Category Archives: Genetic medicine

Rheumatoid arthritis (RA) is a chronic, progressive autoimmune disease that can affect the hip joint. It can cause pain, stiffness, and restricted movement in one or both hips.

A person may experience hip pain on both sides of the body.

In this article, we look at how RA affects the hip. We also discuss its causes and symptoms and outline treatment options for managing the condition.

RA is a type of inflammatory arthritis, which occurs when an overactive immune system attacks healthy tissue in the body.

The hip joint consists of a ball and socket. The acetabulum, which is part of the pelvis bone, forms the socket. The femoral head, which is the top part of the thighbone, forms the ball.

A tissue called articular cartilage covers the surfaces of the ball and socket. This cartilage provides a smooth, slippery surface to allow the bones to move easily.

The hip joint also has a thin, protective covering called synovium. The synovium releases a lubricating fluid that allows better movement.

In people with RA, the synovium does not function properly. It becomes thicker and swollen and produces substances that attack the articular cartilage surrounding the hip joint.

RA usually affects smaller joints in the body to start with, such as in the hands and feet. As the condition progresses, it can spread to one or both hips.

According to the American Academy of Orthopaedic Surgeons (AAOS), people may experience RA symptoms in both hips. This is because RA typically affects the same joint on both sides of the body.

Symptoms of RA in the hip include:

Symptoms of RA may come and go. The Arthritis Foundation (AF) notes that joint pain or stiffness that lasts for 6 weeks or more and joint stiffness in the morning that lasts for 30 minutes or more may be a sign of RA.

RA can also affect other areas of the body. People may experience dull, aching pain in the:

People can also experience more general symptoms, including:

Osteoarthritis (OA) is another type of arthritis that can develop in the hip.

OA is the most common type of arthritis and occurs when the cartilage around the hip wears down. This causes the bones to rub together, creating uncomfortable symptoms and restricted movement.

OA leads to pain and stiffness in the hip and can cause difficulty walking. Other symptoms of OA that differ from those of RA include:

Experts are currently still unsure why the body attacks healthy tissue and causes RA.

Researchers believe genetic factors could play a role in the development of RA. People with the condition may have genes that respond to environmental triggers, such as viruses, bacteria, or stress.

The AF notes that a person is more likely to develop RA if they have a family member with the condition. It also seems to affect females more often. However, there is no known reason for this.

People can discuss a treatment plan with a healthcare professional. A combination of treatments may be the most effective at managing RA symptoms.

Medication may help manage pain and reduce inflammation in the body.

A doctor may recommend:

If RA does not respond to other treatments, people may require surgery. There are two main types of surgery for treating RA of the hip:

During total hip replacement, a surgeon will remove the damaged cartilage and bone of the hip joint. They will then use a metal or plastic joint to replace the ball-and-socket joint.

Total hip replacement surgery can help alleviate pain and increase the range of motion of the hip joint.

Synovectomy involves removing all or part of the synovium. The procedure may be suitable for people with RA that has only damaged the joint lining, rather than progressed to the cartilage and bone.

Physical therapy may help increase freedom of movement and the range of motion in the hips.

Specific exercises may also help strengthen the muscles surrounding the hip, which in turn supports the hip joint.

Learn more about exercises for RA pain here.

Alternative treatment options include:

People may want to try acupuncture or acupressure to address their RA symptoms.

Acupuncture involves inserting small needles into specific points of the body to relieve pain.

Acupressure is a similar technique, but it uses firm pressure rather than needles to target specific points in the body.

People may find that massage helps relax muscles and reduce pain, stress, and anxiety.

Relaxation techniques, such as deep breathing and meditation, may help relax the body and lower stress.

People can also take time to do activities they enjoy to relieve stress and support emotional well-being.

Certain supplements such as omega-3 and curcumin, which is a compound present in turmeric may help relieve pain and morning stiffness.

People should consult a healthcare professional to check whether it is safe for them to take a supplement.

Some traditional Chinese medicine (TCM) herbal remedies may help slow the progression of RA:

It is important to note that research into herbal medicine is limited. Moreover, the National Center for Complementary and Integrative Health states that high quality studies on TCM herbal products are lacking.

It also states that a person should consult a healthcare professional before using any TCM remedy, especially if they:

The following home remedies may help people manage RA symptoms and relieve pain:

Doctors may use the following to diagnose RA:

Symptoms of RA may affect areas of the body other than the hips and legs.

Other symptoms in the body can include:

RA can also cause inflammation of the heart and blood vessels, which can damage the heart muscle, nerves, and organs. People with RA may also have a low red blood cell count.

People can speak with a doctor if they have unexplained hip pain or any other symptoms of RA. An early and accurate diagnosis can help in providing effective treatment for the condition.

A doctor may refer people to a rheumatologist, who is a doctor specializing in inflammatory conditions developing in the joints, tendons, ligaments, bones, and muscles.

RA causes inflammation of the hip joint. It can result in pain, stiffness, and difficulty with movement.

A combination of treatment options, including medication, home remedies, and alternative treatments, may help manage symptoms and relieve pain.

More here:
Rheumatoid arthritis in the hip: Symptoms and management - Medical News Today

Visit the News Hub

International clinical trial yields mixed results with unclear cognitive effects but promising biomarker results

Randall Bateman, MD, director of the Dominantly Inherited Alzheimer Network-Trials Unit (DIAN-TU), an ongoing international clinical trial to evaluate experimental Alzheimers drugs, speaks with DIAN-TU participant Taylor Hutton. One of the drugs tested in the DIAN-TU, gantenerumab, improved biomarkers of disease despite unclear cognitive effects, prompting study leaders to offer participants the option of continuing to receive the drug and participate in follow-up examinations as part of a so-called open label extension.

An investigational Alzheimers drug reduced molecular markers of disease and curbed neurodegeneration in the brain, without demonstrating evidence of cognitive benefit, in a phase 2/3 clinical trial led by researchers at Washington University School of Medicine in St. Louis through its Dominantly Inherited Alzheimer Network-Trials Unit (DIAN-TU). These results led the trial leaders to offer the drug, known as gantenerumab, to participants as part of an exploratory open-label extension. The researchers continue to monitor changes in measures of Alzheimers disease in those participants who are receiving the drug.

The DIAN-TU study (ClinicalTrials.gov Identifier: NCT01760005), published June 21 in Nature Medicine, evaluated the effects of two investigational drugs gantenerumab, made by Roche and its U.S. affiliate, Genentech, and solanezumab, made by Eli Lilly and Co. in people with a rare, inherited, early-onset form of Alzheimers known as dominantly inherited Alzheimers disease or autosomal dominant Alzheimers disease. Such people are born with a mutation that causes Alzheimers, and experience declines in memory and thinking skills starting as early as their 30s or 40s.

