effective method of birth control during treatment and for 7 months after the final dose of LUTATHERA. Males with female partners should use an effective method of birth control during treatment and for 4 months after the final dose of LUTATHERA. You should not breastfeed during treatment with LUTATHERA and for 2.5 months after your final dose of LUTATHERA. Treatment with LUTATHERA may cause infertility. This is because radiation absorbed by your testes or ovaries over the treatment period falls in the range of exposure where temporary or permanent infertility may occur.

The most common and most serious side effects of LUTATHERA include: vomiting, nausea, decreased blood cell counts, increased liver enzymes, decreased blood potassium levels, and increased blood glucose. Talk to your doctor if you experience any of these, or any other side effects.

Tell your healthcare provider if you are taking any other medications. Somatostatin analogs and corticosteroids may affect how your LUTATHERA treatment works. You should stop taking your long-acting somatostatin analog at least 4 weeks before LUTATHERA treatment. You may continue taking short-acting somatostatin analogs up to 24 hours before your LUTATHERA treatment. Avoid repeated high doses of glucocorticosteroids during treatment with LUTATHERA.

Please see fullPrescribing Informationfor LUTATHERA.

Disclaimer

This press release contains forward-looking statements within the meaning of the United States Private Securities Litigation Reform Act of 1995. Forward-looking statements can generally be identified by words such as "potential," "can," "will," "plan," "may," "could," "would," "expect," "anticipate," "seek," "look forward," "believe," "committed," "investigational," "pipeline," "launch," or similar terms, or by express or implied discussions regarding potential marketing approvals, new indications or labeling for the investigational or approved products described in this press release, or regarding potential future revenues from such products. You should not place undue reliance on these statements. Such forward-looking statements are based on our current beliefs and expectations regarding future events, and are subject to significant known and unknown risks and uncertainties. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those set forth in the forward-looking statements. There can be no guarantee that the investigational or approved products described in this press release will be submitted or approved for sale or for any additional indications or labeling in any market, or at any particular time. Nor can there be any guarantee that such products will be commercially successful in the future. In particular, our expectations regarding such products could be affected by, among other things, the uncertainties inherent in research and development, including clinical trial results and additional analysis of existing clinical data; regulatory actions or delays or government regulation generally; global trends toward health care cost containment, including government, payor and general public pricing and reimbursement pressures and requirements for increased pricing transparency; our ability to obtain or maintain proprietary intellectual property protection; the particular prescribing preferences of physicians and patients; general political, economic and business conditions, including the effects of and efforts to mitigate pandemic diseases such as COVID-19; safety, quality, data integrity or manufacturing issues; potential or actual data security and data privacy breaches, or disruptions of our information technology systems, and other risks and factors referred to in Novartis AG's current Form 20-F on file with the US Securities and Exchange Commission. Novartis is providing the information in this press release as of this date and does not undertake any obligation to update any forward-looking statements contained in this press release as a result of new information, future events or otherwise.

About Advanced Accelerator Applications S.A. Advanced Accelerator Applications, S.A. (AAA), a Novartis company, is developing targeted radioligand therapies and precision imaging radioligands for oncology indications. We are committed to transforming patients' lives by leading innovation in nuclear medicine. AAA has a legacy as a leader in radiopharmaceutical drugs for Positron Emission Tomography (PET) and Single-Photon Emission Computed Tomography (SPECT) diagnostic imaging. For more information, please visit: https://www.adacap.com

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WEDNESDAY, May 12, 2021 (HealthDay News) -- Cora Oakley is a rough-and-tumble 4-year-old who loves gymnastics and outdoor activities, particularly if it involves bouncing on a trampoline.

It's hard to tell from looking at her that she was born without an immune system. Kids with this condition can acquire dangerous, life-threatening infections from day-to-day activities as simple as going to school or playing with friends.

"I remember asking the doctor if she was going to die, and he said to me, 'I hope not,'" remembers her mother, Chelsea Oakley, 38, of Morristown, N.J. "It was everything you didn't want to hear as a new mom."

Instead, Cora now has essentially a normal immune system, thanks to an experimental gene therapy that journeyed inside her newborn body and fixed the genetic defect that caused her immune deficiency.

The life-saving therapy utilizes a harmless, modified form of the AIDS-causing human immunodeficiency virus (HIV) to work its magic.

Cora is one of 48 out of 50 young children who were essentially cured of their severe combined immunodeficiency (SCID) using this new procedure, researchers reported May 11 in the New England Journal of Medicine.

"None of the 50 patients had any complications from the [therapy], and 48 out of the 50 restored their immunity to quite normal levels," said lead researcher Dr. Donald Kohn, a professor of microbiology, immunology and molecular genetics at University of California, Los Angeles (UCLA). "They're no longer patients. They're off all of their antibiotics. They're living normal lives."

The children all suffered from a form of immune deficiency called ADA-SCID, in which a faulty gene causes a buildup in the bloodstream of a naturally occurring biochemical called adenosine.

"Lymphocytes are particularly sensitive to adenosine, so you basically poison off the lymphocytes, and that's what results in SCID," Kohn said. Lymphocytes are the white blood cells that power the human immune system.

This particular genetic abnormality causes 10% to 15% of all cases of SCID, Kohn said.

Kids with this form of SCID are kept alive by receiving regular injections of the enzyme they cannot make that breaks down adenosine, along with a battery of other medications that take the place of their missing immune system.

Until now, the luckiest children receive a bone marrow transplant to replace their faulty immune system, but not everyone can find a donor and they have to take drugs to block rejection of the transplant. This therapy is effective in about 70% of kids with SCID, according to the U.S. National Institutes of Health.

