Category Archives: Gene Medicine

A rare disease is, by its very nature, rare. The CDC defines a rare disease as a condition that affects fewer than 200,000 people in the United States, or no more than one out of every 2,000 people in Europe.1 And yet, rare diseaseswhich frequently have a genetic componentaffect many: there may be as many 7,000 different types of rare diseases, impacting 25 to 30 million people in the United States, according to the National Center for Advancing Translational Sciences.2 Often, rare diseases lack treatments, leaving patients with little hope.

An ambitious new project, called Accelerating Research and Development for Advanced Therapies (ARDAT), is working to change that. This five-year endeavor through the Innovative Medicines Initiative (IMI), "the world's biggest private-public partnership in the life sciences," is seeking to better understand ways of treating rare diseases through something called advanced therapy medicinal products (ATMPs), such as cell and gene therapies.

Led by Pfizer and University of Sheffield, ARDAT is a consortium made up of more than 30 academic, nonprofit, and private organizations from Europe and the United States that is collaborating to work with regulators and share research and data. The goal is ultimately to improve our understanding of ATMPs, which may helpbring more effective medicines to patients with rare diseases. Gene therapy is one of the new transformative frontiers of medicine, says Greg LaRosa, who is the projects lead at Pfizer, where he serves as Vice President, Head of Scientific Research in the Rare Disease Research Unit.

By collaborating with so many other experienced partners, James Eshelby, Vice President of Global Public-Private Partnerships with Pfizer, hopes researchers will be able to gain a deeper understanding, faster, about this new class of drugs that are advancing toward the marketplace. The project being conducted as a public-private partnership is much more robust than it would be if we were all making separate efforts, he says. Theres a shared hope that findings from ARDAT will also lead to a deeper understanding of ATMPS that may translate into advanced therapies for other diseases.

When a person has a genetic disease, doctors have insights into what the defect is. We know what the cellular activity the gene and the protein product from that gene is responsible for performing, and often we really understand why the people have this disease, says LaRosa. Gene therapy allows them to essentially replace that mutated gene with the correct gene.

I think one thing that's fabulous about gene therapy is it's not just treating the symptom, it's attempting to treat the cause, says Eshelby. Its trying to get the body to do what it should have been doing in the first place.

One example of gene therapy that Pfizer has been studying, in collaboration with ARDAT partner Spark Therapeutics, targets a rare bleeding disorder called Hemophilia B. When a person has Hemophilia B, their body doesnt make enough Factor IX, which is a protein that helps with clotting. Because of that genetic mutation, their blood doesnt clot as quickly as it normally would, which puts them at a greater risk of bleeding excessively, from minor injuries, or even spontaneously.

In an ongoing Phase 3 clinical trial, scientists are placing the Factor IX gene into an AAV viral vector, which is used to deliver the gene to cells of the patient. The viruses are modified so they cannot replicate or cause disease. After receiving the potential therapy intravenously, the body should begin making Factor IX, helping the blood to clot.

With the currently available treatments for Hemophilia B, every few days patients need to receive intravenous medication that aids clotting. Whereas if a gene therapy treatment is successful and approved for this purpose, a single treatment could have long-lasting effects. It just really frees the patients up to live a more normal life, says LaRosa. It gives them something that could dramatically change the path they're on with their disease.

Because most advanced therapy medicinal products such as gene therapy are still being developed, theres much to learn about how and why these advanced medicines work, how long the effects will last and how to overcome barriers to developing medicines with the aim of obtaining regulatory approvals and getting them to patients as rapidly as they need them. Through ARDAT, which launched in late 2020, partners in the consortium are sharing data to collectively gain a deeper understanding of ATMPs. Data sets within single institutions are not as big as that which would be compiled under the ARDAT collaboration, says Eshelby. By sharing individual data sets, you have a better potential to get to data set sizes where you can undertake a more comprehensive analysis.

In addition, Eshelby says sharing knowledge has the potential to benefit other areas, including product development, research, communication and awareness campaigns and more. The partners have expertise in areas such as gene therapy, immunology, chemistry, engineering, biotechnology, drug safety, viral vector creation, and regulatory and clinical trials. They include organizations from 10 countriesas well asprominent universities, research institutes,and biotech firms,includingBayer, Sanofi, University of Oxford,and more.

Together, the partners of ARDAT seek to better understand ATMPs and build upon that knowledge, without having to reinvent the wheel at each individual organization. By working with regulatory agencies as well, LaRosa says theyre hoping to streamline the development path of these therapeutics to make them available faster and give people suffering from rare diseases an offering of hope. For some, that might mean they no longer have to receive intravenous treatments multiple times a week; for others, it could mean continuing to move about without the use of a wheelchair. For many, it could mean a better quality of life.

With many of these rare diseases, there's no treatment yet available, says LaRosa. So the goal of this collaboration is to try to fill those knowledge gaps in cell and gene therapyso we can get these potentially curative products into the clinic, and then to the patients that need them.

References:

1. National Institutes of Health. Public Health and Rare Diseases: Oxymoron No More https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases

2. National Center for Advancing Translational Sciences, FAQs About Rare Diseases https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases

About ARDAT

The ARDAT project is a precompetitive 25.5M,5 yearconsortium that brings together the leading expertise of 34 academic, nonprofit, and private organizations, with the shared goal of helping to standardize and accelerate development of Advanced Therapy Medicinal Products (ATMPs) and potentially helping to bring these transformative treatments to patients sooner. For more information on ARDAT, visitwww.ardat.org

TheIMIis Europe's largest public-private initiative aiming to speed up the development of better and safer medicines for patients. IMI supports collaborative research projects and builds networks of patients, industrial and academic experts in order to boost pharmaceutical innovation in Europe. IMI is a joint undertaking between the European Union and the European Federation of Pharmaceutical Industries and Associations (EFPIA). For further details please visit:http://imi.europa.eu/

This project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No [945473]. This Joint Undertaking receives support from the European Unions Horizon 2020 research and innovationprogrammeand EFPIA.