Gantenerumab had a major impact on Alzheimers biomarkers, said principal investigator Randall J. Bateman, MD, director of DIAN-TU and the Charles F. and Joanne Knight Distinguished Professor of Neurology at Washington University. The drugs ability to shift multiple Alzheimers biomarkers toward normal indicates that it is positively affecting the disease process. The effect was strong enough that we launched an open-label extension of the trial so participants have the opportunity to stay on the drug as we continue to study it.

Over the past few decades, scientists have pieced together the changes that occur as Alzheimers develops, a process that takes 20 years or more. First, the protein amyloid beta starts forming plaques in the brain. Later, levels of tau and neurofilament light chain rise in the cerebrospinal fluid that surrounds the brain and spinal cord, and the brain begins to shrink. Then, tangles of tau protein form in the brain. Only then do people with the disease start exhibiting signs of memory loss and confusion.

In this study, 52 patients were randomized to gantenerumab, which led to a reduction in the amount of amyloid plaques in the brain, and lowered soluble tau and phospho-tau, and slowed the rise of neurofilament light chain levels in the cerebrospinal fluid. Neurofilament light chain is a marker that reflects neurodegeneration. Overall, gantenerumabs safety profile in this trial was consistent with that from other clinical trials of the investigational medicine, and no new safety issues were identified.

The primary endpoint of the DIAN-TU study was the prevention or slowing of cognitive decline in people who are nearly certain to develop Alzheimers due to genetic mutations. Neither drug met the primary endpoint, although the study wasnt able to determine effects on thinking and memory in participants who entered the study without symptoms, because they exhibited little to no decline in cognitive function. The study also was unable to assess the effects of higher doses of the drugs, which were escalated to the desired levels late in the trial after a protocol amendment. Participants who received gantenerumab started on a low dose and only started ramping up to a fivefold higher target dose about halfway through the trial, prompted by observations from other studies of gantenerumab.

However, as a secondary endpoint, the study also evaluated the effect of the drugs on molecular and cellular signs of Alzheimers disease. On these measures, gantenerumab showed potential benefit.

These biomarker results suggest that gantenerumab had a favorable impact on the target and downstream markers of Dominantly Inherited Alzheimers Disease, said Rachelle Doody, MD, PhD, global head of neurodegeneration at Roche and Genentech. We support the continued scientific investigation of gantenerumab in Washington Universitys exploratory, open-label extension study to build on learnings from DIAN-TU-001, and are grateful to be a part of this close collaboration between industry, academia and patients as we continue to tackle the complex challenge of Alzheimers disease. We are encouraged by the advancements being made and look forward to continued progress for people with Alzheimers disease.

This trial followed 144 participants for up to seven years; the average follow-up was about five years. All participants carry a genetic mutation that causes a form of Alzheimers dementia at early ages. The researchers recruited participants who were expected to develop symptoms within 15 years or who already had very mild symptoms of memory loss and cognitive decline at the trials outset. In most cases, their brains already showed early signs of disease. Participants were randomly assigned to receive solanezumab, gantenerumab or a placebo.

Although the trial focuses on people with rare mutations, drugs that are successful in this population would be promising candidates for preventing or treating the forms of Alzheimers that occur more commonly in older adults. The destructive molecular and cellular processes in the brain are similar in both types of the disease, Bateman said.

Salloway S, Farlow M, et al. A Trial of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimers Disease. Nature Medicine. June 21, 2021. DOI: 10.1038/s41591-021-01369-8

Data analyzed in this paper was obtained with the support of the National Institute on Aging of the National Institutes of Health (NIH), grant numbers U01AG042791, U01AG042791-S1, R01AG046179, R01AG053267-S1 and U19AG032438; the Alzheimers Association; Eli Lilly and Co.; Roche and Genentech, a member of the Roche group; Avid Radiopharmaceuticals; GHR Foundation; an anonymous organization; Cogstate; Signant; the German Center for Neurodegenerative Diseases; the Raul Carrea Institute for Neurological Research; the Japan Agency for Medical Research and Development; and the Korea Health Industry Development Institute.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, consistently ranking among the top medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

Originally posted here:
Investigational Alzheimer's drug improves biomarkers of the disease Washington University School of Medicine in St. Louis - Washington University...

A study from the Roslin institute published in BMC Genomics has identified genes in chickens that could offer resistance to harmful bacteria commonly found in poultry and could inform ways to limit the risk of associated food poisoning in people.

The research identified a large number of genes in chicken guts that may determine whether the birds are resistant to Campylobacter, according to the Roslin Institute.

Campylobacter causes an estimated 1.5 million illnesses each year in the United States. People can get Campylobacter infection by eating raw or undercooked poultry or eating something that touched it. They can also get it from eating other foods, including seafood, meat and produce, by contact with animals and by drinking untreated water. Although people with Campylobacter infection usually recover on their own, some need antibiotic treatment.

Specifically, Campylobacter jejuni is the leading cause of bacterial gastroenteritis in humans and the handling or consumption of contaminated poultry meat is a key source of infection. Selective breeding of poultry that exhibit elevated resistance to Campylobacter is a possible control strategy, scientists say.

Researchers studied the global transcriptional response of inbred chicken lines that differ in resistance to C. jejuni colonization at a key site of bacterial persistence. The insights from this study could inform research toward breeding chickens that are less likely to carry Campylobacter bacteria, and so limit the risk to poultry consumers.

Campylobacter is present in more than half of chicken sold, representing a significant risk to consumers, and breeding poultry resistant to the bacteria is one potential way to tackle this, said Mark Stevens, Ph. D and Personal Chair of Microbial Pathogenesis at the Roslin Institute. Our research is shedding light on how the genetic makeup of chickens influences their response to the bacteria, which could inform ways to breed poultry resistant to Campylobacter and thereby improve food safety.

Researchers tested the effects of Campylobacter infection on chickens that were bred to be resistant or susceptible to the bacteria. Analysis of gut tissue showed differences in activity of a large number of genes, including some involved in immunity, such as Major Histocompatibility Complex and antimicrobial peptides. The variation between these genes in susceptible and resistant chickens may partly explain their response to Campylobacter.

For more information about Campylobacter, please go here: about-campylobacter.com.

The Roslin Institute is a world-leading institute for animal science research and is part of the College of Medicine and Veterinary Medicine, University of Edinburgh.

(To sign up for a free subscription to Food Safety News,click here.)

See the original post here:
Roslin institute identifies genes in chickens that could offer resistance to harmful bacteria - Food Safety News

Using a multi-stranded, computer-based approach encompassing genetic and chemical information, clinical data, and the medical literature can help improve outcomes for individuals with inherited cardiomyopathy, according to an international group of researchers.

Many cardiovascular conditions have a genetic basis and inherited cardiomyopathy, where abnormal changes in the heart muscle can cause arrythmia and sudden cardiac death, is one such example. Around 1 in 500 people, have inherited cardiomyopathies, making it the most common form of genetic heart disease.

