Category Archives: Genetic medicine

ST. LOUIS--(BUSINESS WIRE)--M6P Therapeutics (M6PT or the Company), a privately held life sciences company developing next-generation recombinant enzyme and gene therapies for lysosomal storage disorders (LSDs), today announced that it will host a key opinion leader (KOL) webinar on LSDs on Wednesday, July 28, 2021 at 10:00 a.m. ET.

The webinar will feature a fireside chat with KOLs Gregory Enns, M.D., Lucile Salter Packard Childrens Hospital Stanford School of Medicine, and Mark S. Sands, Ph.D., Departments of Medicine and Genetics at Washington University School of Medicine, who will discuss the current treatment landscape and unmet medical needs in LSDs, including Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidoses, and mucolipidoses. LSDs are a family of approximately 50 rare, genetic, and life-threatening diseases characterized by a deficiency in a specific lysosomal enzyme.

The event will also feature an update from the M6PT management team on its recombinant enzyme and gene therapy S1S3 bicistronic technology platform for the treatment of LSDs. The Company plans to initiate its first clinical program in 2022.

Dr. Enns, Dr. Sands, and M6PT management will also take questions from the audience.

To register for the webinar, please click here.

Dr. Enns is a Professor of Pediatrics and Genetics at the Lucile Salter Packard Childrens Hospital Stanford School of Medicine. He completed his medical education at the University of Glasgow (1990) in Scotland and completed his residency at the Children's Hospital Los Angeles Pediatric Residency in California. He then went on to complete his fellowship at the UCSF Medical Center in California. He is board certified in Clinical Genetics and Genomics. Dr. Enns research interests include novel means of diagnosing and treating mitochondrial disorders, with an emphasis on antioxidant therapy, lysosomal disorders, and newborn screening by tandem mass spectrometry. His current pursuits include the analysis of glutathione and antioxidant status in patients who have mitochondrial disorders and the development of new techniques for diagnosing and treating these conditions.

Dr. Sands is a Professor in the Departments of Medicine and Genetics at Washington University School of Medicine in St. Louis. Dr. Sands received his Ph.D. in Molecular Pharmacology from the State University of New York at Stony Brook. He was a postdoctoral fellow at The Jackson Laboratory (Bar Harbor, ME) and at the University of Pennsylvania School of Veterinary Medicine before joining the faculty at Washington University School of Medicine. The goals of Dr. Sands laboratory are to better understand the underlying pathogenesis and developing effective therapies for inherited childhood diseases, specifically LSDs. A major focus of his group is to determine the safety and efficacy of adeno-associated viral gene transfer vectors for the treatment of both the central nervous system (CNS) and systemic manifestations of these diseases. In addition, his group has developed lentiviral-mediated hematopoietic stem cell-directed gene therapy approaches, as well as small molecule drugs, and more recently rational combinations of these approaches. The primary diseases that Dr. Sands studies are mucopolysaccharidosis type VII (MPS VII), Krabbe disease, and Infantile Neuronal Ceroid Lipofuscinosis.

About M6P Therapeutics

M6P Therapeutics is a privately held, venture-backed biotechnology company developing the next-generation of targeted recombinant enzyme and gene therapies for lysosomal storage disorders (LSDs). M6P Therapeutics proprietary S1S3 bicistronic platform has the unique ability to enhance phosphorylation of lysosomal enzymes for both recombinant enzyme and gene therapies, leading to improved biodistribution and cellular uptake of recombinant proteins and efficient cross-correction of gene therapy product. This can potentially lead to more efficacious treatments with lower therapy burden, as well as new therapies for currently untreated diseases. M6P Therapeutics team, proven in rare diseases drug development and commercialization, is dedicated to fulfilling the promise of recombinant enzyme and gene therapies by harnessing the power of protein phosphorylation using its S1S3 bicistronic platform. M6P Therapeutics mission is to translate advanced science into best-in-class therapies that address unmet needs within the LSD community. For more information, please visit: http://www.m6ptherapeutics.com.

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M6P Therapeutics to Host Key Opinion Leader Webinar on Lysosomal Storage Disorders - Business Wire

MADISON, Wis.A new collaboration between UW Health, the Waisman Center and the UW School of Medicine and Public Health aims to discover, diagnose and ultimately better understand rare genetic diseases.

The UW Center for Human Genomics and Precision Medicine at the UW School of Medicine and Public Health recently opened its first patient clinic, the UW Undiagnosed Genetic Disease Clinic, which is for people with undiagnosed genetic diseases, creating a vital local hub in a global community of experts dedicated to solving medical mysteries with state of the art technologies for people whose conditions remain undiagnosed despite an extensive prior clinical workup.

The clinic has a three-fold mission: to provide a diagnosis to patients who in many cases have searched for years for an answer about what is causing their conditions, to better understand the conditions once they are identified and to discover new genes which can cause human disease according to Dr. Stephen Meyn, director, UW Center for Human Genomics and Precision Medicine.