This communication reflects the views of the authors and neither the IMI nor the European Union, EFPIA or any other partners are liable for any use that may be made of the information contained herein.

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Through Public-Private Partnership, Scientists are Working to Better Understand Gene Therapy and How it Could Help Patients With Rare Diseases |...

PHILADELPHIAToo many exhausted T cells left in the wake of aggressive chemotherapy regimens for patients with advanced chronic lymphocytic leukemia (CLL) make it more challenging for chimeric antigen receptor (CAR) T cell therapy to do its job. Now, a new study from researchers in the Perelman School of Medicine at the University of Pennsylvania shows how to overcome this type of resistance and reinvigorate these T cells with an experimental small molecule inhibitor.

Reporting online today in the Journal of Clinical Investigation, the team shows how the drug, known as JQ1, improved CAR T cell function by inhibiting what is known as the bromodomain and extra terminal (BET) proteins. BET, the researchers showed, can disrupt CAR expression and key acetylated histone functions in T cells in CLL.

The findings demonstrate, for the first time, this mechanism of resistance and present a much-needed target for CLL when treating patients with cellular therapies like CAR. Only a small subset of patients with advanced CLL respond to CAR T cell therapycompared to 80 percent of acute lymphocytic leukemia patients with advanced disease.

Why CAR T cells fail to fully attack cancer cells in so many CLL patients is an important question that needs to be answered in order to expand the use of these immunotherapies in CLL and other cancers, said senior author Joseph A. Fraietta, PhD, an assistant professor of Microbiology at Penn, and member of the Center for Cellular Immunotherapies. Treating these war weary T cells during the CAR T cell engineering process has the potential to boost responses, weve shown here. Its setting the stage for a very promising set of next steps that rationalize further studies, including clinical trials, to prove this approach is safe and feasible.

Using the small molecule inhibitor and the T cells and CD19 CAR T cells from multiple previously treated patients, the researchers demonstrated that the BET protein plays a role in downregulating CAR expression, and that, if blocked, can diminish CAR cell T cell exhaustion and increase the production of CAR T cells from CLL patients with poor lymphocytes.

Treatment with JQ1 also increased levels of various immunoregulatory cytokines and chemokines previously reported to be produced by CAR T cells in CLL during successful therapy. The array of native immune and CAR cells mirrored those found more typically in patients who do respond.

Given this observed reinvigoration of dysfunctional CLL patient CAR T cells by BET inhibition, the authors suggest that incorporating JQ1 into cellular engineering and expansion processes could lead to a generation of less defective and more potent final CAR T cells for patients.

To what extent the above pathways contribute to the effects of JQ1 on CAR T cells is a focus of ongoing investigations for the research group.

This work shows us that T cells can be taught new tricks, said Bruce Levine, PhD, the Barbara and Edward Netter Professor in Cancer Gene Therapy in Penns Perelman School of Medicine, and co-author on the study.That is to say that the methods of manufacturing can be adapted to improve CAR T cell function, so that what would have been exhausted or dysfunctional cells can now be reinvigorated, and potentially lead to better clinical responses in more patients than before.

This work was supported by the Bob Levis Funding Group, along with the National Institute of Allergy and Infectious Diseases (T32 AI007632), National Cancer Institute (P01 CA214278 575, R01 CA241762 U54 CA244711 576, P30 CA016520-44S3, and P30 CA016520-44S4), National Institute on Aging (U01 AG066100), the National Institute of General Medical Sciences (R01 GM118501), an Emerging Cancer Informatics Center of Excellence award from the Penn Institute for Biomedical Informatics and Abramson Cancer Center,Gabrielles Angel Foundation, an Alliance for Cancer Gene Therapy Investigator Award in Cell and Gene Therapy for Cancer, and Novartis.

Editors note: Fraietta is a co-founder of DeCART Therapeutics, Inc. and Levine is a co-founder of Tmunity Therapeutics, Inc. The University of Pennsylvania has licensed certain study-related technologies to Novartis. Penn and the inventors of these technologies receive significant financial benefits as a result of this licensing relationship with Novartis.

Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $8.9 billion enterprise.

The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $496 million awarded in the 2020 fiscal year.

The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is powered by a talented and dedicated workforce of more than 44,000 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2020, Penn Medicine provided more than $563 million to benefit our community.

Continue reading here:
Existing Drug May Help Improve Responses to Cellular Therapies in Advanced Leukemias - pennmedicine.org

DUBLIN--(BUSINESS WIRE)--The "Global Direct-to-Consumer Genetic Testing Market: Focus on Direct-to-Consumer Genetic Testing Market by Product Type, Distribution Channel, 15 Countries Mapping, and Competitive Landscape - Analysis and Forecast, 2021-2031" report has been added to ResearchAndMarkets.com's offering.

Direct-to-consumer genetic testing market to be one of the growing markets, which is predicted to grow at a CAGR of 17.30% during the forecast period, 2021-2031.

The direct-to-consumer genetic testing market's growth has been primarily attributed to the major drivers in this market, such as the growing amount of direct-to-consumer genetic testing, increasing research funding in the field of molecular biology, and an increase in awareness and acceptance of personalized medicine on a global level.

However, genomic data protection, ethical and social issues, and lack of regulatory standards are some of the factors expected to restrain the market growth.

Market Overview

Decreased cost and time required for genetic sequencing have increased the acceptance of DTC genetic testing among consumers. DTC genetic testing companies offer these genetic tests to their consumers through online channels and over-the-counter (OTC) channels, which has made these tests easily accessible to consumers around the globe.

The market is favored by the increased research activities based on next-generation sequencing-based technologies. The technology has been segmented into targeted analysis, whole genome sequencing, and single nucleotide polymorphisms. The whole genome sequencing segment is expected to grow at the highest CAGR of 17.37% during the forecast period 2021-2031.