In this new procedure, doctors remove some of a child's bone marrow and expose it to a genetically modified form of HIV into which has been cloned a normal copy of their broken gene, Kohn said.

The child undergoes chemotherapy to kill off their faulty bone marrow, and then the genetically modified cells are put back in as a replacement.

"We collect blood-forming stem cells from the bone marrow of these patients, bring them to the laboratory, use this lentiviral vector to insert this normal gene into their stem cells, and then they're given back to the patients by intravenous infusion," Kohn said.

Cora was the very last child to be treated in the clinical trial, her mom said. She had her bone marrow extracted in 2017 when she was 3 months old, and her newly corrected stem cells were reinserted into her about a month later.

As a newborn, Cora showed no signs of immune deficiency at all, Chelsea noted.

The family got a call from her pediatrician seven days after her birth, asking her to go to a pediatric hospital because her blood work came back abnormal. Further tests confirmed that she had ADA-SCID.

Following the gene therapy, Cora and her family spent a month in the bone marrow transplant unit of Boston Children's Hospital, which was closer to her home than the UCLA center that's pioneering the treatment.

"I was seeing all these little kids who have had heavy rounds of chemo, who've had bone marrow transplants and were taking all of these anti-rejection meds. Until then, I really didn't understand how incredibly fortunate we were, and how much this changed the course of Cora's life," Chelsea said.

"She didn't have to go through all of these extra steps and have all this hardship because of this gene therapy. I remember breaking down in tears and being so thankful and so sad for all these other kids, because no child should have to go through that," Chelsea continued.

The results of this clinical trial are "exciting," said Dr. Jordan Orange, chair of pediatrics at Columbia University College of Physicians and Surgeons, in New York City.

"I think this will be a platform to see cures brought to a variety of immune deficiencies not all, but certainly more than this one," Orange said. "It's my hope that many immune diseases can be cured through these types of approaches."

However, the procedure didn't have a perfect track record, which shows there is room for improvement, Orange noted.

"When you look at the 50 patients in the study, two were not cured," Orange said. "That's pretty good, that 48 out of 50 were cured, but when you're the one in 25 it didn't work for, you're still looking for a solution."

For Cora, the therapy represents a miracle, her mother said.

"She's doing great. She doesn't get any extra treatments, not anything. She's not on any prophylactic drugs. She's fully vaccinated," Chelsea said. "To this day, she has no idea. She's too young yet to know what all of this meant."

This experimental gene treatment has been licensed to Orchard Therapeutics, a London-based biopharmaceutical company, Kohn said. It will need to be approved by the U.S. Food and Drug Administration.

More information

The U.S. National Institutes of Health has more about SCID and ADA-SCID.

SOURCES: Donald Kohn, MD, professor, microbiology, immunology and molecular genetics, New York City; Jordan Orange, MD, PhD, chair, pediatrics, Columbia University College of Physicians and Surgeons, New York City; Chelsea Oakley, 38, Morristown, N.J.; New England Journal of Medicine, May 11, 2021, online

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Gene Therapy Uses HIV to Rescue Kids Born Without Immune System - HealthDay News

By Morgan C. Fitzgerald

California has one of the weakest laws in place to protect patients against the onerous and potentially dangerous practice of step therapy, according to a new study published by the Global Healthy Living Foundation.

Step therapy, also known as a fail-first requirement, can be a profit-generating treatment protocol enforced by health insurance companies under which patients must fail medications in defined tiers before receiving approval to step up to the medications prescribed by their doctors.

Insurance companies promote this requirement under the guise of ensuring that patients receive the most effective and reasonably priced drugs when in reality this practice forces patients to compromise treatment decisions and blocks access to essential medications.

Furthermore, each time patients change insurance coverage or start a new treatment, the process can start all over again. Step therapy causes immense, unnecessary patient suffering and gravely weakens individuals ability to receive the medicines prescribed to them.

In California, the current step therapy law fails to cover any of the six most common reasons for requesting an exemption to this process, such as a doctor believing that the first-step medication will be ineffective or even detrimental to their patient, among other provisions.

Im one of those people caught in the step therapy loop, having lived more than half my life with debilitating migraine.

Migraine is a complex neurological disease affecting more than 12% of the U.S. population. Symptoms commonly interfere with daily activities and can be so severe as to be disabling.

Between the ages of 12 and 21 I tried countless medications to manage migraine, but there were no migraine-specific preventative medications at the time so I was limited to off-label use of a multitude of drugs.

This included antidepressants, anxiolytics, antiepileptics, high blood pressure pills, and even a drug designed to treat dementia.

Unfortunately, these medications were not harmless. The side effects were numerous and almost as hard to manage as the disease I was trying to treat.

When I turned 21 my health took a turn for the worse, chronic migraine snowballed into a never-ending migraine attack, called intractable or refractory migraine, and I had to drop out of college and move back home.

Hunkering down in my childhood bedroom, I worked tirelessly with my doctors to try and improve my health while constantly battling with maddening insurance protocols.

In 2018, two years into my refractory migraine, a new class of medications developed specifically for migraine, calcitonin gene-related peptide (CGRP) monoclonal antibodies, hit the market.

It was exciting to have migraine-specific medications available and the listed side effects were far fewer and less severe than the medications historically prescribed to migraine patients.

However, despite the fact that I had the same insurance coverage, meaning the insurance company had documentation of every medication and treatment I had ever tried, they denied coverage.