The recent collapse of Danish soccer star Christian Eriksen, likely due to such a cardiac condition, highlights the importance of early diagnosis and preventative measures for these individuals. However, while a lot is now known about the genetics of inherited arrythmias and cardiomyopathies, it is a complex area and good communication between medical geneticists, cardiologists and primary care doctors can be key to good patient outcomes.

Collating available information without help can also be difficult for clinicians. A major hurdle in adequate clinical and genetic care is that information is so dispersed across the literature. This increases the risk of misinterpretation, and leads to suboptimal care, Job Verdonschot, a researcher at the Maastricht University Medical Center who has a focus on this area, but was not involved in the current study, told Clinical OMICs.

Rameen Shakur is currently based at Massachusetts Institute of Technology and was previously a Wellcome fellow at the University of Cambridge and Wellcome Sanger Institute. He led the current study, which is published in the journal npj Genomic Medicine, which was a collaboration between researchers from the Wellcome Sanger Institute, University of Cambridge, Massachusetts Institute of Technology and Lund University.

To better assimilate genomic data into real world clinical options for the millions of patients with inherited cardiovascular diseases and their families, we require a more integrated appreciation of genetic, physical, bio-chemical and clinical data, Shakur explained in a press statement.

There is a lot of variation between individuals with cardiomyopathy in terms of disease prognosis and suitability of treatments, which can make accurate diagnosis and outcome prediction difficult for clinicians who often employ a wait and see approach.

To try and improve outcomes for patients, Shakur and colleagues created a computer-based model to better define the cardiomyopathy prognosis associated with different genetic variants impacting the function of cardiac troponin T, a protein that forms part of a complex of similar proteins that regulate and control cardiac muscle contraction. The model included genomic data and biological and chemical information about troponin function and impact on cardiomyopathy outcome.

Shakur and team also analyzed data from almost 1000 individuals included in around 100 earlier studies to help improve the accuracy of clinical outcome prediction for individuals with these mutations and to look for possible drug targets for treating these patients.

They found that there were hotspots of variation in the troponin T gene TNNT2 associated with higher or lower risk for carriers. For example, variation at regions 90130 was linked to increased risk for sudden cardiac death and variation located at regions 131179 with heart failure death and transplantation. In contrast, variation at locations 189 and 200288, was linked to lower risk outcomes.

The researchers now want to assess if new drugs to target these hotspots could be developed. The patient process in inherited cardiovascular disease, unlike oncology, has sort of lagged behind in actually getting to grips with developing personalized therapeutics, Shakur told Clinical OMICs. He explained that he and his colleagues are currently working on translating their findings into developing new more personalized therapeutics for individuals with these genetic variants.

In areas such as cardiology and oncology, where large amounts of clinical and genetic data need to be analyzed, adopting a computer-based approach, often using artificial intelligence approaches such as machine learning, can make diagnosis, outcome prediction and treatment more effective and efficient.

Verdonschot agrees that a multi-stranded and collaborative approach is key to improving patient outcomes. What is desperately needed is that working groups from professional societies, or project teams get together and produce a synthesis of all that is known to guide choices about the best personal strategies for patients. These can then be evaluated in the context of clinical trials, or observational studies.

Shakur thinks one way to improve collaboration and communication is to provide cardiologists with better training in genetics and genomics-based approaches and to continue to provide funding to academic projects with a focus on cardiovascular genetics.

He also thinks improved patient knowledge will help drive precision cardiology forward. Theres a whole new generation of patients now who understand their condition. And I think it will be an interesting few years moving forward, because now patients are more in tune with whats going on.

This study is the next step in integrating precision cardiology into clinical care, and working more closely with clinical genetics colleagues and patients with their families, bridging the gap between research and day to day treatment decisions. This research has allowed us to also open the door to potential new therapies, which we hope to introduce soon.

Read the rest here:
Multi-Stranded Approach Needed to Improve Outcomes for Inherited Heart Disease - Clinical OMICs News

Over this trying and sometimes surreal year, we have all been reminded that scientific breakthroughs are the result of committed action and, very often, enduring effort. For example, apparent rapid developments, like the COVID-19 vaccines, are built on years of careful progress and investment in understanding our immune systems.

Our mindset at Womens Health Research at Yale for the past 23 years has been committed action to uncover and use new findings to advance health, while also continuing to set the stage for the next major breakthroughs.

Right now, we are setting that stage by building a new classification strategy to better recognize heart attacks in women. We are exploring how CBD, a non-intoxicating component of cannabis largely used by women, affects the brains of women; seeking non-addictive alternatives for pain relief; determining how genetic mutations lead to breast cancer; identifying biological markers to allow the early diagnosis and treatment of colon cancer; figuring out the relationship of stress to psychological resilience in health care providers; and so much more.

Over the years, WHRY has discovered that a product of the bodys immune system associated with the disease lupus can penetrate cancer cells, offering a new path for treating cancers that develop from certain gene mutations. We were the first to test a behavioral therapy for girls with autism spectrum disorder that is now in clinical use. We demonstrated how beneficial bacteria in the body can lead to autoimmune disease, providing a promising target to advance treatment options.

We do this because todays investigations lead to both findings we can use now and to tomorrows discoveries.

It is why we build collaborations across medical disciplines, share our findings with the public and medical communities, train the next generation of researchers and medical practitioners, and establish support for data-based policies to improve the health of everyone.

All this is possible because of your generous support and commitment to better science and better lives. Thank you!

At WHRY, we often say, We dont know what we dont study. If the challenges of the past year have taught us anything, it is that we must continue working to understand all that we can about health and disease. And when it comes to sex and gender, we should not wait for the next crisis before addressing these critical components of our health.

With the greatest appreciation for your generous support,

Barbara Riley

Philanthropy Chair

See the article here:
How Your Help Can Fund the Next Discovery in Women's Health Research - Yale School of Medicine

WASHINGTON, June 22, 2021 /PRNewswire/ -- We are in a new era of medicine where groundbreaking biopharmaceutical research and development is transforming medicine, but these innovations are meaningless if they don't reach patients, including those in underserved communities. Health disparities are not new, but the COVID-19 pandemic put a spotlight on long-standing health inequities that affect diverse racial and ethnic communities in America. Data shows these populations have been disproportionately impacted by COVID-19. In fact, American Indian/Alaskan Native, Hispanic, and Black populations are approximately twice as likely to die from COVID-19, as compared to non-Hispanic whites.

Researchers have found that people with certain health conditions, including chronic conditions such as Alzheimer's disease, certain cancers, chronic kidney disease, chronic lung diseases, type 2 diabetes, heart conditions, HIV infection, liver disease, obesity, sickle cell disease and stroke, are at higher risk of severe illness or death from COVID-19. Many of these conditions are tied to health disparities that disproportionality affect racial and ethnic communities for genetic and environmental reasons, or due to inequities in social and economic conditions.