There are more than 7,000 known rare genetic conditions, each of which affects fewer than 5,000 people in the United States. However, though these conditions are individually rare, collectively rare diseases affect 1 in 12 people, which means approximately 450,000 people in Wisconsin have a rare disease. The underlying genetic causes have only been identified for about half of those individuals affected with these conditions. Many are children whose families spend years conferring with different specialists on long, and often stressful, diagnostic journeys.

This is a research effort, but the focus is on the patient, Meyn said. When we think about how we can help these people, it is by diagnosing them so they and their healthcare providers can better understand their conditions and live their lives to their highest potential.

The clinic has a core staff of medical geneticists, genetic counselors and researchers working in partnership with researchers and lab technicians at the Wisconsin State Laboratory of Hygiene and the Biotechnology Center at UW-Madison as well as Stanford University and The Hospital for Sick Children in Toronto, Canada. In addition, multiple UW Health clinical consultants are contributing their expertise about specific management and treatment strategies. The clinic will be located at the Waisman Center near University Hospital in Madison.

Patients will be referred by their healthcare provider. Referrals are evaluated and those patients who are most likely to benefit from the clinic and associated research study.

From there, patients are seen in the clinic by UW Health geneticists, genetic counselors and specialists who are experts on the patients symptoms. Eligible individuals are recruited into the clinics research study and blood and/or skin samples are taken for analyses from the patient and the patients close family members. Patients will be accepted into the study if their symptoms are likely due to a single genetic cause and the patient has exhausted standard genetic testing.

Patient information is housed privately and securely on servers at UW Health and SMPH and shared safely with collaborators to provide advanced genomics and other technologies not available to patients on a clinical basis.

We are pushing the technological envelope to find answers for these families, to learn more about these diseases, and to help develop cures, Meyn said.

The centers analyses of the genetic information can go beyond just examining all of the protein-coding regions of genes, called the exome, by analyzing the entire genome, including the 8 to 12% of the genome that standard genomic analyses can miss. The clinic and its North American collaborators also can study patients RNA, and small biological compounds called metabolites, Meyn said.

Beyond accessing cutting-edge technology and consulting medical experts from different specialties, the clinic has links to rare genetic disease researchers, clinicians and patient organizations worldwide.

Madison is becoming part of an international network of researchers and clinicians that focuses on rare genetic diseases, Meyn said. Were working to give patients access to the latest technology and expertise here at UW, but also from this global community.

Referring physicians can learn more about the clinic by visiting itswebsite.

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UW Health: Innovative UW Undiagnosed Genetic Disease Clinic seeks to identify rare genetic conditions - Wisbusiness.com

WASHINGTON, July 19, 2021 /PRNewswire/ --A recently published article in Experimental Biology and Medicine (Volume 246 Issue 13, July, 2021)describes a new genetic mutation linked to hearing impairment. The study, led by Dr. Ambroise Wonkam in the Division of Human Genetics, Faculty of Health Sciences at the University of Cape Town (South Africa), reports a variant of the DMXL2 gene in Cameroonian families with hearing impairment.

The inability to hear properly in one or both ears impacts nearly 6% of the global population. Hearing impairment can be caused by environmental or genetic factors. However, establishing a definitive genetic cause can prove difficult in some cases. Approximately 70% of genetic related hearing impairment cases are non-syndromic and occur without the presence of other clinical factors. Over 120 genes have been linked to non-syndromic hearing impairment.While most cases in Europe and Asia can be traced to variants in a single gene, the GJB2 gene, the etiology of African non-syndromic hearing impairment cases is unresolved.

In this study, Dr. Wonkam and colleagues used direct sequencing methods to analyze DNA samples from a Cameroonian family with non-syndromic hearing impairment (NSHI). A mono-allelic missense variant [NM_015263.5:c.918G>T; p.(Q306H)] was identified in the DMXL2 gene in this family.This variant was present in the heterozygous state in the affected mother and the two affected children (one male and one female), and absent from the other two unaffected children (one male and one female). The variant was absent from many genome databases, over 120 control individuals from Cameroon, and 112 isolated cases of NSHI from Cameroon. This is the first report implicating DMXL2 in NSHI in Africans and confirms a previous report of this variant in China.Dr. Wonkam said, "DMXL2 is now a confirmed NSHI candidate gene in Cameroon, and more studies are needed to assess its implication in other populations around the world."

Dr. Steven R. Goodman, Editor-in-Chief of Experimental Biology & Medicine, said "Dr. Wonkam and colleagues have identified a mono-allelic variant in DMLX2, also called rabconnectin-3a (RC3), in a Cameroonian family with hearing impairment. A similar variant was previously found in a Han Chinese family. It is very interesting that RC3 is found on inner ear hair cells and is a part of a synaptic vesicle protein complex involved in Ca2+-dependent neurotransmitter release in brain. Future studies aimed at a detailed understanding of the role of DMXL2 in hearing impairment is warranted."