It took numerous medical necessity forms, appeal letters, and phone calls over a six-month period to finally gain insurance coverage. It was only on this new, more expensive medication that I was able to return to being a contributing force in society, finishing school and securing a job at a major research institution.

Without access to the newest therapies, I would still be unable to work and likely on disability.

Happy ending not so fast. Over the last three years, I have changed insurance companies, tried two other CGRP medications, added treatment for a comorbid condition, and tried to add noninvasive device therapy.

With each of these events, the insurance company reset the step protocol and repeatedly delayed or entirely blocked access to the treatments that my doctors determined to be the best course of disease management.

My doctors and I are forced to repeatedly fill out reams of paperwork and spend countless hours on the phone while I suffer from disrupted, fractured treatment. This effort is daunting, costly and a risk to my health.

Most chronically ill patients do not have the stamina or resources to push for the coverage they need.

Step therapy takes medical decision-making away from patients and doctors and puts it in the hands of insurance companies.

In California, we can help chronic disease patients access the medications deemed necessary by their doctors by reforming step therapy legislation.

Thats why I am urging my community to support Assembly Bill 347. For more information about step therapy, visit the Global Healthy Living Foundations 50StateNetwork at http://www.50statenetwork.org

Morgan Fitzgerald is an Encinitas resident and volunteer patient advocate with the Global Healthy Living Foundation.

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Commentary: California is last when it comes to protecting patients' rights - Coast News

When last years Nobel prize for chemistry was awarded to biochemist Jennifer Doudna and microbiologist Emmanuelle Charpentier for their work in developing the technique of gene editing known as Crispr-Cas9 (pronounced crisper), headlines hailed their discovery as molecular scissors that would allow us to rewrite the book of life with all the complicated ethical questions that ability raises. But much of the excitement has nothing to do with visions of designer babies. The real promise of Crispr is for treating diseases caused by genetic mutations, from muscular dystrophy to congenital blindness, and even some cancers.

The first human trials of Crispr therapies are happening already, and researchers hope that they are on the brink of reaching the clinic. The speed at which Crispr research has progressed has been truly astonishing, says Doudna from the University of California at Berkeley.

Many common diseases, including heart conditions, Alzheimers and diabetes, are partly caused by genes: people who inherit the wrong variants of certain genes are more vulnerable. For many of these conditions the genetic component is complicated: many genes are involved. Other diseases, such as cystic fibrosis, might be caused by the malfunction of just one or a few genes. In that case, the disease might be cured entirely by gene editing: replacing the faulty genes with the healthy variant.

This gene therapy approach has been a goal ever since scientists first began learning how to edit genes in the 1970s. But it has never yet lived up to the hype, because editing one gene among about 21,000 others in the DNA of each of our cells is hard. It requires very accurate tools for finding the gene, snipping the DNA at that point, and then stitching in a new gene (or fragment of one) in its place.

Biologists have been able to make such edits for decades, but not precisely enough for safe clinical use. If editing is too messy or inadvertently alters other genes too, the consequences could be dire in particular, an unintended mutation could trigger cancer.

Crispr changed all that. The technique uses an enzyme molecule called Cas9, first found in bacteria, which can be reliably programmed to find its target. It carries with it a piece of genetic material called RNA, similar to DNA, which holds the sequence of the target site. When the enzyme finds the DNA sequence matching that on its RNA reference strand, it snips the DNA double helix in two. Other enzymes can then insert another piece of DNA encoding the healthy sequence, say into the break.

When the Crispr system was first reported in 2012 by Doudna, Charpentier and other researchers, the unprecedented accuracy of gene-editing it permitted quickly began to transform the possibilities for tailoring a genome the sum of an organisms DNA to order. The roles and effects of genes could be deduced by cutting them out or modifying them.

Some researchers hope we can use Crispr to boost our immune system so that it is better at destroying cancer cells

Crispr also made gene-editing more viable for medicine. The first diseases researchers are looking at, Doudna says, are those that require a simple change in a single gene and in a cell or tissue that we can target easily. As its a new and expensive approach, she adds, it makes sense to prioritise diseases for which no other treatments exist.

Some blood disorders, such as sickle-cell anaemia and beta thalassemia, fit the bill. In sickle-cell disease, a mutation in the gene for haemoglobin (the oxygen-carrying protein in red blood cells) changes the cells shape, causing problems with blood flow. In a procedure developed by a hospital in Tennessee, last year a Mississippi woman named Victoria Gray became the first person to receive an experimental Crispr treatment for sickle-cell anaemia. Blood-forming stem cells from her bone marrow were collected and treated outside her body to alter a gene involved in haemoglobin production, before being transfused back. So far the treatment seems to be successful: Gray has not needed the regular blood transfusions or hospitalisations her condition previously necessitated.

She is now taking part in trials on Crispr treatments of both sickle-cell disease and beta thalassemia conducted in Boston by Crispr Therapeutics in collaboration with Vertex Pharmaceuticals. Doudna warns, however, that the early therapies are going to be quite expensive. Lowering the cost is one of the key aims of her Innovative Genomics Institute at Berkeley. Having a cure for sickle-cell disease that few people can afford is not a solution to the problem, she says.

One great attraction of Crispr, says Niren Murthy, a bioengineer at Berkeley, is that it could be a one-shot affair. You have the treatment and the gene is fixed for good, rather than you having to return to the doctor every few months. Whats more, the gene-editing doesnt have to be particularly efficient to work. With sickle-cell disease, it appears that correcting the mutation in just 5% of a patients stem cells would be enough to have a positive clinical effect, says Doudna. Were aiming for much higher than that, of course the more you can target your treatment, the higher the efficiency.