Today, PhRMA released a new report exploring the 829 medicines in development that aim to address the diseases and conditions that affect racial and ethnic communities at a higher rate and are also associated with worse COVID-19 outcomes.

Among the medicines in development to improve management of these diseases are:

It is critical that all patients, including historically underserved racial and ethnic communities, have access to medicines. One way to reduce barriers to health care access and enable everyone to benefit from new medicines is to ensure that clinical trials are diverse and inclusive and include participants representative of the population the medicine intends (or aims) to treat. The biopharmaceutical industry has been working with patients, communities, regulatory authorities, health care practitioners, academics and policymakers to enhance diversity in clinical trials, so the clinical trial population testing medicines better reflect the patients that will use the new therapies and medicines should they are approved by the U.S. Food and Drug Administration.

To this end, PhRMA and its member companies have voluntarily adopted first-ever industry-wide principles on clinical trials diversity, adding a new chapter to the already existing Principles on Conduct Clinical Trials & Communication of Clinical Trial Results.The new clinical trial diversity principles are designed to build trust, reduce barriers to clinical trial access, enhance an understanding of drug effects in diverse patient populations, and promote the sharing of information on policies and practices to increase clinical trial diversity.

Equity is critical to the health and well-being of diverse racial and ethnic communities, and it remains essential to a robust ecosystem of innovation. America's biopharmaceutical companies are pushing for necessary systemic and long-term change to better meet the needs of underserved communities in America.

To learn more about the PhRMA Equity Initiative and PhRMA's commitment to inclusion, visit https://phrma.org/Equity and tune in to The Atlantic's Health Equity Summit where PhRMA's Chief Operating Officer, Lori Reilly, and Genentech's Chief Diversity Officer, Quita Highsmith, will have a conversation about building trust in clinical trials.

Learn more about the medicines in development to address health equity here.

This post originally appeared on the Catalyst blog.

CONTACT:Andrew Powaleny,[emailprotected], 202-835-3460

SOURCE Pharmaceutical Research and Manufacturers of America (PhRMA)

https://phrma.org/

See original here:
More than 800 medicines are in development for diseases that disproportionately affect racial and ethnic communities - PRNewswire

Boston, MA, May 21, 2021 (GLOBE NEWSWIRE) -- Mass General Brigham today announced its selections for the sixth annual Disruptive Dozen, 12 emerging gene and cell therapy (GCT) technologies with the greatest potential to impact health care in the next few years. The technologies were featured as part of the World Medical Innovation Forum held virtually from Boston to examine GCTs potential to impact patient care including a range of diseases and health system opportunities.

The 2021 Mass General Brigham Disruptive Dozen are:

Researchers have pinpointed key genes involved in cholesterol and lipid metabolism that represent promising targets for new cholesterol-lowering treatments. Instead of disabling a disease-related protein, gene-silencing therapies prevent the protein from being made at all. That durability means patients could receive an injection of a gene-silencing drug every six months to control their blood cholesterol. Another transformative genetic medicine can alter the instructions written in a particular gene. Known as CRISPR base editing, this technology offers precision and potential permanence: patients may be able to undergo a one-time treatment and maintain healthy cholesterol levels for a lifetime.

Currently, devastating diseases such as sickle-cell disease and beta-thalessemia can only be cured by a bone marrow transplant, which can be risky and not feasible due to the lack of suitable donors. Now, new genome editors tools that make precise changes to a persons DNA are paving the way toward a different kind of cure. One approach uses a type of genome editing called CRISPR, and involves reactivating fetal hemoglobin, which can substitute for the missing or faulty adult version in these diseases. This CRISPR-based gene therapy is now being tested in clinical trials and early results are encouraging. Other gene therapies are also in the works, including those based on older technologies that augment rather than repair defective genes.

Genome editing technologies are having a significant impact across biomedicine, especially on the field of gene therapy. Despite their precision and ease of use, these tools cannot fix every genetic mutation, including those that change a single genetic base, similar to a one-letter misspelling on a page. More than 30,000 point mutations in the human genome are known to cause disease. Thanks to a new class of genome-editing tools, known as base editors, it is feasible to correct some of these so-called point mutations. The first base-editing therapies are now under development for a range of human diseases including sickle cell disease, inherited blindness, and genetic forms of high cholesterol. As base editing technologies continue to mature, researchers are also working to apply it to more common diseases, such as Alzheimers disease.

The first gene therapies to reach the clinic use viruses which have been molecularly honed and tailored to allow for the safe, effective delivery of human genes. While these viruses can transfer genes into cells a requirement for gene therapy they are not a perfect solution. Now, as scientists seek to build next-generation gene therapies, they are pursuing alternatives for gene delivery. These include highly sophisticated bubbles fashioned from nanoparticles, which help protect and direct gene therapies to their intended destination within the body. If gene therapies can be targeted more precisely to specific organs or tissues, they could be used to treat a broader range of disorders. These efforts are boosted by the recent development of a pair of highly effective coronavirus vaccines that use lipid-based nanoparticles to deliver their therapeutic cargo.

Some life-saving therapies, including certain forms of gene therapy, depend on bone marrow stem cells. But these cells are not easily accessible, and the protocol is long and can cause pain, nausea, and other complications. Scientists are developing a new approach that promises to streamline this process and help reduce the barriers that can hinder the delivery of some gene therapies. This new method holds promise not only for bone marrow transplantation, but also for gene therapies that depend on manipulating bone marrow stem cells. These treatments known broadly as ex vivo gene therapy require isolating bone marrow stem cells, treating the cells outside of the body with gene therapy, and then infusing the modified cells back into patients bloodstream.

One of the first gene therapies approved in the U.S. treats a rare genetic form of blindness with a one-time injection into the eye. Its success is paving the way for many other eye gene therapies that are now under development. Some 200 genes in humans are directly linked to vision problems, underscoring the incredible potential of the technology. Scientists are also pursuing novel gene therapies for another critical sensory organ, the ear. With more than 150 genes tied to hearing loss and deafness, there is a great need for treatments that can help protect and restore hearing. Millions of people in the U.S. suffer from hearing loss, yet there are currently no FDA-approved medicines to treat it. Unlike the eye, the inner ear is difficult to reach with therapeutics. To help overcome this hurdle, scientists have fine-tuned the molecular make-up of the viruses used in gene therapy to create versions that can penetrate the ears internal structures.

Approximately 10 million people worldwide suffer from Parkinsons disease, a chronic condition that stems from the progressive loss of dopamine-producing neurons in the brain, which help control movement. Unfortunately, there is no available drug that protects or stops the neurons from dying. But scientists and clinicians are developing a revolutionary approach to replace these lost neurons, harnessing stem cell-based methods to convert patients own blood cells into dopamine-producing neurons. Although this cell therapy does not fix the root causes of Parkinsons disease, it could provide a functional cure by replacing the dopamine-producing neurons in patients brains and restoring normal movement to their bodies.