This increase is mainly attributed to a large number of research and development being conducted due to the COVID-19 pandemic and regulatory approvals gained by key companies for genetic health risks-based tests.

Within the research report, the market is segmented on the basis of product type, technology, distribution channel, and region. Each segment covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

With the increasing consumer awareness and intense market penetration, companies such as 23andme, Inc., Ancestry.com, LLC, and Color Genomics have become pioneers and significant competitors in this market.

Other key players in the market are 24Genetics, Easy DNA, DNAfit, and My Heritage Ltd., among others.

The increased demand for complex and custom sequencing techniques, rising genetic testing services, and growing research to treat and diagnose genetic and infectious diseases have opened opportunities for companies to expand their product portfolios, increase automation facilitation, and develop novel consumer genetics solutions by adopting different strategic approaches.

Some of the strategies followed by the contributors are new product launches and enhancements, agreements, collaborations, partnerships, acquisitions, and expansions. For instance, in 2020, Eastern Biotech & Life Sciences launched Genoplan, which offers advanced genetic tests analyzing hundreds of medical, health, and well-being categories.

As the industry is new and currently unregulated, skepticism arises among government organizations and customers about the validity of the test results. Despite the good acceptance in some countries, few countries still require genetic counseling to be part of their mainstream genetic tests.

Companies can collaborate with physicians and genetic counselors to analyze the genetic test results or to pre-test counseling to the customers. This could also lead to opening a new distribution channel of the market, therefore increasing the sales of these genetic tests.

The direct-to-consumer genetic testing market has been widely accepted in North America and some regions of Europe, such as the U.K. as well as in few parts of Asia-Pacific. Companies exploring regions such as the U.A.E, China, South Korea, and EU5 can open many business opportunities. Established players as well as new entrants should be focusing on shaping the regulatory landscape for the different countries and paving the way for entry into the regulated market, thus gaining the confidence of the consumers. Expanding globally will result in the explosion of the market.

Furthermore, established key players in the market should work with governments to organize education and awareness programs for consumers and genetic counselors for effective interpretation of results, providing consumers a sense of empowerment, which will certainly help the growth of the market.

Due to the limited awareness among consumers and training among primary physicians or genetic counselors, there are high chances of misinterpretation of results and inappropriate test utilization. Professional support to the consumers will help the consumers to understand better about the outcomes and transform the reach of healthcare to the consumers.

Key Questions Answered in this Report

Market Growth Drivers

Market Challenges

Market Opportunities

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/gi0d9z

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Global Direct-to-Consumer Genetic Testing Market Analysis and Forecast, 2021-2031 Featuring Market pioneers - 23andme, Ancestry.com, and Color...

Global Direct-to-Consumer Genetic Testing Market to Reach $6,604. 5 Million by 2031. Market Report Coverage - Direct-to-Consumer Genetic Testing Market Segmentation.

New York, Aug. 19, 2021 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Global Direct-to-Consumer Genetic Testing Market: Focus on Direct-to-Consumer Genetic Testing Market by Product Type, Distribution Channel, 15 Countries Mapping, and Competitive Landscape - Analysis and Forecast, 2021-2031" - https://www.reportlinker.com/p06129776/?utm_source=GNW

Product Type- Ancestry, Health and Wellness, and Entertainment Technology Targeted Analysis, Single Nucleotide Polymorphisms (SNPs), and Whole Genome Sequencing (WGS) Distribution Channel- Online Channel and Over-the-Counter Channel

Regional Segmentation

North America U.S., Canada Europe Germany, France, Italy, U.K., Spain, and Rest-of-Europe Asia-Pacific China, Japan, Australia, India, and South Korea Latin America Brazil, Mexico, and Rest-of-the-Latin America Rest-of-the-World

Market Growth Drivers

Growing Number of Direct-to-Consumer Genetic Tests Decreasing Cost of Sequencing Increasing Research Funding in the Field of Molecular Biology Increase in Awareness and Acceptance of Personalized Medicines on a Global Level

Market Challenges

Genomic Data Protection Uncertain Regulatory Standards for Direct-to-Consumer Genetic Tests Ethical and Social Issues

Market Opportunities

Massive Scope for Adoption of Genomic-Based Medicine in Emerging Nations Capitalizing on the High Prevalence of Genetic Disorders Growth in Emerging Nations

Key Companies Profiled

23andme Inc., 24Genetics, Ancestry.com LLC, Atlas Biomed, Color Genomics, DNAfit, Gene by Gene, Chengdu Twenty-Three Rubiks Cube Biotechnology Co., Ltd., EasyDNA, Mapmygenome, MyHeritage Ltd., Laboratory Corporation of America Holdings, Myriad Genetics, Inc., Konica Minolta, Inc., XCODE Life

Key Questions Answered in this Report: What are the major market drivers, challenges, and opportunities in the global direct-to-consumer genetic testing market? What are the key development strategies implemented by the major players in order to sustain in the competitive market? Which is the dominant product type developed by the leading and emerging of direct-to-consumer genetic testing market? What are the key technologies that have been used by leading players in the global market for the development of consumer genetic tests? How is each segment of the market expected to grow during the forecast period 2021-2031? The segments are: o product type o technologyo distribution channelo geography Which companies are anticipated to be highly disruptive in the future, and why? What are the regulations for the development of direct-to-consumer genetic testing?

Market Overview

BIS Research healthcare experts have found the direct-to-consumer genetic testing market to be one of the growing markets, which is predicted to grow at a CAGR of 17.30% during the forecast period, 2021-2031. The direct-to-consumer genetic testing markets growth has been primarily attributed to the major drivers in this market, such as growing number of direct-to-consumer genetic testing, increasing research funding in the field of molecular biology, and increase in awareness and acceptance of personalized medicine on a global level. However, genomic data protection, ethical and social issues, and lack of regulatory standards are some of the factors expected to restrain the market growth.