One key advantage in treating these diseases is that its easy to get the Crispr system to the right place: the blood. For editing other tissues, the challenge is to cross the barrier between the bloodstream, where a drug would be introduced, and the cells of the tissue. If you just inject the molecular components into the blood, they get quickly degraded by the bodys immune system. Its better to load them into some tiny vehicle or vector such as synthetic particles or disabled viruses (thats how the active ingredients of Covid vaccines are delivered). But these tend to be too large to get through membranes and into tissues. The delivery problem is very large, Murthy says. If someone was able to solve it, that would open up a lot more therapeutic opportunities.

Five years ago, the prospect of correcting a single base pair that causes afatal genetic disease seemed like science fiction

Some researchers hope that Crispr can combat cancer. One approach would use gene-editing to boost our immune system so that it is better at destroying tumour cells. Such cancer immunotherapy is already showing great promise, but Crispr could make it more efficient or effective, says Doudna. The basic concept is to edit a patients T-cells [a type of white blood cell central to the immune response] and reintroduce them to the bloodstream so that they can recognise and attack cancer cells.

The first human trial for Crispr-boosted (lung) cancer immunotherapy happened in China in 2016. There have also been efforts to treat some types of blood and bone cancers this way. But its too early to say how effective the treatments are, Doudna says. Another option is to use Crispr to disable cancer cells themselves but again, the challenge is getting the gene-editing machinery into tumours. For blood cancers such as leukaemia, Murthy points out, this delivery problem doesnt arise.

Atherosclerosis (a cause of stroke and heart disease) is another important target. Some people have a genetic vulnerability to it because their cells produce too much of a protein called PCSK9, which stops a molecule called LDL cholesterol from being broken down. High levels of LDL cholesterol can create hardening of the arteries, which in turn may induce heart failure.

Cholesterol breakdown takes place in the liver, which is one of the few tissues for which good drug-delivery vehicles have been developed. That makes PCSK9-related atherosclerosis an ideal target for Crispr therapy. Last year, the US biotech startup Verve, based in Cambridge, Massachusetts, began trialling this approach, using artificial nanoparticles made from fatty lipids to ferry the gene-editing molecules to the liver. Cambridge-based Intellia, meanwhile, is exploring Crispr therapies for sickle-cell, haemophilia and some rare genetic heart conditions.

Yet another Cambridge-based gene-editing company, Editas, has begun a trial in collaboration with Dublin-based Allergan that uses Crispr to treat the most common form of inherited childhood blindness, called LCA10. Unlike the earlier sickle-cell and cancer treatments, this one introduces Crispr directly into the body in this case by injecting it, inside a virus, into the eye. The eye is a good target, Doudna says, because it has certain characteristics that make genome-editing less likely to have unwanted side-effects. Well learn a lot from this trial, she adds, and Im excited to see the results.

Murthy is working on a Crispr treatment for Duchenne muscular dystrophy, one of the most common and severe forms. It is caused by mutations of a gene that produces dystrophin, which is involved in building muscles, and results in the wasting away of muscle fibres, leading to disability and death. But he suspects that Crispr therapy may first see wide clinical use for neurological genetic conditions such as Huntingtons disease, because brain tissue turns out to be easier to edit than muscle.

Treating different diseases might demand different kinds of gene-editing. The simplest approach is to just mess up a gene so it doesnt work. When Cas9 snips a DNA strand, the cells DNA-repair machinery doesnt just stitch it together again; typically it shaves a bit off the strands, as if cleaning up the ragged ends. The rejoined gene is then generally useless and sometimes thats all you need. Some editing jobs call for a more precise molecular scalpel, however.

For most genetic diseases, precise gene correction, rather than disruption, is needed to benefit patients, says David Liu of the Broad Institute of the Massachusetts Institute of Technology and Harvard University. Over the past few years, he has developed a way of using Cas9 to make precise changes to just a single one of the molecular units called bases that encode genetic information. Sometimes, as in sickle-cell disease, thats all it takes to make a mutation dangerous. Lius so-called base editors use a modified version of Cas9 that can target DNA in a programmed way but doesnt cut it, in conjunction with other molecules that then swap a single base at the target site.

Liu and his colleagues are using their base editors to treat a devastating condition called progeria, which causes very rapid ageing and eventually death in children born with a mutation to a gene called lamin A. This too is caused by a single base change, but the mutant protein it produces can damage nearly all the cells in the body. Its not enough to just damage mutant lamin A, since the uncontrolled mixture of products that results could still be lethally toxic. You need instead to precisely correct the lone rogue base.

Lius team has done this in mice genetically altered to carry the human form of mutant lamin A. They treated the animals 14 days after birth equivalent to about age five in humans and found that the mice lived until the beginning of old age for normal mice. As we realised the extent of the disease rescue was well beyond what had been achieved before, we started freaking out, says Liu.

Five years ago, the prospect of correcting a single base pair in a living animal that causes a fatal genetic disease, with a one-time treatment of an engineered molecular machine, seemed like science fiction, he says. His team is now working with Beam Therapeutics (also in Cambridge, MA) and with Verve in Cambridge to develop these tools for clinical applications in humans; Verve is using base editors for its work on atherosclerosis.

Although Murthy says that widespread clinical use of Crispr therapies is still five to 10 years down the line, Doudna admits to being constantly amazed at how quickly Crispr genome-editing has been adopted by researchers around the world. Usually, clinical trials can take a long time, she says. So the fact that, thanks to Crispr, we have people today who appear to be cured of sickle-cell disease is surprising in the best way.