Type 1 diabetes affects over a million people in the U.S. Patients must keep track of their blood sugar levels and inject themselves periodically with insulin, all because the cells in their own bodies that supply the hormone have been destroyed by the immune system. Scientists are working on a novel cell-based treatment for type 1 diabetes that involves replacing these lost insulin-producing cells with a special laboratory-grown variety. Over the last several years, scientists have developed several formulas for generating these cells using different stem cells as the key ingredient, along with cloaking strategies and efforts to enable replacement cells to release their own immune-blocking signals. As these technologies continue to advance toward the clinic, researchers hope to bring them to bear on another disease: type 2 diabetes. Worldwide there are over 400 million people with type 2 diabetes, many require insulin injections, underscoring the need for a more durable solution.

CAR-T therapy is a groundbreaking form of gene and cell therapy in which a patients own immune cells are isolated, genetically rewired in the laboratory with certain therapeutic properties, and then infused back into the bloodstream. For difficult to treat blood cancers, CAR-T therapies have proven remarkably effective, with some patients living for years cancer-free. Researchers are now working to expand the reach of this transformative technology by simplifying cell production and manufacturing and applying the approach to other disease areas. Scientists are also creating off-the-shelf versions of CAR-T therapies, selecting from an assortment of pre-made options for an immunological match for a patient. This could help expand the number of patients who could receive CAR-T therapies and minimize the time between doctors prescribing the treatment and patients receiving it. There are also efforts underway to broaden the diseases that CAR-T therapies can treat, including development of CAR-T therapies that can kill solid tumors or target entirely new areas, like autoimmune disease.

A virus found in nature has become a workhorse of gene therapy. Known asadeno-associated virus, or AAV, it is a popular choice among gene therapy developers because of its long track record and overall safety. But its not a perfect solution. Thats why scientists are working to create designer AAVs in the laboratory that address some of the virus shortcomings. The work promises to expand the clinical impact of gene therapy by broadening the number of patients and diseases that can benefit. Using data-driven methods, scientists are modifying the molecular make-up of the viruses to generate enhanced versions that home to specific organs, like the lung and kidney, which are not targeted by the current slate of therapeutic AAVs. Researchers are also fine-tuning AAVs to infect some cells in a tissue but not others for example, a specific subtype of neurons in the brain. Finally, efforts are underway to create AAVs that can evade detection by the immune system, which would help expand the clinical impact of gene therapy by making more patients eligible to receive it.

Some gene therapies seek to repair or replace whats been lost, like genes that are abnormally silent because of a genetic misspelling that terminates their usual function. But other genes can be broken in a different way that gives them new, often unexpected behaviors. To address these wayward genes, scientists have devised a class of innovative gene therapies called antisense oligonucleotides, or ASOs. They are designed with biochemical precision to shut down the activity of a target gene at its molecular roots and hold promise for neurodegenerative diseases. ASOs are relatively straightforward to engineer, so they can often be designed more quickly than other therapies. Over the last four years, six new ASO drugs were approved by the FDA, and many more are under development for a range of conditions, including neurodegenerative diseases such as ALS, Huntingtons disease, and Alzheimers disease.

Glioblastoma is the most common type of brain cancer in adults, and, tragically, most patients die within a year to 18 months of diagnosis. Now, using a variety of approaches from cancer-killing viruses to rewired immune cells to even cancer cells themselves researchers are working to develop a slate of innovative treatments with the power to eradicate glioblastoma tumors and give patients longer, cancer-free lives. One approach involves cancer-killing viruses, engineered in the laboratory to seek and destroy tumors. Researchers are also applying CAR-T cell technology, in which patients own immune cells are isolated, molecularly rewired with therapeutic powers, and then put back in the body. Another novel cell therapy builds on a remarkable, decade-old discovery: cancer cells that spread within the body can find their way back to their original tumor. This re-homing is spurring efforts to genetically engineer patients own tumor cells to endow them with cancer-killing properties. Once the cells are placed back into the body, they can return home and destroy their counterparts.

For detailed information on each of the Disruptive Dozen technologies, including video updates, please visit https://worldmedicalinnovation.org/2021-disruptive-dozen/

###

About Mass General BrighamMass General Brigham is an integrated academic healthcare system, uniting great minds in medicine to make life-changing impact for patients in our communities and people around the world. Mass General Brigham connects a full continuum of care across a system of academic medical centers, community and specialty hospitals, a health insurance plan, physician networks, community health centers, home care, and long-term care services. Mass General Brigham is a non-profit organization that is committed to patient care, research, teaching, and service to the community. In addition, Mass General Brigham is one of the nations leading biomedical research organizations and a principal teaching affiliate of Harvard Medical School. For more information, please visit massgeneralbrigham.org.

About Mass General Brigham InnovationInnovation is the 150-person business development unit of Mass General Brigham responsible for the worldwide commercial application of the unique capabilities and discoveries of Mass General Brigham's 74,000 employees. Innovation supports the research requirements of its 6,200 Harvard Medical School faculty and research hospitals. It has responsibility for industry collaborations, venture investing, international consulting, licensing, innovation management, company creation, technology marketing, open innovation alliances, and workforce development. Its annual World Medial Innovation Forum is underway virtually May 19-21.

Media Contact:Rich CoppMass General Brigham:rcopp@partners.org

Continue reading here:
Top 12 Disruptive Gene and Cell Therapy Technologies Announced - GlobeNewswire

PARIS--(BUSINESS WIRE)--Regulatory News:

GenSight Biologics (Paris:SIGHT) (Euronext: SIGHT, ISIN: FR0013183985, PEA-PME eligible), a biopharma company focused on developing and commercializing innovative gene therapies for retinal neurodegenerative diseases and central nervous system disorders, today announced that the highly-regarded journal Nature Medicine has published the first case report of partial recovery of visual function in a blind patient with late stage retinitis pigmentosa (RP). The subject is a participant in the ongoing PIONEER Phase I/II clinical trial of GenSight Biologics GS030 optogenetic therapy. Published in the May issue under the title Partial recovery of visual function in a blind patient after optogenetic therapy, the paper* is the first peer-reviewed documentation of visual recovery after a blind patient was treated with optogenetic therapy.

These are truly groundbreaking findings that move the promise of optogenetics another step from therapeutic concept to clinical use, commented Bernard Gilly, Co-Founder and Chief Executive Officer of GenSight. These could not have occurred without the close collaboration we enjoyed with our partners at the Institut de la Vision, the Institute of Ophthalmology Basel and Streetlab. We are especially grateful to the patients who are participating in our trial, whose experiences and input will help us design the next stage of GS030s clinical development. We will now accelerate the GS030 program to make it our second product to reach the market after LUMEVOQ.