Experimental Biology and Medicine is a global journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences. The journal was first established in 1903. Experimental Biology and Medicine is the journal of the Society of Experimental Biology and Medicine. To learn about the benefits of society membership visit http://www.sebm.org. If you are interested in publishing in the journal, please visit http://ebm.sagepub.com.

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Advances in the Genetic Etiology of Hearing Impairment - PRNewswire - PRNewswire

A future where autism care is personalized to fit an individuals unique genetic makeup is now one step closer to reality, thanks to a new big data initiative.

Known as the Autism Sharing Initiative, the project is bringing together autism researchers from around the world to create the first global network for sharing clinical and genetic dataa move that will accelerate autism research and support the development of personalized care and treatment options.

Dr. Suzanne Lewis

Geneticist Dr. Suzanne Lewis, a clinical professor in UBC faculty of medicines department of medicine, is among the international team of autism researchers and is leading efforts underway at UBC and BC Childrens Hospital Research Institute (BCCHR).

Here, she discusses the genetics of autism and shares how this new initiative will advance research and potentially alter the future of diagnosis and treatment for the nearly one in 66 Canadians living with autism.

The first clue that genetics played a role in autism emerged nearly 50 years ago when researchers found that identical twins shared an autism diagnosis much more frequently than non-identical twins.

Today, we know there are a long list of genes implicated in autismand that list is growing.

Many of these genes are involved in controlling communication between neurons, the information messengers of our body.

Because theres not a single type of autism, but rather a full spectrum of autism subtypesall of which are influenced by a combination of genetic as well as environmental factorsunderstanding the mechanisms involved in autism is a complex undertaking.

Were gaining new insights every day but are really just at the tip of the iceberg.

Up until now, our ability to understand the genetic factors involved in autism has been limited by the specific data available at our individual institutions.

Using new technology, the Autism Sharing Initiative will enable international collaboration between institutions, allowing researchers like me to use powerful artificial intelligence methods to search and analyze multiple, de-identified genomic and patient datasets from around the world.

By having access to more information, well be able to uncover genetic insights into autism at a pace that wouldnt have been possible before.

Through a unique UBC-based project called iTARGET (individualized Treatments for Autism Recovery using Genetic and Environmental Targets), our team based at UBC and BCCHR is already taking a personalized approach to understanding autism patients.

We have sequenced more than 700 whole genomes of patients and their parents and are evaluating this information in the context of everything from the patients symptoms to their microbiome (all the microorganisms living in their bodies) in order to get a full picture and deeper understanding of the different and incredibly complex causes of autism.

As a partner in the Autism Sharing Initiative, this rich dataset will now be available to researchers in other parts of the world.

For a long time, autism diagnosis and treatment has taken a one-size-fits-all approach. Symptoms have been treated without a deep understanding of whats causing those symptoms.

Fortunately, things are now changing and autism is increasingly recognized as not just autism, but many different subtypes.

Now, by working across institutional boundaries, well be able to better recognize emerging autism subtypes, which can help inform diagnosis and treatment.

If we know a little bit more about the genetics involved, for example, we can offer more tailored care. This is particularly important when it comes to selecting medications for children as they are incredibly sensitive to drugs and often show paradoxical reactions, whereby the medication does the opposite of what you want it to do and actually makes a particular symptom worse.

UBC is a partner in the Autism Sharing Initiative, supported by Canadas Digital Technology Supercluster.

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UBC researcher embraces big data, helping uncover deeper insights into the genetics of autism - UBC Faculty of Medicine

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Tessera Therapeutics, a biotechnology company pioneering a new approach in genetic medicine known as Gene Writing, announced today the appointment of Howard Liang, Ph.D., as President and Chief Financial Officer. The company also expanded its executive bench with newly promoted talent and hires: Madhusudan Peshwa, Ph.D., as Chief Technology Officer for Cell Therapy; Bill Querbes, Ph.D., as Senior Vice President, Therapeutic Discovery & Translational Sciences; Cecilia Cotta-Ramusino, Ph.D. as Senior Vice President, Platform Development; Vikram Ranade, Ph.D., as Senior Vice President, Corporate Development; David Pollard, Ph.D., as Head of Bioprocess, and Steve Garbacz as Head of Finance.

These additions represent the latest leadership expansion for the company, following the appointments of Elliott Sigal, M.D., Ph.D., and Mary Rozenman, Ph.D., to the Board of Directors in June, and the appointments of David Davidson, M.D., as Chief Medical and Development Officer, Hari Pujar, Ph.D., as Chief Operating Officer, and Lin Guey, Ph.D., as Senior Vice President of Rare Diseases Program Strategy and Operations in March. Tessera also announced the successful completion of $230 million Series B financing in January.