This article was amended on 23 February 2021 to clarify that the guide molecule for Crispr is simply RNA rather than mRNA.

The rest is here:
After the Nobel, what next for Crispr gene-editing therapies? - The Guardian

Fourteen-month old Fatima who was suffering from a killer disease has got a new lease of life after USD 2.1 mn treatment at Bengaluru hospital. Fatima faced a bleak future afflicted with a killer muscular disorder, but a Rs 16 crore 'revolutionary' gene therapy she underwent at a city hospital after winning a 'lottery' has given her a new lease of life.

Fatima, daughter of Mohammed Basil and Khadija from Bhatkal town in the coastal Uttara Kannada district in Karnataka, is recovering after she was given 'Zolgensma', the gene therapy at Bangalore Baptist Hospital late last month, as per a report in PTI.

She emerged "a lucky winner of a lottery" through a compassionate access programme by drug major Novartis that helped her get the costly treatment, affordable only by multi-millionaires, the hospital said.

Rs. 16 crore: Cost of injection

"The cost of this medicine is about 2.1 million US dollars, which is roughly about Rs. 16 crore," hospital Director (CEO) Naveen Thomas said. "There is gradual improvement. She is now able to move her leg. It will take time to become like a normal child," her father Basil said, as per a report in PTI.

Spinal Muscular Atrophy or SMA

The toddler was diagnosed with Spinal Muscular Atrophy or SMA, a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles.

The protein needed for this signaling is coded by a gene for which everyone has two copies --- one from the mother and the other from the father, according to Thomas.

He said a child develops this disorder only if both the copies were faulty and without treatment, this disease was ultimately fatal. But the problem is that the treatment is out of reach of most people. "Only multi-millionaires can afford it! Current treatment options range from medicines, which increase these proteins to replacing the faulty gene. Zolgensma, a gene therapy is a revolutionary treatment, which aims at curing the disease by replacing the faulty gene", he said.

"For the first time in Karnataka, Zolgensma was given at Bangalore Baptist hospital to a child who was the lucky winner of a lottery through a compassionate access programme by Novartis", Thomas said.Incidentally, the couple had earlier lost a child, who was also suffering from SMA.

"On the 21st day of the 21st year of the 21st century, the baby was given the injection, which is a one-shot cure for this rare disease, said Dr Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromuscular Specialist.

At present there were about 200 children getting treatment in the Baptist Hospital which is specialised in genetic diseases, more specifically SMA and Duchenne muscular dystrophy (DMD), said the doctor.She added that previous year alone, 38 children who were getting treatment in the hospital breathed their last in the absence of this expensive treatment.

In Fatima's case, Thomas said: It is a dream come true for doctors in this field. We hope more children receive this treatment and many such treatments will become affordable in the future."

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Lucky winner! Rs 16 crore lottery gives new lease of life to 14-month-old Fatima - Zee Business

Tech is booming, big-time. We saw its strength reflected in the stock market in 2020, despite a global pandemic. In a world gone virtual, it was a lifeline for businesses and people alike.

Seemingly overnight, COVID-19 disrupted our assumptions and forced us to become more adaptable and responsive than we had previously thought possible. Comfortable plans for the future were condensed from years into weeks, said Bill Briggs, the global chief technology officer of Deloitte Consulting, of the acceleration of digital transformation last year. While the growth was uncomfortable at best, its driven important change.

We know the future will look vastly different from today, and technology is a critical path to our tomorrow. As our next normal plays out, emerging tech will continue to reshape how we live and work. In Dallas-Fort Worth, organizations large and small are working to meet new needs and identify rising opportunities.

Heres a look at 14 major trends and some of the key players leading the innovation charge in the region.

[Image: 3disometric/iStockphoto]

Intelligent machines and smart data can transform our world. This tech trioartificial intelligence, machine learning, and data analyticsis the glue behind other trends on our list. Separately and together, they play a role in everything from public safety (Tyler Technologies) to financial services (Capital One, Goldman Sachs, JP Morgan, to name a few). Deloitte, in its 12th annual tech trends report, calls data the art of the possible. Human capacity can be augmented at scale if enterprises can move toward automation and machine-led decision making, the consultancy says. In healthcare, Pieces Technologya startup launched in 2016, spun out of Dallas Parkland Health and Hospital Systemuses cloud-based AI with natural language processing and doctor-supervised machine learning to interpret patient information to support healthier outcomes. Dallas-based Worlds, which emerged from stealth last year, announced a COVID breath-testing device using AI and high-tech sensors that provides nearly instant results. The device could have application for other outbreaks and diseases well beyond Covid-19. Texas-based Hypergiant Industries, with offices in Dallas and Austin, is launching a constellation of satellites with the United State Air Force that can update, collect, and share data in spaceon the fly. For networking and resources in these specialized fields, a local meetup group, WiMLDS, supports and promotes women and gender minorities.

[Image: istockphoto]

IoT, another synergistic cluster of technologies driven by 5G and fueled by data, is ushering in Industry 4.0. An ever-growing number of connected devices make our homes comfortable (Honeywell) and track assets across the globe (Polte). IoT and sensor-based tech has applications in every sector: industrial, healthcare, real estate, and more, according to Cisco, which offers services including remote monitoring with Industrial Asset Vision. AT&T and Microsoft also teamed on an IoT guardian device that connects to the cloudbypassing public internet. IoT Texas, a monthly meetup run by Ed Hightower, recently hosted Taubyte, which emerged from stealth with its smart computing platform.