Decreased cost and time required for genetic sequencing has increased the acceptance of DTC genetic testing among the consumers. DTC genetic testing companies offer these genetic tests to their consumers through online channels and over-the-counter (OTC) channels, which has made these tests easily accessible to consumers around the globe.

The market is favored by the increased research activities based on next-generation sequencing-based technologies.The technology has been segmented into targeted analysis, whole genome sequencing, and single nucleotide polymorphisms.

The whole genome sequencing segment is expected to grow at the highest CAGR of 17.37% during the forecast period 2021-2031. This increase is mainly attributed to a large number of research and development being conducted due to the COVID-19 pandemic and regulatory approvals gained by key companies for genetic health risks-based tests.

Within the research report, the market is segmented on the basis of product type, technology, distribution channel, and region. Each segment covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

With the increasing consumer awareness and intense market penetration, companies such as 23andme, Inc., Ancestry.com, LLC, and Color Genomics have become pioneers and significant competitors in this market.

Other key players in the market are 24Genetics, Easy DNA, DNAfit, and My Heritage Ltd., among others.

The increased demand for complex and custom sequencing techniques, rising genetic testing services, and growing research to treat and diagnose genetic and infectious diseases have opened opportunities for companies to expand their product portfolios, increase automation facilitation, and develop novel consumer genetics solutions by adopting different strategic approaches.Some of the strategies followed by the contributors are new product launches and enhancements, agreements, collaborations, partnerships, acquisitions, and expansions.

For instance, in 2020, Eastern Biotech & Life Sciences launched Genoplan, which offers advanced genetic tests analyzing hundreds of medical, health, and well-being categories.

As the industry is new and currently unregulated, skepticism arises among government organizations and customers about the validity of the test results.Despite the good acceptance in some countries, few countries still require genetic counseling to be part of their mainstream genetic tests.

Companies can collaborate with physicians and genetic counselors to analyze the genetic test results or to pre-test counseling to the customers. This could also lead to opening a new distribution channel of the market, therefore increasing the sales of these genetic tests.

The direct-to-consumer genetic testing market has been widely accepted in North America and some regions of Europe, such as the U.K. as well as in few parts of Asia-Pacific. Companies exploring regions such as the U.A.E, China, South Korea, and EU5 can open many business opportunities. Establishes players as well as new entrants should be focusing on shaping the regulatory landscape for the different countries and paving the way for entry into the regulated market, thus gaining the confidence of the consumers. Expanding globally will result in the explosion of the market.

Furthermore, established key players in the market should work with governments to organize education and awareness programs for consumers and genetic counselors for effective interpretation of results, providing consumers a sense of empowerment, which will certainly help the growth of the market.Due to the limited awareness among consumers and training among primary physicians or genetic counselors, there are high chances of misinterpretation of results and inappropriate test utilization.

Professional support to the consumers will help the consumers to understand better about the outcomes and transform the reach of healthcare to the consumers.

Countries Covered North America U.S. Canada Europe Germany Italy France Spain U.K. Asia-Pacific China Japan India Australia South Korea Latin America Brazil Mexico Rest-of-Latin-America Rest-of-the-WorldRead the full report: https://www.reportlinker.com/p06129776/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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Global Direct-to-Consumer Genetic Testing Market: Focus on Direct-to-Consumer Genetic Testing Market by Product Type, Distribution Channel, 15...

Newswise DALLAS Aug. 19, 2021 A gene calledNpas4, already known to play a key role in balancing excitatory and inhibitory inputs in brain cells, appears to also be a master timekeeper for the brains circadian clock, new research led by UT Southwestern scientists suggests. Thefinding, published online today inNeuron, broadens understanding of the circadian clocks molecular mechanisms, which could eventually lead to new treatments for managing challenges such as jet lag, shift work, and sleep disorders.

To reset the circadian clock, you ultimately need to reset its molecular gears, said study leaderJoseph S. Takahashi, Ph.D.,Professor and Chair of Neuroscience at UTSW and a Howard Hughes Medical Institute Investigator. This study suggests thatNpas4might be one of the most important components for resetting the clock to light.

For decades, researchers have known that a brain region called the suprachiasmatic nucleus (SCN) is responsible for controlling circadian rhythms, the various cycles of activity that typically run on a 24-hour basis. These rhythms are entrained by light, Dr. Takahashi explained; cells in the SCN respond to signals relayed by the retina, the eyes light-sensitive tissue. However, the molecular basis of this phenomenon is not well understood.

To better understand how the SCN sets circadian rhythms, the researchers used a technique called single-nucleus sequencing to look at gene activity in individual cells in mice after the animals were exposed to light. Dr. Takahashi and his colleagues found that three different subpopulations of SCN neurons respond to light stimulation. A common thread tying these subtypes together was increased activity in genes that respond to neuronal PAS domain protein 4 (NPAS4), the protein made by theNpas4gene.

When Dr. Takahashi and his colleagues exposed mice engineered to lackNpas4to light, it dampened the response of hundreds of circadian clock genes. In addition, the animals circadian period lengthened about an extra hour, to nearly 25 hours instead of the normal 24. Together, these results suggest thatNpas4is a master regulator of many light-induced genes, a key piece in the puzzle of how the circadian system works, Dr. Takahashi said.

The more researchers learn about the molecular underpinnings of the circadian clock, Dr. Takahashi added, the more they may be able to manipulate it to improve health and well-being for example, to ease jet lag or help shift workers stay awake or asleep to match their work cycles. It could also lead to new treatments for disorders marked by abnormal sleep/wake cycles.

Other researchers who contributed to this research include Pin Xu, Stefano Berto, Ashwinikumar Kulkarni, Byeongha Jeong, Chryshanthi Joseph, Kimberly H. Cox, Tae-Kyung Kim, all of UT Southwestern; and Michael E. Greenberg of Harvard Medical School.