Optogenetic therapies combine cellular expression of light-sensitive opsins with light stimulation using a medical device. GS030 uses an optimized viral vector (GS030-DP) to express the light-sensitive opsin ChrimsonR in retinal ganglion cells and proprietary light-stimulating goggles (GS030-MD) to project the right wavelength and intensity of light onto the treated retina. GS030-DP is administered via an intravitreal injection.

It was breathtaking to witness the first recovery of some visual function in a blind patient, commented Dr. Botond Roska, MD, PhD, last and co-corresponding author and a pioneer in the field of optogenetic vision restoration. Dr. Roska is Founding Director of the Institute of Molecular and Clinical Ophthalmology Basel (IOB) in Switzerland and a Co-Founder of GenSight. We have worked on optogenetic therapy in the lab for 16 years and now seeing the proof of concept in a patient is a unique experience, he said. I am most grateful to have shared this long journey with Jos Sahel, a fellow founder of GenSight; the dedicated team at GenSight; and our other collaborators.

The subject in the case report, who had been diagnosed with RP 40 years prior to enrollment, had such low visual acuity that prior to receiving GS030, he could only perceive light. His gene therapy injection was followed four and a half months later by training on the use of the GS030-MD device. Seven months after the start of his training, he began to report signs of visual improvement. Visual function tests showed he acquired the ability to perceive, locate, count and touch objects when his treated eye was stimulated with the GS030-MD goggles. Without the goggles, he could not perform the tasks.

While the patient performed vision-oriented tasks, recordings were taken using extracranial multi-channel electroencephalography (EEG), a non-invasive technique that provides a readout of neuronal activity across the cortex. The EEG signals suggest that the act of carrying out the visual perception tests was accompanied by neurophysiological activity in the visual cortex.

In addition, the patient also reported significant improvements in his ability to conduct day-to-day activities such as navigating in outdoor and indoor environments and detecting household objects and furniture.

Watching a patient benefit for the first time from this trial using optogenetics to treat blindness has been a uniquely rewarding experience, commented Dr. Jos-Alain Sahel, MD, PhD, lead and co-corresponding author, Co-Founder of GenSight, and Founder of the Institut de la Vision (Sorbonne-Universit/Inserm/CNRS), Paris, France. Dr. Sahel is also Director of Institut Hospitalo-Universitaire FOReSIGHT, Paris, France, and Distinguished Professor and Chairman of the Department of Ophthalmology at the University of Pittsburgh School of Medicine and UPMC (University of Pittsburgh Medical Center), USA. He added, Being able to take part in bringing this new scientific approach to the clinic reflects the long-term collaboration with Botond Roska, the scientists of the Vision Institute, our clinicians, the Streetlab and psychophysics teams, and GenSight.

A video of the patient performing the tests, which was submitted as supplementary material to Nature Medicine, can be viewed at http://www.gensight-biologics.com.

Key Opinion Leader Webcast: June 4, 2021 at 2:00 PM CEST/8:00 AM EDT

Dr. Sahel and Dr. Roska will discuss the case report on a KOL webcast dedicated to Optogenetics and GS030 and hosted by GenSight Biologics.

Details will be announced at a later date.

Context

RP is the leading cause of inherited blindness and is caused by mutations in more than 71 different genes.a By using gene therapy to induce light sensitivity in unaffected retinal ganglion cells, GS030 overcomes the challenge among genetics-based treatments of exclusively addressing a specific underlying mutation and thus offers a treatment that is independent of the underlying pathogenic mutation.

PIONEER is the Phase I/II first-in-human, multi-center, open-label dose-escalation clinical trial to evaluate the safety and tolerability of GS030 in subjects with late-stage RP. A total of 12 to 18 subjects are planned to be enrolled. Three cohorts with three subjects each will be administered an increasing dose of GS030-DP via a single intravitreal injection in their worse-seeing eye. An extension cohort will receive the highest tolerated dose. A Data Safety Monitoring Board (DSMB) reviews the safety data of all treated subjects in each cohort and makes recommendations before the next cohort is enrolled. The primary outcome analysis will be the safety and tolerability at one year post-injection.

In line with the PIONEER protocol, the subject received the lowest dose (5.0E10 vector genomes) of GS030-DP in his worse-seeing eye. Four and a half months after injection, the patient began systematic training at Streetlab, a specialized visual rehabilitation facility, to learn how to use the light-stimulating goggles. The timing of the training was based on the estimated time it takes for the expression of light-sensitive opsin to stabilize in foveal ganglion cells.

Highlights of Visual Function Findings from Case Report

In the first visual test, the subject was asked to perceive, locate, and touch a single object placed in front of him on a white table. The subject had no success without the goggles. When the subjects treated eye was stimulated by the GS030-MD goggles, his ability to perceive, locate, and touch an object depended on the size of the object, with a significantly higher rate of successful trials with a large object (a notebook; 92%) than with the smaller object (a staple box; 36%). The success rate was similar for objects at different contrasts, suggesting that even objects at lower contrasts generated enough retinal activity for perception. Finally, the success rate was similar for the different tasks of perceiving, locating, and touching, suggesting that once the object was perceived, the patient could coordinate his motor system with the percept.

The second visual test required the subject to perceive, count, and locate two or three tumblers of different contrasts placed in front of him on a white table. As in the first test, the subject had no success without the goggles. When the subjects treated eye was stimulated by the GS030-MD goggles, the patient perceived, correctly counted, and located the objects in the majority (58-63%) of the trials. As in the first test, the success rate was similar for objects of different contrasts.

In the third visual test, the patient had to assess the presence or absence of a tumbler on a white table. The success rate with the goggles stimulating the treated eyes was statistically significantly higher than without the goggles (41% vs. 6%; p < 0.001).

Highlights of Safety Findings from Case Report

In-depth ocular examinations were performed regularly before and after injection, and potential intraocular inflammation was monitored according to international guidelines of the Standardization of Uveitis Nomenclature (SUN) Working Group.b Both eyes of the subject showed no intraocular inflammation and no changes in the anatomy of the retina; there were no ocular or systemic adverse events over the 84 weeks of assessment.

The subject tested the light-stimulating goggles three times before being injected with the gene therapy. On each of these occasions, he reported no change of vision or photophobia.

Detailed findings can be found at https://www.nature.com/articles/s41591-021-01351-4.