[Photo: Rawf8/istockphoto]

Hailed as the connectivity of the future, 5G brings speed and capabilities that will boost other technologies including AI and IoT. The orders-of-magnitude performance boost that 5G promises doesnt happen very often, according to a Deloitte report last year. In DFW, youll find major players like AT&T, Verizon, and T-Mobile investing in the technology. Huawei notes 5G makes possible zero-distance computing. Earlier this year, networking pioneer DZS moved from Oakland to Plano, launching a new 5G R&D center. Ericsson also built the countrys first 5G smart factory in Lewisville, producing its first base stations that enable rapid 5G deployments. And in May, Nokia said it achieved world-record 5G speeds in its local lab.

Image: Zapp2Photo via iStock

Banking isnt the only industry that could be transformed by distributed ledger tech, according to CB Insights: Watch for law enforcement, rideshare, insurance, and gaming to be impacted. Beyond its beginnings in cryptocurrency, a virtual ledger is a secure way to store, authenticate, and protect data. This year, Dallas DLT startup Hedera Hashgraph and The Coupon Bureau took the more-than-century-old coupon industry into the digital age by creating universal digital coupons. Another startup, GreenLight Credentials, was chosen to provide its blockchain platform to the Texas College Bridge. Now more than 6,000 students will be able to electronically share records directly with colleges. In cryptocurrency, Dallas startup Zabo builds tech to help financial services companiesbanks, brokerage firms, fintechsconnect to customers crypto wallets.

[Illustration: Selim Dnmez/iStock]

Experimentation that might be too expensive (or risky) in the real world is made possible by digital twin technology that creates a digital copy of a physical object, process, or environment. This year, Jacobs created a twin of a water reclamation plant in Singapore in an R&D project, and River Logic used its supply chain tech to create a twin of multinational tobacco company Philip Morris Internationals global manufacturing footprint. UTD also formed the Digital Twin Health AI Consortium with plans to advance precision medicine. In Fort Worth, Bell opened its new Manufacturing Technology Center. The MTC, a proving ground for Future Vertical Lift aircraft, will twin itself to communicate operational details about its equipment and processes. In Plano, Siemens PMS, which announced a partnership with Team Penske to support its IndyCar series in 2018, has created digital twins of race cars allowing engineers to try out design concepts virtually to streamline designs and speed results

[Illustration: bestbrk/istockphoto]

CRISPR has revolutionized life sciences. Gene editing and genomic breakthroughs coupled with artificial intelligence could change the face of healthcare. At the North Texas Genome Center in Arlington, scientists are unlocking human DNA through genome sequencing to create databases that would inform doctors of the right care approach. During the pandemic, the center has used its testing capabilities to run up to 500 COVID tests a day to serve the campus and community. In Bedford, Nanoscope Therapeutics is advancing gene therapy using light-sensitive molecules and light-assisted gene delivery. Its mission? Giving sight to the blind. In Irving, Caris Life Sciences tech developed a Genomic Profiling Similarity Score to compare molecular characteristics of a patients tumor against Caris extensive database. Caris profiling tool for tumors uses over 6,500 mathematical models in a machine-learning algorithm. Bio North Texas, a Dallas Innovates partner organization, is a hub for connections and resources in life sciences. The nonprofit organization hosts an annual event each fall, the iC3 Life Sciences Summit.

[Image: IgorKirillov via istockphoto]

The field of smart voice, speech, and language processing lets machines recognize human language. From chatbots to Alexa and Siri, its been a game changer for how businesses interact with customers. Next-gen NLP is now being used in industrial IoT. North Texas startups are using the tech for myriad solutions: Illuma Labs offers real-time voice authentication, Briocare helps seniors age in place with the assistance of smart voice tech, and woman-owned SalesBoost uses patented voice tech to train teams with on-demand learning. Enterprises like Toyota see an application for the future of mobility, employing engineers who design, develop, and test voice recognition solutions.

[Photo: metamorworks/istockphoto]

Autonomous vehiclescars, trucks, aircraftare on the way to commercial viability. In DFW, companies in the space range from Toyota to Bell to Waymo. Autonomous activity is coming, says Hillwoods Bill Burton, and DFW is well suited to benefit from it. Driverless tech startup TuSimple recently expanded into AllianceTexas Mobility Innovation Zone. Earlier this month, Hillwood and Bell completed the first point-to-point unmanned aircraft delivery in North Texasshowing the future capabilities of commercial operations. In Dallas, FusionFlight had the first successful flight of its small-but-powerful autonomous drone with vertical take-off and landing called JetQuad, after three years of extensive development.

[Image: WhataWin/istockphoto]

Protecting computers from theft or damage to electronic data, software, or hardware became even more important in 2020 as work-from-home accelerated use of the cloud, which boosts file sharing and potential cyber-attacks. Trend Micro, a Japanese firm with its U.S. headquarters in Dallas, recently announced the worlds first security tool for cloud-native file storage. Other local firms include CRITICALSTART, HCL Technologies, QED Secure Solutions, and Jacobs. In education, UTD and SMU offer masters degrees and cutting-edge intel on stopping cyber threats.

[Photo: metamorworks via iStock]

AI tech allows computers to understand and tag images, including individual faces. Its now used in driverless cars, fintech, retail, medical diagnostics, agriculture, and more. NEC, a Japanese company with its U.S. headquarters in Irving, is an industry leader in advanced recognition systems for retail, government, and travel. Others, such as Omnigo Software, provide facial recognition for police and schools. UTD is pioneering research on racial bias in the technology. Local meetup Amplified Vision shares and creates computer vision projects.