Dr. Takahashi holds the Loyd B. Sands Distinguished Chair in Neuroscience at UTSW. This work was a collaboration with thelaboratoryofGenevieve Konopka, Ph.D., Associate Professor of Neuroscience, the Jon Heighten Scholar in Autism Research, and Director of the UTSW Neurogenomics Core.Drs. Takahashi and Konopka are members of the Peter ODonnell Jr. Brain Institute.Dr. Kim, a Distinguished Scholar in Neuroscience, is also a member of the ODonnell Brain Institute.

This research was supported by grants from the National Institutes of Health (NS106657, DC014702, MH102603, NS028829), the Howard Hughes Medical Institute, the James S. McDonnell Foundation 21st Century Science Initiative in Understanding Human Cognition Scholar Award (220020467), and the Chan Zuckerberg Initiative, an advised fund of Silicon Valley Community Foundation (HCA-A-1704-01747).

About UTSouthwestern Medical Center

UTSouthwestern, one of the nations premier academic medical centers, integrates pioneering biomedical research with exceptional clinical care and education. The institutions faculty has received six Nobel Prizes, and includes 25 members of the National Academy of Sciences, 16 members of the National Academy of Medicine, and 13 Howard Hughes Medical Institute Investigators. The full-time faculty of more than 2,800 is responsible for groundbreaking medical advances and is committed to Southwestern physicians provide care in about 80 specialties to more than 117,000 hospitalized patients, more than 360,000 emergency room cases, and oversee nearly 3 million outpatient visits a year.

Original post:
A Master Gear in The Circadian Clock - Newswise

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Vigil Neuroscience, a biotechnology company harnessing the power of microglia for the treatment of neurodegenerative diseases, today announced the completion of a $90 million Series B financing to further advance Vigils proprietary pipeline of microglia-targeted medicines for the treatment of neurodegeneration. The financing was led by Vida Ventures with participation from existing investors Atlas Venture, Northpond Ventures and Hatteras Venture Partners as well as new investors including Surveyor Capital (a Citadel company), Cormorant Asset Management, Invus, OrbiMed, Rock Springs Capital, Deep Track Capital, Logos Capital, Pivotal bioVenture Partners, and Lightstone Ventures.

Vigil is developing both a fully human monoclonal antibody, VGL101, and small molecule agonists of triggering receptor on myeloid cells 2 (TREM2), an essential microglia sensor that mediates responses to environmental signals to maintain brain homeostasis. TREM2 is a compelling molecular target for neurodegeneration as it serves as a damage sensor of microglia with trophic function and plays a role in microglia response to CNS injury. The company expects to initiate a Phase 1 study to evaluate VGL101 in healthy volunteers on safety, pharmacokinetics and pharmacodynamics by year end 2021.

The first indication for VGL101 will be adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare inherited neurodegenerative disease caused by a mutation to the CSF1R gene for which there are no therapies currently approved by the FDA. VGL101 has the potential to address an estimated 10,000 people in the United States, with similar prevalence in Europe and Japan, living with this devastating disease. Microglia dysfunction is central to ALSP pathogenesis and Vigil believes TREM2 agonism with VGL101 can restore microglia function, thereby potentially providing therapeutic benefits to patients with the disease. ALSP represents the first indication in Vigils precision medicine strategy of applying learnings from rare indications with strong genetic, biochemical and pathophysiological associations to microglial deficiency to the development of microglia-based therapeutics in more common indications such as Alzheimers Disease. The company is planning to initiate a natural history study enrolling ALSP patients this fall to better understand disease characteristics and evaluate fluid and imaging biomarkers.

ALSP is a devastating disease that has a strong genetic link to microglia dysfunction and signaling deficiency. We plan to work closely with patients and their families to unravel the complexities of the disease and rapidly advance VGL101 through the clinic, said Ivana Magovevi-Liebisch, PhD, JD, President and Chief Executive Officer of Vigil. This financing will enable us to accelerate both our lead TREM2 activating monoclonal antibody in patients as well as advance our small molecule program through important milestones. The remarkable progress our team has made is a testament to our commitment to creating a better tomorrow for patients with neurodegenerative diseases. I applaud their efforts.

Vigil is also performing lead optimization in its small molecule program to develop novel first-in-class agonists of human TREM2 with a compelling profile of potency, solubility, oral bioavailability and CNS uptake. The company plans to apply learnings from its precision-based approach to the development of small molecule TREM2 agonists for more common neurodegenerative diseases such as Alzheimers Disease for which oral administration and high CNS penetrance can meaningfully impact disease treatment.

In conjunction with the closing of the financing, Stefan Vitorovic, Co-founder and Managing Director of Vida Ventures, will join the Vigil Board of Directors. We are delighted to lead this financing with an outstanding group of investors and world-class team. Our research has led us to conclude that there is substantial biological evidence to suggest that restoring the function of microglia plays a key role in arresting neurodegeneration, commented Mr. Vitorovic. Vigil is at the forefront of pioneering such innovative treatments, and I am excited about the potential of their novel precision medicine-based strategy to rapidly bring impactful medicines to patients.

We look forward to working with both the team from Vida as well as all our new and existing investors as we continue to build Vigil into a leading precision medicine company focused on microglia, said Bruce Booth, DPhil, Chairman of the Board of Vigil. We are fortunate to have these leading investors supporting our efforts, and we welcome Stefan to our Board.

About ALSP

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, inherited, autosomal dominant neurological disease with high penetrance. It is caused by a mutation to the CSF1R gene and affects an estimated 10,000 people in the US, with about 1,000 new cases annually. The disease generally presents itself in the fourth decade of life, is diagnosed through genetic testing and established clinical/radiologic criteria and is characterized by cognitive dysfunction, neuropsychiatric symptoms, and motor impairment. These symptoms typically exhibit rapid progression with a life expectancy of approximately 7 years on average after diagnosis, causing significant patient and caregiver burden. There are currently no approved products for the treatment of ALSP, underlining the high unmet need in this rare indication. Patients and caregivers can find more information on ALSP at http://www.alspinfo.com.

