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Category Archives: Gene Medicine

PGDx received FDA clearance for its genomic cancer diagnostic kit. It’s the first for a test of its kind – Technical.ly

Personal Genome Diagnostics reached a key milestone in its effort to make genomic profiling of cancer available to patients and oncologists at the local level and its the first to do so for a product of its kind.

The Canton-based company received U.S. Food and Drug Administration clearance for its diagnostic kit, called PGDx elio tissue complete. Combining chemistry performed on a DNA sample and software that automates the data analysis process, the test can perform genomic profiling of a patients tissue sample in molecular labs in a hospital. That can open up access to a level of genomic analysis that currently requires sending samples out to a faraway lab.

Its also designed to provide actionable results: The information provided could help oncologists and patients make decisions about whether targeted therapies could be a treatment option, and potentially identify opportunities to participate in a clinical trial of a new kind of treatment.

If youre a patient you want as many answers as possible in the shortest amount of time possible that could inform your treatment decisions, said Megan Bailey, who was promoted as CEO of the Canton-based company last week. Now that can be a matter of days with complete answers out of a single sample.

For many companies seeking to bring advances in healthcare, regulatory approval from the FDA is an important step that signals a product is both safe and effective. It also means the product can enter the market.

In this case, PGDx received 510(K) clearance, which is used for medical devices. That required verification and validation studies to show results, as well as verifying that results were the same no matter where the test was run, said Dr. John Simmons, who is the companys VP of translational medicine. He added that this meant working with thousands of samples, and 15,000 hours of sequencing time.

PGDx elio kits, ready to head to local labs. (Courtesy photo)

It produced a standardized test that can analyze across 35 tumor types and nine organ systems seeking specific anomalies in DNA and gene expression in more than 500 genes. Now, it is cleared for advanced cancer patients with a solid tumor.

This is the first FDA-cleared next generation sequencing diagnostic that does all of those things, Simmons said. No previous test was that comprehensive in nature.

The companys path shows how Baltimores breakthroughs can have a commercial path. Founded by Johns Hopkins researchers Dr. Victor Velculescuand Dr. Luis Diaz,the company raised a$75 million investment roundin 2018 led byBristol-Myers SquibbandNEA,and has also expanded its footprint to a second location in Brewers Hill. Bailey said the company is very proud to be a fledgling company from Baltimore that became the first to receive clearance in the market.

Along the way, the team has been motivated throughout to meet the need among patients, as Bailey said less than 20% get a genomic-level profile.

Our mission here is to empower the fight against cancer, she said. Fighting is the best shot at beating it and thats why this clearance is so exciting and significant to us.

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PGDx received FDA clearance for its genomic cancer diagnostic kit. It's the first for a test of its kind - Technical.ly

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More Than Meets the Eye: Veterinary Ophthalmologist Wendy Townsend Focuses on Animal Eye Conditions – Purdue Veterinary News

Friday, May 1, 2020

At least 2 billion people around the world have vision problems but how do you know if and when your pet is struggling with its own eyesight? Its a good question, especially in a year numbered 2020.

Dr. Wendy Townsend, associate professor of ophthalmology in Purdue Veterinary Medicines Department of Veterinary Clinical Sciences, has focused her career and research in veterinary medicine on diagnosing and treating eye conditions in animals. The most common question I get is if we fit animals with glasses, Dr. Townsend says. While thats not what we do, our goal is to help animals see better and improve their quality of life if theyre having issues.

Although her patients span a variety of species, her research is focused on a particular breed of dog that reigns as one of the most popular dog breeds in America: golden retrievers. Golden retriever pigmentary uveitis is a disease almost exclusively found in purebred golden retrievers. Its an inherited form of uveitis (inflammation of the uveal tract, which includes the iris). And though the disease is inherited, the onset and diagnosis usually occurs when the dogs are older.

The disease can often result in blindness due to cataracts and glaucoma, and there are no current methods to prevent or reverse it. Mild symptoms, such as redness and drainage, usually dont appear until the dog is around eight years old and can progress to an advanced stage before dogs see a veterinarian, Dr. Townsend says. The disease affects about 10% of senior golden retrievers.

Dr. Townsend is leading a study that is trying to identify the gene that causes the disease. If the gene can be identified, the disease can be detected earlier, and breeders will be able to identify which of their dogs might be carriers and how they can keep the disease from being passed on to future generations.