The University of Texas at Arlington has awarded four research grants. Shown is the Buddy social robot. Photo Courtesy University of Texas at Arlington

Cobotscollaborative robots, designed to work with humans in shared spacesand robots, often used in industrial settings, are multiplying thanks in part to the pandemic. Locally, APS uses cobots to clean floors and sanitize offices. Hilti built the ceiling-hole-drilling Jaibot, and RoboKinds robots help children with autism. AT&T worked with San Antonio-based Xenex on germ-zapping robots for hospitals. Richland Hills startup MZ Motion is poised to provide some of the mechanical makings to collaborative robotics with its patented motion systems. In education, UT Arlington Research Institutes Automation and Intelligent Systems efforts focus on advanced robotics, while UTD uses robots to deliver food.

[Image: KrulUA via iStock]

Coming on strong is robotic process automation, which uses computer software robots to do mundane and repetitive digital tasks to free up employees for more complex work. Its used in many industries, including financial services, healthcare, and telecom. Plano-based ABIA uses RPA to streamline workflows. Its automation anywhere provides AI-enhanced RPA solutions. Startup Ant Brains created Krista, a conversational intelligent process RPA platform, for identity management, and more. This year, Dallas-based EPSoft RPA was used to improve COVID-related safety in the workplace.

[Illustration: DKosig/istockphoto]

Quantum computers use the principles of quantum theory to solve complex computational problems. Atos, a French company with its U.S. headquarters in Irving, is a global pioneer in building Quantum Learning Machines for commercial purposes, such as portfolio management and logistics. In education, SMU recently received a $1 million grant to advance quantum-related cybersecurity devices. A team at UT Dallas just developed a technique for atomically precise manufacturing (APM) of silicon quantum devices to scale production. Richardson-based Zyvex Labs also focuses on APM. Quantum computing has game-changing implications for cybersecurity, as well:Math will no longer protect your data, said cyber threat expert Doug Peckover, who is now co-founder of Kloke.ai, in a previous interview. Encryption that would normally take millions of years to crack could be done in seconds with a quantum computer, he said.

Adaptive3D focuses on creating strain-tolerant materials used for additive manufacturing. [Photo: Courtesy Adaptive3D]

Nanotechnology is the use of matter on an atomic or molecular scale for medical or industrial purposes. In 2020, Orthofix Medical got FDA clearance for its 3D-printed bone screw that uses a nano-surface to stabilize the joint. Coppell-based Peak Nanosystems, which closed a $25 million Series C this year, plans to expand the development of its nanolayered film used in optical lenses. OncoNano develops nanotech-enabled fluorescent probes for cancer surgery. UNT and UTA offer degrees in materials science and engineering. Alpine Advanced Materials offers a lightweight alternative to aluminum for aviation and other industries.

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A version of this story was originally published in Dallas Innovates 2021: The Resilience Issue.

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Overview What is gene therapy?

Gene therapy is an experimental treatment using genetic material to treat or prevent certain diseases. While not yet widely available, gene therapy may one day help doctors treat diseases by directly replacing the disease-causing gene.

Clinical trials are investigating gene therapy for the treatment of cancer, age-related macular degeneration and other eye diseases, certain genetic conditions and HIV/AIDS. Currently, one gene therapy medication, Luxturna, has been approved by the U.S. Food and Drug Administration (FDA) for use in the United States. Luxturna treats certain inherited retinal (eye) diseases.

Gene therapy works by replacing or inactivating disease-causing genes. In some cases, gene therapy introduces new genes into the body to treat a specific disease.

With gene therapy, doctors deliver a healthy copy of a gene to cells inside the body. This healthy gene may replace a damaged (mutated) gene, inactivate a mutated gene or introduce an entirely new gene.

Carriers, called vectors, transport these healthy genes into cells. In most cases, the vectors are modified viruses that do not cause disease. Vectors may also be certain types of bacteria or circular DNA molecules (plasmid DNA). Additional methods to package and deliver genetic material are also being actively investigated, such as the use of nanoparticles, encapsulating lipid molecules and the use of electric currents.

Injection or intravenous (IV) infusion introduces vectors into the body. In some cases, doctors collect cells from a patient, add vectors in a laboratory and return the vector-containing cells to the patients body through injection or IV infusion.

With the exception of Luxturna which has been FDA approved, doctors are still experimenting with gene therapy. The long-term safety of such treatments has yet to be determined. Some gene therapies appear to be effective in curing certain conditions. But there is not enough evidence about gene therapy as a whole to determine all the possible risks.

Some gene therapy research indicates gene therapy may worsen symptoms or cause them to last longer. Additionally, complications of certain gene therapies may include cancer, toxicity and inflammation.

Your recovery depends on which medical condition gene therapy treats. Complications can be serious and can affect your outcome.

Researchers are investigating gene therapy to treat cancer, eye diseases, some genetic conditions and HIV/AIDS. If you are interested in participating in a clinical trial involving gene therapy, speak with your doctor. Your doctor can help determine whether gene therapy might treat your condition.

The rest is here:
Gene Therapy - Cleveland Clinic

Fourteen-month-old Fatima, who was afflicted with a killer muscular disorder, is now blessed with a new lease of life after she underwent a Rs 16 crore 'revolutionary' gene therapy at a Bengaluru hospital after winning a 'lottery'.