About Vigil Neuroscience

Vigil Neuroscience is a microglia-focused therapeutics company treating both rare and common neurodegenerative diseases by restoring the vigilance of microglia, the sentinel cells of the brains immune system. We are utilizing the tools of modern neuroscience drug development across multiple therapeutic modalities to rapidly deliver precision-based therapies to improve the lives of patients and their families. http://www.vigilneuro.com

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Vigil Neuroscience Completes $90 million Series B Financing to Advance a Pipeline of Microglia-targeted Medicines to Treat Rare and Common...

Several years ago, researchers at Massachusetts General Hospital (MGH) figured out a way to convert skin cells into muscle cells that were self-renewing and seemed promising for treating injuries and degenerative diseases like muscular dystrophy. But they werent quite sure how the conversion was happening.

Now they knowand they believe their insights could yield recipes for generating patient-matched muscle cells to treat a range of disorders.

The MGH researchers call their muscle cells myogenic progenitor cells (iMPCs). In a new study, published in the journal Genes & Development, they explain how adding three chemicals to skin cells causes them to transform into iMPCs.

A gene called MyoD can convert skin cells into muscle cells, but mature muscle cells cannot divide to create new muscle. In previous experiments, the researchers hit on three chemicals that could make skin cells revert to a stem-cell-like state instead, which would allow them to transform into self-renewing muscle cells.

The key, the MGH researchers discovered in the new study, is that the chemicals remove marks called methyl groups that are added to DNA in a process known as DNA methylation.

DNA methylation typically maintains the identity of specialized cells, and we showed that its removal is key for acquiring a muscle stem cell identity, said lead author Masaki Yagi, Ph.D., a research fellow at MGH, in a statement.

RELATED: Zebrafish reveal regenerative protein that could inspire new treatments for muscle-wasting diseases and aging

Its the latest study focused on finding new ways to regenerate muscle. Earlier this year, an Australian team reported that a protein called NAMPT could regenerate muscle in zebrafish and mouse models by amplifying a natural healing process in the body that occurs when macrophages migrate to injury sites.

Other research groups have focused on the role of the MyoD protein in healing. A Sanford Burnham Prebys team, for example, discovered that in aging people, old muscle stem cells can trigger a DNA damage response that blocks MyoD and prevents muscle cells from forming.

The MGH scientists believe their findings could be useful beyond muscle regeneration. The three-chemical cocktail could be used to generate stem cells for a variety of tissue types, senior author Konrad Hochedlinger, Ph.D., a principal investigator at the Center for Regenerative Medicine at MGH and a professor of medicine at Harvard Medical School, said.

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$8.8 million to fund research into interaction of specific genes with demographic, lifestyle factors

With an $8.8 million grant from the National Institutes of Health (NIH), researchers at Washington University School of Medicine in St. Louis will study how an individuals risks of cardiometabolic diseases are influenced by the interaction of specific genes with demographic and lifestyle factors.

Researchers at Washington University School of Medicine in St. Louis have received a four-year, $8.8 million grant to ramp up research aimed at unraveling how an individuals risks of cardiometabolic diseases, such as heart disease and Type 2 diabetes, are influenced by the interaction of specific genes with demographic and lifestyle factors.

Going beyond the small percentage of disease risk explained by genes alone, this study will explore how an individuals gender, race, ethnicity, smoking, alcohol use, diet and exercise levels may combine with genetic risks to trigger the metabolic processes that underlie heart disease.

By investigating genomic and lifestyle contributors to cardiometabolic health through their interactions across genders and diverse populations, our research can help advance the emerging field of precision medicine, said principal investigator D.C. Rao, PhD, professor of biostatistics, of genetics, of psychiatry and of mathematics.

Raos key co-investigators at the School of Medicine include cardiologist Lisa de las Fuentes, MD, professor of medicine and of biostatistics, and statistical geneticist C. Charles Gu, PhD, associate professor of biostatistics and of genetics.

Precision medicine uses information about a persons genetic makeup, metabolism and other biological and lifestyle factors to optimize strategies that potentially can prevent or treat a health condition. Such personalized approaches to treatment are more likely to be successful for individual patients, rather than a one-size-fits-all approach.

Funded by the National Institutes of Health (NIH), this new investigation will be the third in a series of similar studies in which Rao and his team use statistical analysis to identify gene-lifestyle interactions associated with cardiovascular and cardiometabolic diseases the leading causes of death in the United States and worldwide.

Their original study identified promising gene-lifestyle interactions, including several tied to African ancestry, but the study lacked the sample size necessary to robustly validate the interactions as statistically significant.

The current study, involving investigators from within and outside the U.S., will overcome that hurdle by expanding the sample size tenfold to include data from more than 1 million individuals, including people from several countries outside the United States. With a sample of 912,000 people of European ancestry, 231,000 of Asian ancestry, 91,000 of African ancestry and 33,000 of Hispanic ancestry, it will be the largest, most diverse investigation of gene-lifestyle interactions attempted.

By focusing heavily on gene-lifestyle interactions, Raos study represents a shift from traditional genomewide association studies (GWAS), which rapidly scan the genomes of many people to find genetic variations associated with a particular disease. His approach, known as a genomewide interaction study (GWIS), adds the potential to show how smoking, alcohol consumption, physical activity, obesity, sleep duration and other lifestyle factors interact with genes to influence high blood pressure, diabetes, cholesterol levels and other metabolic traits that may increase the risk of a heart attack or stroke.

The study aims to identify new gene-lifestyle interactions that contribute to cardiometabolic disease risk, and to better understand the molecular mechanics underlying these interactions, Gu said. By detailing associated molecular biomarkers and traits, such as DNA methylation, gene expression and metabolites, the study could reveal new opportunities for disease intervention.