The problem breeders are facing right now is that even if theyre being responsible and making good decisions, they dont know their dog is affected, Dr. Townsend says. They can be several generations down their pedigree before they know theres a problem.

Dr. Townsend grew up owning golden retrievers and was completing her residency in veterinary ophthalmology when the disease was first recognized. It was bizarre because nobody could understand why it was happening in this specific breed, Dr. Townsend says. But since I loved golden retrievers and had a passion for ophthalmology, it seemed like a natural fit.

And although the disease presents itself primarily in purebred golden retrievers, Dr. Townsend explains that it can appear in some crossbreeds especially Labrador and golden retriever crosses. That becomes a concern because Labrador and golden crosses are frequently used as seeing-eye dogs, Dr. Townsend says. And because the disease doesnt show symptoms until these dogs are older, they could be struggling with their own vision and you might not even know.

Thats why Dr. Townsend says having dogs screened especially service dogs is critical. The earlier you can catch something, the better, Dr. Townsend says. That goes for all vision problems with any animal.

As a veterinary ophthalmologist, Dr. Townsend says its not uncommon for her to see dogs from across the country affected by golden retriever pigmentary uveitis. In addition to those patients, she commonly sees animals with corneal ulcers (scratches on the eye), cataracts, and glaucoma. Her patients include mostly dogs, horses, and cats but she also has treated penguins, tigers, and other exotic species.

And although she doesnt fit animals with glasses, she has fitted a dog or two with contact lenses. Theyre usually dogs that participate in agility and have trouble focusing or struggle with nearsightedness.

Sometimes animals struggle with the same eye problems that people do. Theyre just not as good at telling us when something is wrong, Dr. Townsend says. She consistently encourages pet owners to be cognizant of their pets eye health for that very reason.

Animals are good at compensating when something isnt working right. So if one eye is bothering them, theyll just rely more heavily on the other eye, Dr. Townsend says. And most of our pets dont need to have super-sharp vision to lead normal everyday lives. But in some cases like with dogs that participate in agility being able to focus both near and far is important.

As Dr. Townsend continues her mission to solve the mystery behind golden retriever pigmentary uveitis in addition to seeing her patients she hopes she can build some awareness around the field of ophthalmology. The eye might be small, but its a powerful organ that we all use and it allows me to work across a wide variety of species, Dr. Townsend explains. I frequently have clients tell me, I had no idea this was an option, or, I didnt know there were eye doctors for dogs. The impact this field can have on our patients and their quality of life can be significant.

Dr. Townsends work is supported by the American Kennel Clubs Canine Health Foundation.

Writer(s): Abbey Nickel, Purdue News Service, and Kevin Doerr | pvmnews@purdue.edu

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More Than Meets the Eye: Veterinary Ophthalmologist Wendy Townsend Focuses on Animal Eye Conditions - Purdue Veterinary News

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What Do Your Genetics Have to Do With Your Chances of Dying From Coronavirus? – Vanity Fair

Six weeks ago, with little fanfare, a network of geneticists launched an obscure but potentially game-changing initiative. Their aim: to learn why people with particular DNA profiles end up dying from the coronavirusor completely avoiding its effects. Ultimately, they want to devise ways for scientists to cook up new therapies that might alter how our nanosize genes operate as a way of reversing or accelerating the pathogens progress. Called the COVID-19 Host Genetics Initiative, the project now involves close to 700 scientists and researchers, worldwide, who are busily comparing DNA data from pandemic victims to literally millions of existing DNA profiles of millions of people.

To appreciate how our genes might be impacted by the onslaught of COVID-19, imagine this: that a tiny, invisible bug is hovering over the surface of a cell inside your bodysay a lung cell. You dont know it yet, but youve just been infected with SARS-Cov-2. Maybe it came from that jogger who whizzed past you on the sidewalk, or that tabletop you touched before rubbing your eyes. Whatever its source, there it is, circulating inside you: a fuzzy, sphere-shaped pathogen thats less than 1/1000 the width of a human hair. Prickly, with spikes on its outside, its searching for a place to plug into and enter your cell. Its a little like a key and a lock, where the key (the virus) wants to slip into the keyhole (a receptor on the cell) and then release a payload that will be up to no good.