Outstanding people are the lifeblood of great companies and Im thrilled to welcome these accomplished individuals to the Tessera leadership team, said Dr. Geoffrey von Maltzahn, CEO and Co-Founder of Tessera and General Partner, Flagship Pioneering. Howards track record in both strategy and finance at BeiGene and in the capital markets will play a key role in guiding Tessera to new territory in Gene Writing. I am excited to be working with him, and our other new senior leaders, each of whom will be instrumental in expanding the limits of how we discover life-changing medicines.

Howard Liang, Ph.D., President and Chief Financial OfficerHoward Liang joined Tessera in 2021 as President and Chief Financial Officer. Dr. Liang brings nearly three decades of combined experience in management, financing, strategy, and research in the biotechnology and pharmaceutical industries and investment research on Wall Street. Prior to joining Tessera, he was Chief Financial Officer and Chief Strategy Officer at BeiGene for six years, where he was a member of the senior team that led the companys growth from a research organization with fewer than 200 employees to a fully integrated global biotechnology company with more than 6,000 employees on five continents. At BeiGene, he led the companys IPOs on NASDAQ and the Hong Kong Stock Exchange and its ongoing effort to list on the Shanghai Stock Exchange, raising more than $8 billion to date through equity and alternative financings, and overseeing the growth of the companys market capitalization from less than $300 million to more than $30 billion during his tenure. Prior to BeiGene, Dr. Liang spent 10 years at Leerink Partners, where he was Managing Director and Head of Biotechnology Equity Research. His prior investment research experience included positions at A.G. Edwards, JMP Securities, and Prudential Securities, covering biotechnology, and major and specialty pharmaceutical sectors. He started his career in R&D at Abbott Laboratories, where he was a Senior Scientist and member of an industry-leading structure-based drug discovery team. Dr. Liang is a member of the Hong Kong Stock Exchange Biotech Advisory Panel. He was named a member of the All-America Research Team by Institutional Investor magazine and Best of the Street by The Wall Street Journal. As a scientist, he authored 14 papers, including 6 in Nature, Science, and Proceedings of the National Academy of Sciences, and a review in the Journal of Molecular Biology. He received his Ph.D. in Biochemistry and Molecular Biology and M.B.A. from the University of Chicago and his B.S. in Chemistry from Peking University.

Tessera is developing a first-of-its-kind technology with the potential to cure diseases across multiple categories by writing in the code of life itself, said Dr. Howard Liang. I look forward to helping the company realize the full breadth of Gene Writings potential.

Madhusudan Peshwa, Ph.D., Chief Technology Officer for Cell TherapyDr. Peshwa joined Tessera in May 2021 and is responsible for developing the strategy and executing the operating plan encompassing the design, development, and manufacture of Tesseras proprietary mobile gene element engineered cell therapy product portfolio. Recently, in March 2020, Dr. Peshwa was inducted into the College of Fellows at the American Institute for Medical and Biological Engineering (AIMBE), in recognition of Lifetime contributions in Regenerative Medicine to the advancements in the field of cell & gene therapies.

Prior to joining Tessera, Dr. Peshwa was CTO at Mana Therapeutics, an immunotherapy company focused on the development of allogeneic, multi-tumor-antigen-targeted, non-engineered, T-cell immunotherapies with additional oversight of Quality Assurance and Quality Control functions. Previously, Dr. Peshwa was CTO and Global Head of R&D for the Cell and Gene Therapies business at GE Healthcare (GEHC), with responsibilities that include GEHCs CGT product and service portfolio to enable and accelerate the development of robust, scalable, industrialized manufacturing and delivery of cell and gene therapies. Prior to these roles, Dr. Peshwa held various executive positions at MaxCyte, Inc., NewNeural LLC, and Dendreon Corporation. At MaxCyte, as CSO and EVP, Cellular Therapies, Dr. Peshwa was responsible for leading the development and commercialization of ex vivo cell loading platform technology. Additionally, he also established MaxCytes proprietary therapeutic product portfolio with lead program being a non-viral mRNA engineered CAR Immunotherapy (CARMA) with one-day manufacturing process under company sponsored IND for treatment of solid cancers; and additional collaborative programs under CRADA Agreement with Investigators at NIAID and NHLBI, for ex vivo gene correction in autologous hematopoietic stem cells, as cell therapy for potential treatment of monogenic diseases. As Vice President of Process Sciences and Manufacturing, at Dendreon Corporation, Dr. Peshwa was responsible for leading the CMC and GMP manufacturing for Provenge (Sipuleucel-T), an autologous cellular immunotherapy product for treatment of prostate cancer, the first ever active cellular immunotherapy product approved by the US FDA.

In addition to his broad industry experience, Dr. Peshwa has served as Principal Investigator / Co-Investigator on multiple grant-funded research studies, is an inventor of six issued US patents in the field of cell therapy, and has served in various consultative, advisory, and board capacities to industry, government, not-for-profit, and financial organizations. Dr. Peshwa earned his Ph.D. in Chemical Engineering from the University of Minnesota and his B.Tech. in Chemical Engineering from the Indian Institute of Technology in Kanpur, India.