Added de las Fuentes: Our findings could reveal new diagnostic and therapeutic tools, identify targets for novel drug development and serve as the foundation for a more precise, more personalized approach to health care for heart disease, diabetes, and other metabolic diseases. This project has high potential to move the field forward.

Washington University School of Medicines 1,700 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.

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Research to explore how genes, other factors affect cardiometabolic disease risk Washington University School of Medicine in St. Louis - Washington...

SAN FRANCISCO, Aug. 12, 2021 /PRNewswire/ --The global regenerative medicine marketsize is expectedto reach USD 57.08 billion by 2027, growing at a CAGR of 11.27% over the forecast period, according to a new report by Grand View Research, Inc. Recent advancements in biological therapies have resulted in a gradual shift in preference toward personalized medicinal strategies over the conventional treatment approach. This has resulted in rising R&D activities in the regenerative medicine arena for the development of novel regenerative therapies.

Key Insights & Findings:

Read 273 page research report, "Regenerative Medicine Market Size, Share & Trends Analysis Report By Product (Cell-based Immunotherapies, Gene Therapies), By Therapeutic Category (Cardiovascular, Oncology), And Segment Forecasts, 2021 - 2027", by Grand View Research

Furthermore,advancements in cell biology, genomics research, and gene-editing technology are anticipated to fuel the growth of the industry. Stem cell-based regenerative therapies are in clinical trials, which may help restore damaged specialized cells in many serious and fatal diseases, such as cancer, Alzheimer's, neurodegenerative diseases, and spinal cord injuries. For instance, various research institutes have adopted Human Embryonic Stem Cells (hESCs) to develop a treatment for Age-related Macular Degeneration (AMD).

Constant advancements in molecular medicines have led to the development of gene-based therapy, which utilizes targeted delivery of DNA as a medicine to fight against various disorders. Gene therapy developments are high in oncology due to the rising prevalence and genetically driven pathophysiology of cancer. The steady commercial success of gene therapies is expected to accelerate the growth of the global market over the forecast period.

Grand View Research has segmented the global regenerative medicine market on the basis of product, therapeutic category, and region:

List of Key Players of Regenerative Medicine Market

Check out more studies related to Global Biotechnology Industry, conducted by Grand View Research:

Gain access to Grand View Compass, our BI enabled intuitive market research database of 10,000+ reports

About Grand View Research

Grand View Research, U.S.-based market research and consulting company, provides syndicated as well as customized research reports and consulting services. Registered in California and headquartered in San Francisco, the company comprises over 425 analysts and consultants, adding more than 1200 market research reports to its vast database each year. These reports offer in-depth analysis on 46 industries across 25 major countries worldwide. With the help of an interactive market intelligence platform, Grand View Research helps Fortune 500 companies and renowned academic institutes understand the global and regional business environment and gauge the opportunities that lie ahead.

Contact:Sherry JamesCorporate Sales Specialist, USAGrand View Research, Inc.Phone: 1-415-349-0058Toll Free: 1-888-202-9519Email: sales@grandviewresearch.comWeb: https://www.grandviewresearch.comFollow Us: LinkedIn| Twitter

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Regenerative Medicine Market Size Worth $57.08 Billion By 2027: Grand View Research, Inc. - Markets Insider

VTX-801 Receives U.S. FDA Fast Track Designation for the Treatment of Wilson Disease

Paris, France and New York, NY, August 12, 2021 Vivet Therapeutics (Vivet), a clinical-stage biotechnology company, and Pfizer Inc. (NYSE: PFE) today announced the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to VTX-801, Vivets clinical-stage gene therapy for the treatment of Wilson Disease a rare, genetic disorder that reduces the ability of the liver and other tissues to regulate copper levels, causing severe hepatic damage, neurological symptoms, and potentially death. The FDAs Fast Track program is designed to facilitate the development, and expedite the review of, novel potential therapies that are designed to treat serious conditions and fill unmet medical need.

VTX-801 is a novel investigational gene therapy to be evaluated in a Phase 1/2 clinical trial to determine the safety, tolerability, and pharmacological activity of a single intravenous infusion in adult patients with Wilson Disease. Pfizer is collaborating with Vivet on the clinical supply of VTX-801 for the Phase 1/2 clinical trial.

The FDAs decision to grant VTX-801 Fast Track designation underscores the urgent need for new therapeutic options to address this devastating disease, which, if left untreated, can be fatal, said Seng Cheng, Senior Vice President and Chief Scientific Officer of Pfizers Rare Disease Research Unit. We are pleased to collaborate with Vivet on this important development program, which we believe, if successful, could make a meaningful difference in the lives of patients living with Wilson Disease.

Dr. Michael Schilsky, Principal Investigator at Yale University School of Medicine (Connecticut, United States), said, We are proud to participate in this important clinical trial. If VTX-801 is successfully developed, it has the potential to be a truly innovative medicine with the ability to restore copper metabolism after a single injection, addressing significant unmet medical needs for patients with Wilson Disease.

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With the FDAs authorization of the IND application for VTX-801 combined with Pfizers state-of-the-art gene therapy manufacturing capabilities we are well-positioned to rapidly advance development of this potential therapy, concluded Jean-Philippe Combal, CEO and co-founder of Vivet.

About Fast Track designation

Fast Track is a process designed to facilitate the development, and expedite the review of, drugs to treat serious conditions that address an unmet medical need, by providing a therapy where none exists or providing a therapy which may be potentially better and shows some advantage over available therapy. Fast Track designation includes opportunities for more frequent meetings with the FDA to discuss trial design, development plans, data needed to support drug approval, submission of a New Drug Application (NDA) on a rolling basis, and eligibility for accelerated approval and priority review, if relevant criteria are met.