Except that, in some people, the virus-key doesnt fit the lock and is blocked from entering the cell. In others, it slips right in, leading to illness and sometimes to rapid deterioration and even death. One potential differencesay geneticists who are working day and night to better understand how SARS-Cov-2 invades and attacks our cellsmight be because your DNA code differs from mine. Yours might inherently spurn the virus at the cellular level; mine might make me more susceptible.

So what determines who gets dangerously sick? We know that people who are older and have underlying diseases like diabetes and heart disease are at higher risk for having a bad response to COVID-19, explained Mark Daly, a 52-year-old geneticist and the director of the Institute for Molecular Medicine in Helsinki, Finland. Other factors include higher risk biases that involve ethnicity, class, vocation, geographic location, and the medical resources available at the time of treatment. And yet, according to Daly, this doesnt explain why relatively healthy people, including young people, are sometimes having severe and life-threatening reactions such as very high fevers, pneumonia, and difficulty with breathing that requires oxygen and sometimes a ventilator. Most likely this has something to do with differences in their genes.

Daly should know. With his Paul Reverelike ponytail, circular hippie glasses, and lean, determined face, hes a pioneer of modern genetics who was a key player during and after the Human Genome Project, the huge international effort in the 1990s and early 2000s that sequenced the first-ever human genome. And as the pandemic has been raging, Daly, a physicist, decided to help spearhead a remarkable hive-mind effort: the COVID-19 Host Genetics Initiative.

The project was announced on March 16 in a tweet posted by Dalys cohort Andrea Ganna: Goal: aggregate genetic and clinical information on individuals affected by COVID-19. The response was immediate. Within days, scientists from over 150 organizations in more than 30 countries on six continents agreed to join. Thats the ideal use of the hive mind: a conglomeration of big brains and, in this case, their disparate data sources, to solve one huge problem. Participants have come not only from Harvard and MIT (institutions with which Daly has ongoing affiliations) and the usual institutional suspects in North America, Europe, and the wealthier Asian countries, but also from the Qatar Genome Program, Vietnams SARS-Cov-2 Susceptibility Program, and CLHORAZbased in Burkina Faso.

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Drug-gene testing could give experts insight into COVID-19 treatment – ModernHealthcare.com

While researchers are working to advance drugs to treat COVID-19 and vaccines to give people immunity against the virus, the mental health impact of the pandemic will also have to be managed. This is where PGx testing may be most useful, experts in the field said.

"It is worthwhile to consider not just the utility of PGx in preventing hospitalization or changing the course of COVID-19 care," but also the impact it could have on managing "the burden on the patients that do survive a COVID-19 infection [and] those that are suffering from the isolation of social distancing, as well as the financial hardships," said David Thacker, a clinical pharmacogenetics content specialist at Translational Software.

According to a recent JAMA editorial, during the SARS outbreak in 2003, there was a greater incidence of post-traumatic stress syndrome and psychological distress among patients and doctors. In communities impacted by Hurricane Ike in 2008, around 5% of individuals met the criteria for major depressive disorder, while one in 10 adults in New York City had symptoms of the disorder after 9/11.

"In the context of the COVID-19 pandemic, it appears likely that there will be substantial increases in anxiety and depression, substance use, loneliness, and domestic violence; and with schools closed, there is a very real possibility of an epidemic of child abuse," wrote Sandro Galea from Boston University School of Public Health, Raina Merchant from the Perelman School of Medicine, and Nicole Lurie from the Coalition for Epidemic Preparedness Innovations in Norway.

A survey in March by the American Psychiatric Association found that more than a third of polled individuals said that the pandemic was seriously impacting their mental health, nearly half said they were scared about getting the virus, and 62% said they feared a loved one would get it. Meanwhile, calls to substance abuse and mental health help lines increased eightfold from February to March.

As the pandemic continues, people may increasingly turn to medications to deal with the psychological wounds left by the pandemic. Drugs to treat mental health conditions, including major depressive disorder, are some of the most widely prescribed drugs in the U.S., but they're also highly variable and associated with unwanted side effects.

As such, one of the main areas where PGx testing has seen uptake is for personalizing psychiatry drugs. Myriad Genetics recently published a meta-analysis involving more than 1,500 patients with major depressive disorder who were enrolled in four studies, which showed that patients who received treatment based on PGx information had significantly better outcomes than those who did not.