*About the paper:

Partial recovery of visual function in a blind patient after optogenetic therapy

Authors:

Jos-Alain Sahel1,2,3,4, Elise Boulanger-Scemama3,4, Chlo Pagot5, Angelo Arleo1, Francesco Galluppi6, Joseph N Martel2, Simona Degli Esposti7, Alexandre Delaux1, Jean-Baptiste de Saint Aubert1, Caroline de Montleau5, Emmanuel Gutman5, Isabelle Audo1,3, Jens Duebel1, Serge Picaud1, Deniz Dalkara1, Laure Blouin6, Magali Taiel6, Botond Roska8,9

Affiliations:

1 Sorbonne Universit, INSERM, CNRS, Institut de la Vision, Paris, France

2 Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, USA

3 INSERM-Centre d'Investigation Clinique 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France

4 Dpartement d'Ophtalmologie, Fondation Ophtalmologique Rothschild, Paris, France

5 Streetlab, Institut de la Vision, Paris, France

6 GenSight Biologics, Paris, France

7 NIHR Moorfields Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom

8 Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland

9 Department of Ophthalmology, University of Basel, Basel, Switzerland

References:

About GenSight Biologics

GenSight Biologics S.A. is a clinical-stage biopharma company focused on developing and commercializing innovative gene therapies for retinal neurodegenerative diseases and central nervous system disorders. GenSight Biologics pipeline leverages two core technology platforms, the Mitochondrial Targeting Sequence (MTS) and optogenetics, to help preserve or restore vision in patients suffering from blinding retinal diseases. GenSight Biologics lead product candidate, LUMEVOQ (GS010; lenadogene nolparvovec), has been submitted for marketing approval in Europe for the treatment of Leber Hereditary Optic Neuropathy (LHON), a rare mitochondrial disease affecting primarily teens and young adults that leads to irreversible blindness. Using its gene therapy-based approach, GenSight Biologics product candidates are designed to be administered in a single treatment to each eye by intravitreal injection to offer patients a sustainable functional visual recovery.

About GS030

GS030 leverages GenSight Biololgics optogenetics technology platform, a novel approach to restore vision in blind patients using a combination of ocular gene therapy and tailored light-activation of treated retinal cells. The gene therapy, which is delivered via a single intravitreal injection, introduces a gene encoding for a light-sensitive protein (ChrimsonR-tdT) into retinal ganglion cells, making them responsive to light and bypassing photoreceptors killed off by diseases such as retinitis pigmentosa (RP). Because ChrimsonR-tdT is activated by high intensities of amber light, a wearable medical device is needed to stimulate the treated retina. The optronic lightstimulating goggles (GS030-MD) encode the visual scene in real-time and project a light beam with a specific wavelength and intensity onto the treated retina. Treatment with GS030 requires patients to wear the external wearable device in order to enable restoration of their visual function. With the support of the Institut de la Vision in Paris and the team of Dr. Botond Roska at the Friedrich Miescher Institute in Basel, GenSight is investigating GS030 as therapy to restore vision in patients suffering from late-stage RP. GenSights optogenetics approach is independent of the specific genetic mutations causing blindness and has potential applications in other diseases of the retina in which photoreceptors degenerate, like dry agerelated macular degeneration (dry-AMD). GS030 has been granted Orphan Drug Designation in the United States and Europe.

About Optogenetics

Optogenetics is a biological technique that involves the transfer of a gene encoding for a light sensitive protein to cause neuronal cells to respond to light stimulation. As a neuromodulation method, it can be used to modify or control the activities of individual neurons in living tissue and even in-vivo, with a very high spatial and temporal resolution. Optogenetics combines (1) the use of gene therapy methods to transfer a gene into target neurons with (2) the use of optics and electronics (optronics) to deliver the light to the transduced cells. Optogenetics holds clinical promise in the field of vision impairment or degenerative neurological disorders.

About Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a family of orphan genetic diseases caused by multiple mutations in numerous genes involved in the visual cycle. Over 100 genetic defects have been implicated. RP patients generally begin experiencing vision loss in their young adult years, with progression to blindness by age 40. RP is the most widespread hereditary cause of blindness in developed nations, with a prevalence of about 1.5 million people throughout the world. In Europe and the United States, about 350,000 to 400,000 patients suffer from RP, and every year between 15,000 and 20,000 new patients with RP lose sight. There is currently no curative treatment for RP.

About the PIONEER Phase I/II trial

PIONEER is a first-in-man, multi-center, open label dose-escalation study to evaluate the safety and tolerability of GS030 in 12-18 subjects with late-stage retinitis pigmentosa. GS030 combines a gene therapy (GS030-DP) administered via a single intravitreal injection with a wearable optronic visual stimulation device (GS030-MD). Eligible patients in the first three cohorts are those affected by end-stage non-syndromic RP with no light perception (NLP) or light perception (LP) levels of visual acuity. The extension cohort will include patients with hand motion (HM) and counting fingers (CF) levels of visual acuity.

As per protocol, three cohorts with three subjects each will be administered an increasing dose of GS030-DP via a single intravitreal injection in their worse-seeing eye. An extension cohort will receive the highest tolerated dose. The DSMB will review the safety data of all treated subjects in each cohort and will make recommendations before a new cohort receives the next dose. The primary outcome analyses will be on the safety and tolerability at one year post-injection. PIONEER is being conducted in three centers in the United Kingdom, France and the United States.

Follow this link:
GenSight Biologics Announces Nature Medicine Case Report Showing Visual Recovery after GS030 Optogenetic Treatment - Business Wire

BOSTON, May 24, 2021 (GLOBE NEWSWIRE) -- Decibel Therapeutics (Nasdaq: DBTX), a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments to restore and improve hearing and balance, today announced the appointment of leading experts in gene therapy, cochlear development and molecular genetics to its Scientific Advisory Board (SAB).

These additions to our SAB bring a deep understanding of the genetic roots of hearing loss and balance disorders, and we look forward to working closely with them as we progress our pipeline of gene therapies and regenerative medicines, said Joe Burns, Ph.D., Vice President, Discovery.

We value their insights and tremendous experience in the translational considerations for the development of gene therapies as Decibel works to address the vast unmet needs in hearing and balance disorders, said John Lee, Chief Development Officer.

Career summaries of the Scientific Advisory Board appointees:

Connie Cepko, Ph.D., is the Bullard Professor of Genetics and Neuroscience at Harvard Medical School and a Howard Hughes Medical Institute Investigator. She trained in virology with Dr. Phillip Sharp at MIT for a Ph.D., and later with Dr. Richard Mulligan at the MIT Whitehead Institute. She helped develop retroviral vectors for transduction into the central nervous system (CNS) for lineage analysis and for studies of gene function in vivo. Her laboratory has focused on the mechanisms of cell fate determination in the CNS with focus on retina through the analysis of progenitor and stem cells. More recently, she has been studying the mechanisms of photoreceptor death in diseases that cause blindness, such as retinitis pigmentosa and macular degeneration, and is developing gene therapies to avert photoreceptor death in order to prevent vision loss.

GuangpingGao, Ph.D.,is an internationally recognized researcher who played a key role in the discovery and characterization of a new family of adeno-associated virus (AAV) serotypes to advance the gene therapy field. He has published extensively in the field, with more than 300 papers, and holds more than 191 patents, with hundreds more pending. The Penelope Booth Rockwell Professor in Biomedical Research at the University of Massachusetts Medical School, Dr. Gao is an elected fellow of both the U.S. National Academy of Inventors and the American Academy of Microbiology. He is the Past President of the American Society of Gene and Cell Therapy. Dr. Gao co-founded Voyager Therapeutics, Adrenas Therapeutics and Aspa Therapeutics to develop AAV-based gene therapies for rare diseases.