Tesseras Gene Writing platform represents an opportunity to drive a fundamental change in our ability to treat disease, said Dr. Madhusudan Peshwa. I look forward to joining the executive team to help move Tesseras bold mission forward.

Bill Querbes, Ph.D., Senior Vice President, Therapeutic Discovery & Translational SciencesBill Querbes joined Tessera in April of 2021 as Senior Vice President of Therapeutic Discovery and Translational Sciences. He brings a strong background in genetic medicine and a passion for rare disease drug development with over 15 years of experience leading cross-functional teams from early discovery through clinical trials.

Before joining Tessera, Dr. Querbes held the position of Vice President and Fabry Program Lead at AVROBIO. Prior to this role, as Senior Director at Synlogic, he led clinical program teams in PKU and urea cycle disorders. Earlier in his career he spent 12 years at Alnylam Pharmaceuticals where he made important contributions to the maturation of both the siRNA delivery platforms and therapeutic pipeline. Dr. Querbes led the discovery and early clinical development of GIVLAARI (givosiran) for the treatment of acute hepatic porphyria, which was the first FDA approved RNAi therapeutic utilizing GalNAc conjugate technology.

He holds a B.S. in Biology from SUNY Geneseo and a Ph.D. from Brown University.

Cecilia Cotta-Ramusino, Ph.D., Senior Vice President, Platform DevelopmentCecilia Cotta-Ramusino joined Tessera in 2019 as the Head of Platform Development. She drives the discovery and optimization of novel Gene Writers, enabling their translation into gene therapy tools. Dr. Cotta-Ramusino has spent more than 20 years in academia and biotech, working in the areas of gene editing, cell engineering, and DNA damage. Dr. Cotta-Ramusino was the first employee at insitro where she was the Head of Functional Genomics. Prior to insitro, she was one of the first scientists hired at Editas, the first CRISPR-based therapeutic company, where she helped to define and shape the vision of the Editas platform. She spearheaded numerous academic collaborations devoted to platform optimization and led the development of a T cell gene therapy treatment aiming to treat an immunodeficiency disease. She conducted her postdoc in Steve Elledges lab at Harvard Medical School where she performed whole genome high-throughput screens in mammalian cells using siRNA/shRNA to identify novel components of the DNA damage response. Dr. Cotta-Ramusino obtained her Ph.D. in genetics at University of Milan, Italy and has been principal author and co-author on several publications in high impact factor journals, such as Science, Nature, Nature Communications and Molecular Cell. She has invented several foundational patents in all of the early-stage companies in which she has worked.

Vikram Ranade, Ph.D., Senior Vice President, Corporate DevelopmentDr. Ranade joined Tessera in 2020 as the Head of Corporate Development. In this role, he drives corporate strategy, business development, and investor relations for Tessera.

Dr. Ranade was previously at McKinsey & Company, where he was an Associate Partner in the healthcare practice. At McKinsey, he worked with large biopharma and early-stage biotech companies on strategy, M&A, and R&D topics. He led diligence efforts for more than $15B in completed deals and advised on clinical strategy for more than 20 programs. Dr, Ranade also co-led McKinseys Center for Asset Optimization, which focuses on clinical-stage asset development strategy. He holds a Ph.D. in Genetics and Development from Columbia University, where he studied transcriptional regulation of developmentally important genes at the molecular level. He has a B.S. in biochemistry from Brandeis University, where he was awarded highest honors for his research on DNA damage repair pathways.

David Pollard, Ph.D., Head of BioprocessDavid Pollard has over 25 years of bioprocess development for a range therapeutics including novel mAbs, peptides, anti infectives, biocatalysts and more recently cell and gene therapies. During his career at Merck & Co. Inc, Dr. Pollard led early and late stage CMC teams, providing contributions to multiple INDs & BLAs for Biologics & Vaccines. Dr. Pollard also led an innovation team that co-developed the state-of-the-art ambr250 high throughput bioreactor system and also pioneered lights out automated continuous mAb production. More recently Dr. Pollard pursued processing for personalized neoantigen T cell therapies and helped create corporate research for the technology provider Sartorius. Dr. Pollard will help Tessera drive digital workflows and high throughput automation to accelerate sustainable gene therapy process development.

Steve Garbacz, Head of FinanceSteve Garbacz joined Tessera in 2021 as the Head of Finance and is responsible for financial reporting, planning, taxes, and treasury. Garbacz has more than 25 years of experience in financial management for a range of companies, including Biogen, Epizyme, Spero, and Anika. He has a passion for building scalable financial organizations leveraging new technology, and drove successful IPOs at Epizyme and Spero. At Anika, Garbacz was a key leader in acquiring and integrating two private companies. Garbacz has a B.S. in Economics from George Mason University and an MBA in Finance from the Leonard Stern School of Business at New York University.