Although PGx testing in psychiatry is not without its naysayers, doctors may reach for such testing if the use of mental health drugs increases during or after the pandemic. Genomind, a mental health-focused PGx testing company, recently took a number of steps to make it easier for physicians to deliver psychiatric care during the pandemic. Doctors can order Genomind's PGx test and send a saliva collection kit to patient's homes, which can then be mailed to the lab for analysis. Through Genomind, doctors also have access to Sharecare's HIPAA-compliant telemedicine platform for free until September, which they can use to remotely see patients and discuss PGx test results, if ordered.

"The utility of PGx during the COVID-19 crisis is more important than ever," a spokesperson for the company said. "This service is helping enable critical mental health treatment during the pandemic and Genomind is doing its best to enable as many mental health professionals as possible."

This story first appeared in our sister publication, Genomeweb.

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Vertex Receives European CHMP Positive Opinion for KALYDECO (ivacaftor) for Children and Adolescents With Cystic Fibrosis Between the Ages 6 Months…

LONDON--(BUSINESS WIRE)-- Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that the European Medicines Agencys (EMA) Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion for the label extension of KALYDECO (ivacaftor), to include the treatment of children and adolescents with cystic fibrosis (CF), ages 6 months and older weighing at least 5 kg who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Todays announcement is important for young people with CF, as early intervention and treatment of this devastating and progressive disease is key to keeping patients healthier longer, said Carmen Bozic, M.D., Executive Vice President and Chief Medical Officer at Vertex. This milestone also brings us one step closer to achieving our ultimate goal of bringing medicines forward to all people with CF.

The European Commission will now review the CHMPs positive opinion, and should they issue a favorable adoption, KALYDECO (ivacaftor) will be the first and only approved medicine in Europe to treat the underlying cause of CF in patients ages 6 months and older with the R117H mutation. In countries where long-term reimbursement agreements have been secured, KALYDECO (ivacaftor), if approved, would be available to eligible patients shortly after Marketing Authorization. In Germany, the medicine would be available at Marketing Authorization. In all other countries, we will work closely with relevant authorities in Europe to secure access for eligible patients quickly.

In Europe, KALYDECO (ivacaftor) is already approved for the treatment of people with CF ages 18 and older with the R117H mutation, and children ages 6 months and older weighing at least 5 kg who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.

About Cystic Fibrosis

Cystic Fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

About KALYDECO (ivacaftor)

Ivacaftor is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, Dr. Bozics statements in the second paragraph of this press release, and statements regarding our expectations for the approval and availability of KALYDECO in Europe, and our plans for securing access to KALYDECO for eligible patients in Europe. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, risks related to obtaining and commercializing KALYDECO in Europe, and other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

View source version on businesswire.com: https://www.businesswire.com/news/home/20200501005167/en/

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Vertex Receives European CHMP Positive Opinion for KALYDECO (ivacaftor) for Children and Adolescents With Cystic Fibrosis Between the Ages 6 Months...

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Today’s Recommended Read: "The Gene: An Intimate History" by Siddhartha Mukherjee – Chicago Daily Herald

Siddhartha Mukherjee's "The Gene: An Intimate History" is a wonderful book to read at any time. During the COVID-19 pandemic, it may have even greater appeal.

The book is not just informative, it's also entertaining. And poetic. And personal. And, perhaps above all, accessible.

Mukherjee, the Pulitzer Prize-winning author of "The Emperor of All Maladies: A Biography of Cancer," makes an incredibly complex subject simple enough that even I can understand what he's saying. And he does it with a mixture of styles and approaches. He includes scientific descriptions. He reaches back to Aristotle and Plato for historical context. He tells compelling narrative stories about situations that led to advances in the understanding of what genes are and how they work. He discusses how genetic issues have played roles in his own life and family.

Within all this, he also portrays the ethical quagmires and quandaries that have emerged with advances in fields of medicine, psychiatry and human development as we've learned how to manipulate genes. Finally, he also clearly demonstrates how much more remains to be learned, and he ignites the imagination with the astounding array of possibilities -- inspiring as well as frightening -- that lie ahead.

"The Gene" is a masterful success on every one of the many levels of literary, historical, scientific and philosophical thought it engages. It is both deeply pleasurable to read and powerfully educational.

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Today's Recommended Read: "The Gene: An Intimate History" by Siddhartha Mukherjee - Chicago Daily Herald

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