Fatima, daughter of Mohammed Basil and Khadija from Bhatkal town in Uttara Kannada district of Karnataka, is recovering after she was given 'Zolgensma' -- the gene therapy -- at Bangalore Baptist Hospital late last month, news agency PTI reported.

She emerged "a lucky winner of a lottery" through a compassionate access programme by drug major Novartis that helped her get the treatment which is affordable only by multi-millionaires, PTI quoted hospital authorities as saying.

"The cost of this medicine is about 2.1 million US dollars, which is roughly about Rs. 16 crore," hospital Director (CEO) Naveen Thomas said.

"There is gradual improvement. She is now able to move her leg. It will take time to become like a normal child," her father Basil told PTI.

The toddler was diagnosed with Spinal Muscular Atrophy or SMA, a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles.

The protein needed for this signaling is coded by a gene for which everyone has two copies --- one from the mother and the other from the father, according to Thomas.

Thomas said a child develops this disorder only if both the copies were faulty and without treatment, this disease was ultimately fatal.

But the problem is that the treatment is out of reach of most people.

"Only multi-millionaires can afford it! Current treatment options range from medicines, which increase these proteins to replacing the faulty gene. Zolgensma, a gene therapy is a revolutionary treatment, which aims at curing the disease by replacing the faulty gene", he said.

"For the first time in Karnataka, Zolgensma was given at Bangalore Baptist hospital to a child who was the lucky winner of a lottery through a compassionate access programme by Novartis", Thomas said.

Incidentally, the couple had earlier lost a child, who was also suffering from SMA.

"On the 21st day of the 21st year of the 21st century, the baby was given the injection, which is a one-shot cure for this rare disease, said Dr Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromuscular Specialist.

At present there were about 200 children getting treatment in the Baptist Hospital which is specialised in genetic diseases, more specifically SMA and Duchenne muscular dystrophy (DMD), said the doctor.

She added that previous year alone, 38 children who were getting treatment in the hospital breathed their last in the absence of this expensive treatment.

In Fatima's case, Thomas said: It is a dream come true for doctors in this field. We hope more children receive this treatment and many such treatments will become affordable in the future."

(With inputs from PTI)

Here is the original post:
14-month-old lottery winner with killer disease gets new life after expensive therapy in Bengaluru - India Today

A gene therapy costing 16 crore is the only shot of life for nearly 200 children with Spinal Muscular Atrophy (SMA) Type 1, a rare genetic disease, in Karnataka.

Last month, the therapy Zolgensma was offered free to a 14-month-old baby from Bhatkal (Uttara Kannada) who was the lucky winner of a lottery through a compassionate access programme by Novartis, the Swiss drugmaker. This lottery is held once in two weeks for SMA children across the world and doctors at Baptist Hospital, that has a dedicated Paediatric Neuromuscular Service, are hoping more children will benefit.

The therapy is a one-time infusion that takes about an hour, Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromascular Specialist, at Baptist Hospital told The Hindu. The therapy was approved by U.S. regulators in May 2019 and has since then turned into a miracle drug for this rare disorder that destroys a babys muscle control.

SMA is a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles. The protein needed for this signalling is coded by a gene for which everyone has two copies - one from the mother and the other from the father. A child develops this disorder only if both the copies are faulty. Without treatment, this disease is ultimately fatal, said Dr. Mathew. The disease as it progresses, makes it extremely difficult for the babies to carry out basic activities like sitting up, lifting their head or swallowing milk.

Pointing out that the current treatment options range from medicines, which increase these proteins, to replacing the faulty gene, the doctor said, Zolgensma is a revolutionary treatment, which works by supplying a healthy copy of the faulty gene, which allows nerve cells to then start producing the needed protein. That halts deterioration of the nerve cells and allows the baby to develop more normally.

The drug has a 14-day shelf life and when it was sent from U.S. for the Bhatkal baby, it was stuck with customs for three days in mid-January making doctors jittery. Dr. Mathew said she had to personally meet the Customs officials to get it released. When we explained the situation to them, they immediately released it. Any further delay would have been risky. The parents have taken a house on rent and are staying near the hospital for follow up. The baby is doing fine now, she said.

Pointing out that 38 babies had succumbed to the rare disease in Karnataka in over one-and-a-half years, Dr. Mathew said most families have given up hope as they cannot afford the treatment.

The Paediatric Neuromuscular Service at Baptist Hospital is a pioneering centre in the country with a multidisciplinary team of a paediatric neurologist, paediatric neuromuscular specialist, paediatric geneticist, paediatric pulmonologist, paediatric intensivist, paediatric cardiologist and paediatric endocrinologist providing comprehensive care under one roof. This service is run in collaboration with Organisation for Rare Diseases India, a NGO.

A Bengaluru-based couple - Naveen Kumar and Jyothi - have taken to crowdfunding on ImpactGuru.com, a crowdfunding platform, to cover the cost of Zolgensma therapy for their 10-month-old baby Janish who was diagnosed with SMA.

Mr. Kumar, who works as an insurance surveyor and barely earns 30,000 a month, cannot afford the expensive treatment.

The couple were counting their babys milestones after his birth in February 2020. They caught his first smile and his first laugh but baby Janish never went past his first two milestones. The parents then rushed him to a pediatrician and from there the baby was referred to Baptist Hospital, said Dr. Ann Agnes Mathew, who has been treating the baby for the last five months.

Piyush Jain, co-founder and CEO, ImpactGuru.com, said over 22 lakh has been raised so far for baby Janish from over 1,500 donors.

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16 crore drug is the hope for SMA patients - The Hindu