For more information about Tessera, including how Gene Writing works, partnership opportunities, and job openings, visit http://www.tesseratherapeutics.com.

About Tessera TherapeuticsTessera Therapeutics is an early-stage life sciences company pioneering Gene Writing, a new biotechnology designed to offer scientists and clinicians the ability to write small and large therapeutic messages into the genome, thereby curing diseases at their source. Gene Writing holds the potential to become a new category in genetic medicine, building upon recent breakthroughs in gene therapy and gene editing while eliminating important limitations in their reach, utilization, and efficacy. Tessera Therapeutics was founded by Flagship Pioneering, a life sciences innovation enterprise that conceives, resources, and develops first-in-category bioplatform companies to transform human health and sustainability.

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Leading Gene Writing Company Tessera Therapeutics Announces Pivotal Expansion of Leadership Team - Business Wire

When she isnt pursuing her favorite heart-pumping activities of running, swimming, or cycling, Sharlene M. Day, a presidential associate professor of cardiovascular medicine and director of Translational Research for the Penn Cardiovascular Institute, is focused on the heart in another way; trying to unlock and treat the mysteries of genetic heart disease.

As part of her research at the Day Lab, Day integrates translational and clinical science to understand the full spectrum of genetic heart disease evolution and progression, from gene mutations in heart muscle cells to ways of predicting negative outcomes in patients. Clinically, she sees patients with hypertrophic cardiomyopathy, a condition where the heart muscle becomes thick making it harder for blood to leave the heart, and other genetic heart conditions at the Penn Center for Inherited Cardiac Disease, such as inherited arrhythmias, high blood cholesterol, Marfan syndrome and familial amyloidosis. Her research program primarily focuses on these same conditions.

A physician scientist, Day completed her residency, followed by a cardiology fellowship, and a postdoctoral research fellowship at the University of Michigan before joining the faculty there, and spent 24 years there before coming to Penn. Day was recruited to Penn Medicine to lead initiatives in translational research within the Cardiovascular Institute and to grow the clinical and academic mission in the Penn Center for Inherited Cardiovascular Disease.

Very early on in my training, I became fascinated with the interplay between genetics and cardiac physiology that manifest in very unique observable cardiac traits and complicated disease trajectories including both heart failure and arrhythmias, also known as irregular heartbeats, says Day.

This story is by Sophie Kluthe. Read more at Penn Medicine News.

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Getting to the heart of genetic cardiovascular diseases | Penn Today - Penn Today

Researchers at the University of California, Davis have discovered a new way to administer heart medicine for cats.

Hypertrophic cardiomyopathy, otherwise known as HCM, affects 1 in 7 cats. It leads to the thickening of the heart muscle and cats can form blood clots as the condition worsens, leading to extreme pain or even sudden death.

Cats are typically prescribed clopidogrel to prevent clots from forming. However, co-authors and veterinary cardiologists Josh Stern and Ron Li from UC Davis consistently saw at least 20% of cats continue to form blood clots despite being on the drug.

During their study, Stern and Li tested the ability of the cat to form clots, had their owners administer clopidogrel, then tested whether mutations in the cat genome affected the effectiveness of the medication.

Their results published in Nature's Scientific Reports showed how certain mutations affected the response of the cats to therapy.

The study is "one of the first times we've shown that medications prescribed for cardiac disease in cats may be impacted by a cat's own DNA," Stern said.

"This is a game changer," Li said. "I think this is a step for precision medicine."

Human medicine has utilized genetic testing. For example, someone could go to a drugstore and pick up a saliva testing kit. Li and Stern faced challenges because genetics and mutations within the cat genome are less understood.

"We hope that a genetic test becomes part of the standard of care of treating this really common and devastating disease in cats," Stern said.

There was also difficulty in recruiting viable patients for the clinic trials and more difficulty in understanding how the cats responded to the therapy. Cats "don't come in and tell you how how they're feeling on their drugs," Stern said. "We have to rely on their owners and use validated questionnaires.

"Both Dr. Li and I hope that this further opens the door to understanding the true benefit of personalized medicine in veterinary species."

Stern and Li look to offer this genetic test at the UC Davis laboratory in the near future.

___

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UC Davis researchers discover new way to test effectiveness of heart medicine for cats - Union Democrat

What happened

Companies associated with gene-editing are near the end of their second poor week in a row on Wall Street. For the week, shares of CRISPR Therapeutics (NASDAQ:CRSP) were down by 12% as of Thursday's market close. Editas Medicine (NASDAQ:EDIT) was off by about 14% over those four days, and Beam Therapeutics (NASDAQ:BEAM) had lost 15%.