Matthew Kelley, Ph.D., directs the Laboratory of Cochlear Development in the Intramural Program at the National Institute on Deafness and Other Communication Disorders, National Institutes of Health. A widely published and well-respected research scientist, he focuses on the cellular and molecular development of the mammalian cochlea. Dr. Kelley has long been an active member and is the past President of the Association for Research in Otolaryngology (ARO).

Glenn Pierce, M.D., Ph.D.,is Entrepreneur-in-Residence at Third Rock Ventures. He has 30 years of experience in drug discovery and developmentwith a particular focus on tissue regeneration, gene therapy and hematologyand has contributed to the development of six marketed products.As the former Chief Medical Officer, Hemophilia Therapeutic Area at Biogen, he led work culminating in multiple regulatory approvals for hemophilia therapeutics. Dr. Pierce has served in multiple leadership roles for the National Hemophilia Foundation as well as on advisory boards for the U.S. Food and Drug Administration and the U.S. Department of Health and Human Services. He has co-authored more than 150 scientific papers and has received more than 15 patents. Dr. Pierce serves on the Boards of Directors of Global Blood Therapeutics and Voyager Therapeutics.

Dinah Sah, Ph.D., is an accomplished drug developer and R&D leader with over 25 years of experience in research and drug development in the biotechnology industry. Most recently, she was Chief Scientific Officer at Voyager Therapeutics, joining soon after its start in 2014. Prior to Voyager, Dr. Sah was Vice President of Research at Alnylam, overseeing many of the research programs during her seven-year tenure. She has successfully led multiple research and preclinical programs toward and into clinical development across new modalities, including the CNS-focused AAV programs at Voyager and the groundbreaking novel class of RNAi therapeutics developed at Alnylam.

About Decibel TherapeuticsDecibel Therapeutics is a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments to restore and improve hearing and balance, one of the largest areas of unmet need in medicine. Decibel has built a proprietary platform that integrates single-cell genomics and bioinformatic analyses, precision gene therapy technologies and expertise in inner ear biology. Decibel is leveraging its platform to advance gene therapies designed to selectively replace genes for the treatment of congenital, monogenic hearing loss and to regenerate inner ear hair cells for the treatment of acquired hearing and balance disorders. Decibels pipeline, including its lead gene therapy program, DB-OTO, to treat congenital, monogenic hearing loss, is designed to deliver on our vision of a world in which the privileges of hearing and balance are available to all. For more information about Decibel Therapeutics, please visitwww.decibeltx.comor follow us onTwitter.

Investor Contact:Julie SeidelStern Investor Relations, Inc.julie.seidel@sternir.com212-362-1200

Media Contact:Chris RaileyTen Bridge CommunicationsChris@tenbridgecommunications.com617-834-0936

Read the original post:
Decibel Therapeutics Expands World-Class Scientific Advisory BoardAdds leaders with expertise in hearing loss and balance disorders, combined with...

LONDON, May 24, 2021 /PRNewswire/ -- My Personal Therapeutics Ltd. (trading asVivan Therapeutics), a UK-based company, announces an expansion of its licensed technology rights from Mount Sinai Health System.Scientists at the Icahn School of Medicine at Mount Sinai Center for Personalized Cancer Therapeutics (CPCT)in New York (USA) developed a novel approach to cancer therapeutics. In April 2019,My Personal Therapeuticsannounced an exclusive license of the Personal Discovery Process technology from Mount Sinai for global commercialization. PDP leverages Big Data to build personalized "fruit fly avatars" that model the genetic complexity of each patient's unique tumor network. Using advanced robotics, thousands of FDA approved drugs are screened in a variety of combinations to identify drug cocktails designed to target tumors. Today, the company announces the expansion of licensed processes to include exclusive drug discovery and development rights.

The Personal Discovery Process is currently being used to help patients and their clinicians discover improved personalized therapeutic solutions, and empower biopharma partners in their drug discovery and development programs. The technology enables screening of a vast array of drug combinations in disease-relevant patient models, as well as efficacy studies, evaluation of drug combinations, competitive profiling and rapid virtual clinical studies across numerous disease-relevantin-vivomodels, including custom designed models. With its proprietary screening data,VivanTherapeuticsis building a powerful AI-driven digital health tool, which can potentially predict effective treatment options rapidly and inform drug discovery.

Laura Towart, CEO and Founder of Vivan Therapeuticscommented, "This expanded technology license will bolster Vivan's potential as a leader in personalized cancer therapeutics discovery and development. It is an important step for the company that will enable us to have wide reaching impact on oncology and rare genetic disease therapeutics."

Erik Lium, Chief Commercial Innovation Officer of the Mount Sinai Health Systemsaid, "We look forward to Vivan advancing development of this technology into therapeutics that has the potential to address cancer with an innovative, personalized and effective approach."

About Vivan Therapeutics Ltd.

Vivan Therapeuticsoffers personalised cancer therapeutics utilising technology developed at and in partnership with Mount Sinai Medical Center.We identify personalised cancer treatments for patients based on their tumour genetics.For each patient, we build a genetically matched fruit fly model of the tumour, which is used for large-scale drug screening to find novel and effective drug combinations. This platform can treat even difficult cancers with combinations of approved drugs. Nearly all combinations incorporate non-cancer drugs, making them less toxic and more affordable. Using our proprietary screening data, we are building a powerful AI-driven digital health tool, which can predict effective treatment options rapidly. Our in-vivo, high throughput drug screening platform is also used to power biopharma discovery and development.

Aboutthe Mount SinaiHealth System

The Mount Sinai Health System is New York City's largest academic medical system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai is a national and international source of unrivaled education, translational research and discovery, and collaborative clinical leadership ensuring that we deliver the highest quality carefrom prevention to treatment of the most serious and complex human diseases. The Health System includes more than 7,200 physicians and features a robust and continually expanding network of multispecialty services, including more than 400 ambulatory practice locations throughout the five boroughs of New York City, Westchester, and Long Island. The Mount Sinai Hospital is ranked No. 14 onU.S. News & World Report's"Honor Roll" of the Top 20 Best Hospitals in the country and the Icahn School of Medicine as one of the Top 20 Best Medical Schools in country. Mount Sinai Health System hospitals are consistently ranked regionally by specialty and our physicians in the top 1% of all physicians nationally byU.S. News & World Report.

For more information, please contact Laura Towart / Founder & CEO ofVivanTherapeutics:[emailprotected]

Related Images

icahn-school-of-medicine-at-mount.jpg Icahn School of Medicine at Mount Sinai

SOURCE Vivan Therapeutics

Read the original here:
UK Vivan Therapeutics Secures Expanded Drug Discovery & Development Platform From Mount Sinai Health System in New York - PRNewswire