Visit FDAs website for more information

About VTX-801

VTX-801 is a novel investigational gene therapy for Wilson Disease, which has been granted Orphan Drug Designation (ODD) by the Food and Drug Administration (FDA) and the European Commission (EC) and Fast Track designation by the FDA. Wilson Disease, a rare genetic disorder, is caused by mutations in the gene encoding the ATP7B protein, which reduces the ability of the liver and other tissues to regulate copper levels, causing severe hepatic damage, neurologic symptoms and potentially death.

VTX-801 is a novel, investigational rAAV-based gene therapy vector designed to deliver a miniaturized ATP7B transgene encoding, a functional protein that has been shown to restore copper homeostasis, reverse liver pathology and reduce copper accumulation in the brain of a mouse model of Wilson Disease. VTX-801s rAAV serotype was selected based on its demonstrated tropism for transducing human liver cells.

About GATEWAY - Phase 1/2 Clinical Trial of VTX-801 in Wilson Disease

The GATEWAY trial (NCT04537377) is a multi-center, non-randomized, open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability, and pharmacological activity of a single intravenous infusion of VTX-801 in adult patients with Wilson Disease, prior to and following background WD therapy withdrawal.

Six leading centers in the United States and Europe are expected to participate in the GATEWAY Phase 1/2 trial. The trial is expected to enroll up to sixteen adult patients with Wilson Disease and will evaluate up to three doses of VTX-801. Patients will participate in a pre-dosing observational period and will be administered a prophylactic steroid regimen.

The primary endpoint of the GATEWAY trial is to assess the safety and tolerability of VTX-801 at 52 weeks after a single infusion. Additional endpoints include changes in disease-related biomarkers, including free serum copper and serum ceruloplasmin activity, as well as radiocopper-related parameters and VTX-801 responder status to allow standard-of-care withdrawal.

A list of sites, contact information and more details on the study are available on:https://clinicaltrials.gov/ct2/show/NCT04537377

To learn more about gene therapy on Wilson Disease, visit: https://patienteducation.asgct.org/

About Vivet Therapeutics

Vivet Therapeutics is a clinical-stage emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases.

Vivet is building a diversified gene therapy pipeline based on novel recombinant adeno-associated virus (rAAV) technologies developed through its partnerships with, and exclusive licenses from, the Fundacin para la Investigacin Mdica Aplicada (FIMA), a not-for-profit foundation at the Centro de Investigacin Medica Aplicada (CIMA), University of Navarra based in Pamplona, Spain.

Vivets lead program, VTX-801, is currently under clinical development.

Vivets second gene therapy product, VTX-803 for PFIC3, received US and European Orphan Drug Designation in May 2020.

Vivet is supported by international life science investors including Novartis Venture Fund, Roche Venture Fund, HealthCap, Pfizer Inc., Columbus Venture Partners, Ysios Capital, Kurma Partners and Idinvest Partners.

Please visit us at http://www.vivet-therapeutics.com and follow us on Twitter at @Vivet_tx, on Facebook at Facebook/Vivet-Therapeutics and LinkedIn.

About Pfizer: Breakthroughs That Change Patients Lives

At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. We strive to set the standard for quality, safety and value in the discovery, development and manufacture of health care products, including innovative medicines and vaccines. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Consistent with our responsibility as one of the world's premier innovative biopharmaceutical companies, we collaborate with health care providers, governments and local communities to support and expand access to reliable, affordable health care around the world. For more than 170 years, we have worked to make a difference for all who rely on us. We routinely post information that may be important to investors on our website at http://www.Pfizer.com. In addition, to learn more, please visit us on http://www.Pfizer.com and follow us on Twitter at @Pfizer and @Pfizer News, LinkedIn, YouTube and like us on Facebook at Facebook.com/Pfizer.

Pfizer Disclosure Notice

The information contained in this release is as of August 12, 2021. Pfizer assumes no obligation to update forward-looking statements contained in this release as the result of new information or future events or developments.

This release contains forward-looking information about Vivet Therapeutics (Vivet) investigational gene therapy, VTX-801, including its potential benefits, that involves substantial risks and uncertainties that could cause actual results to differ materially from those expressed or implied by such statements. Risks and uncertainties include, among other things, the uncertainties inherent in research and development, including the ability to meet anticipated clinical endpoints, commencement and/or completion dates for our clinical trials, regulatory submission dates, regulatory approval dates and/or launch dates, as well as the possibility of unfavorable new clinical data and further analyses of existing clinical data; the risk that clinical trial data are subject to differing interpretations and assessments by regulatory authorities; whether regulatory authorities will be satisfied with the design of and results from the clinical studies; whether and when any applications may be filed in any jurisdiction for VTX-801; whether and when any such applications may be approved by regulatory authorities, which will depend on myriad factors, including making a determination as to whether the products benefits outweigh its known risks and determination of the products efficacy and, if approved, whether VTX-801 will be commercially successful; decisions by regulatory authorities impacting labeling, manufacturing processes, safety and/or other matters that could affect the availability or commercial potential of VTX-801; uncertainties regarding the impact of COVID-19 on Pfizers business, operations and financial results; and competitive developments.

A further description of risks and uncertainties can be found in Pfizers Annual Report on Form 10-K for the fiscal year ended December 31, 2020 and in its subsequent reports on Form 10-Q, including in the sections thereof captioned Risk Factors and Forward-Looking Information and Factors That May Affect Future Results, as well as in its subsequent reports on Form 8-K, all of which are filed with the U.S. Securities and Exchange Commission and available at http://www.sec.gov and http://www.pfizer.com.

Contacts

Vivet Media Contact: Thomas Daniel-Robintdaniel@vivet-therapeutics.com

Pfizer Media Contact: Jerica Pitts212-733-1226Jerica.Pitts@pfizer.com

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VTX-801 Receives U.S. FDA Fast Track Designation for the Treatment of Wilson Disease - Yahoo Finance