Those downward moves came on the heels of a huge June run-up after Intellia Therapeutics (NASDAQ:NTLA) -- another gene-editing company -- announced that its approach had successfully reversed a genetic disease in human patients. In a clinical trial first, researchers injected a CRISPR treatment into patients that effectively inactivated the body's production of a mutated (and eventually toxic) form of a protein by altering the patients' DNA. Intellia and its partner Regeneron will now navigate the standard regulatory review process. Intellia CEO John Leonard has said he hopes the therapy becomes available to patients "very, very soon." However, marketability could still be years away. Meanwhile, Wall Street's recent surge of excitement about CRISPR therapies has worn off.

BEAM data by YCharts

The drops are notable as investors initially saw this breakthrough result as a positive for all gene-editing stocks. CRISPR Therapeutics, Editas, and Intellia are all taking similar approaches to editing genes -- using the CRISPR-Cas9 enzyme, which functions like a scissors. Beam Therapeutics, on the other hand, uses base-editing, an approach that alters DNA more like a pencil and eraser. Nearly three weeks removed from Intellia's announcement, the market has clearly decided its breakthrough is much more company-specific.

Image source: Getty Images.

It appears gene-editing investors who don't hold Intellia will have to wait for their own companies' catalysts to see big gains. Of these three, CRISPR Therapeutics is the one whose lead candidate is furthest along in clinical trials. CRISPR and its partner, Vertex Pharmaceuticals, have dosed more than 40 patients in a trial studying CTX001 in patients with sickle cell and beta-thalassemia. All patients at least three months removed from the procedure have shown a consistent and positive response to CTX001. Every previously transfusion-dependent patient in the trial has become transfusion-free since receiving the one-time treatment.

CTX001 is currently in a phase 1/2 study, and CRISPR Therapeutics hasn't offered any estimates about when it anticipates that it could be commercially available. But it recently signed an agreement with a smaller startup, Capsida Biotherapeutics, to develop an in vivo therapy for two diseases -- amyotrophic lateral sclerosis (ALS) and Friedreich's ataxia.

Editas has both in vivo and ex vivo (gene-editing done outside the body) candidates in early-stage clinical trials. Its in vivo candidate, EDIT-101, is a treatment for the most common form of childhood blindness. For this program, management has a meeting scheduled with the independent data monitoring committee this summer, and plans to share clinical data by the end of the year.

The company's also developing an ex vivo treatment for sickle cell disease that takes a slightly different approach than the one being used by other gene-editing companies. Editas is using the Cas12a enzyme instead of the more commonly used Cas9. The Cas12a approach has shown better editing efficiency in some studies and only requires one RNA molecule for editing as opposed to Cas9, which requires two.

For now, Beam Therapeutics is furthest back on the research and development path. Its programs are in preclinical stages. Its most advanced candidate also targets sickle cell disease and beta-thalassemia.

Investors' excitement about Beam has been less about its individual treatments and more about the gene-editing technology the company is using. Its base-editing approach could offer a more precise and predictable tool to modify DNA for treating diseases. The company hopes that will allow it to effectively leapfrog its rivals in the next few years. Management has predicted it will file with the FDA for an investigational new drug (IND) designation for its lead candidate later this year. Receiving that designation will give it the green light to test the treatment in humans trials. It also plans to move two more programs into the IND-enabling stage.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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Why CRISPR Therapeutics, Editas Medicine, and Beam Therapeutics Dropped This Week - The Motley Fool

Researchers at the German Cancer Consortium (DKTK), the Technical University of Munich (TUM), and the University Medical Center Gttingen have demonstrated that cells originating from different organs are differentially susceptible to activating mutations in cancer drivers. The findings show, for the first time, that tissue-specific genetic interactions are responsible for the differential susceptibility of the biliary and the pancreatic epithelium towards transformation by oncogenes.

The study has been published in Cancer Discovery 2021.

The research team hopes that these findings could lead to more precise therapeutic decision making in the future. To date, there has been no significant improvements in the treatment of pancreatic and biliary tract cancer in the last few decades and there are no effective targeted therapies.

Dieter Saur, DKTK Professor for Translational Cancer Research at TUMs university hospital Klinikum rechts der Isar, DKTK partner site Munich, said: The situation for patients with pancreatic and extrahepatic bile duct cancer is still very depressing, with approximately only 10% of patients surviving five years.

To discover novel therapeutic strategies that improve prognosis of these patients, it is essential to understand the fundamental genetic networks and interactions that drive these tumours in a tissue-specific fashion. This will allow highly precise molecular interventions in future.

The study examined the development of biliary tract and pancreatic cancer in mice, replacing the normal oncogenes, PIK3CA and KRAS, with a version containing a mutation identical with that in human cancers. Expression of these oncogenes in the common precursor cells of the extrahepatic bile duct and the pancreas led to very different outcomes. Mice with the mutated PI3K gene developed mostly biliary tract cancer, whereas mice with the mutated KRAS gene instead developed exclusively pancreatic cancer.

The findings came as a surprise to researchers, as both genes are mutated in both human cancer types. Further investigation discovered the fundamental genetic processes underlying the differential sensitivity of the different tissue types towards oncogenic transformation.

Chiara Falcomat, the first author of the new publication, said: Our results are an important step toward solving one of the biggest mysteries in oncology: Why do alterations of certain genes cause cancer only in specific organs?

Our studies in mice revealed how genes co-operate to cause cancer in different organs. We identified main players, the order in which they occur during tumour progression, and the molecular processes how they turn normal cells into threatening cancers. Such processes are potential targets for new treatments.

In the mice, the team uncovered a step-by-step process of genetic alterations driving the development of these cancer types. Some cooperating genetic events over activate the PI3K signalling pathway, making them cancerous. Others disrupt regulator proteins, inactivating their ability to suppress cancer progression.

Gnter Schneider, Professor for Translational Cancer Research at the University Medical Center Gttingen, said: Understanding the genetic interactions in different cancer types will guide more precise therapeutic decision making in the future.

Our ability to engineer specific genetic alterations in mice allows us to study the function of cancer genes and to model specific cancer subtypes. Such mouse models are also invaluable for testing anticancer drugs before using them in clinical trials.

Roland Rad, Professor at TUM and a DKTK researcher, said: What we showed is that the function of an oncogene is different depending on the tissue type and what other genes are altered.

These oncogenes need to hijack the intrinsic signalling network of a specific tissue to allow cancer development. Interestingly, such networks exist only in specific tissue types, making them susceptible for cancer development.

Researchers say that the findings are key to the development of future therapeutic interventions.

Professor Saur concluded: The concept that multiple tissue-specific genetic interactions drive cancer progression demonstrates that no single gene can predict responsiveness of a cancer to a particular therapy.

In future, it is key to mechanistically understand the tissue-specific determinants of therapeutic response and resistance to get precision medicine to the next level.

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Cancer treatment could be improved by new causal understanding - Health Europa

The University of Wisconsin School of Medicine and Public Health will be the first site to host a new national fellowship that aims to makethe doctor's office more supportive ofLGBTQ patients.

The school will receive $750,000 over four years from the American Medical Association Foundation to launch a training program for early-career primary care physicians to ensureLGBTQ people have access to a high standard of health care.

Research has shown that discrimination against LGBTQ people is associated with higher rates of depression, increased suicide risk and reduced access to preventive health caresuch as cancer screenings.

In the past year, 15% of LGBTQ Americans postponed needed medical care for fear of discriminationfrom their health care provider, according to an October 2020 study from the Center for American Progress, a progressive think tank based in Washington, D.C.

Many LGBTQ respondents have had other negative experiences with health care, the study found, including a provider being visibly uncomfortable with their sexual orientation (14% of respondents), harsh or abusive language (8%) or unwanted physical contact (7%).

The outlook is worse for transgender people a third of whom in the same study reported having to teach their provider about transgender people to receive appropriate care and LGBTQ people of color, who often experience intersecting discrimination.

These results track locally: A 2019 study using data from the Survey of the Health of Wisconsin found lesbian, gay and bisexual Wisconsinites were twice as likely as their heterosexual counterparts to delay obtaining health care, and transgender residents were nearly three times more likely to report poor quality of care and unfair treatment by the medical profession.

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UW-Madison's fellowship program aims to turn those outcomes around. And while it's first, the foundation'swebsite says it plans to support fellows at dozens of institutions over the next decade.

Dr. Elizabeth Petty, senior associate dean for academic affairs at the School of Medicine and Public Health, will serve as program director.

As a lesbian woman, Petty said she hashad some negative encounters with the health care system.

"I've had some things that were said that were offensive or humiliating, things that were wrong in terms of making assumptions about my sexual activity ... not offering the kind of care I knew I needed as a physician," she said.

She's also part of Facebook groups for LGBTQ people in Madison to share which doctors will provide affirming care and which to avoid. It upsets her that affirmingcare isn't a given.

The fellows who take part in this program are expected to help changethat landscape. Petty said they plan to recruit nationally for early-career primary care providers who have a track record of health equity work.

The first year of the program, which will kick off in July 2022, will serve as a pilot year, with the goal of adding three fellows per year as its reputation grows.

It will be housed within the school's Department of Family Medicine and Community Health, andfellows will do both clinical and classroom training in LGBTQ health topics and participate in research, teaching, mentoring and community engagement.

Research in particular will be critical to improving health outcomes for LGBTQ people, Petty said, because there's so much left to be explored: the unique needs in rural communities, across intersections of race and ethnicity, and across a person's lifespan, to name a few.

When fellowships conclude, doctors will have a variety of options at their fingertips, she said. They could stay on to do research or teach at UW, join a practice elsewhere in Wisconsin or even go on to be a "change agent" at the national level.

Petty said it's exciting to be the first school chosen for the fellowship program, but that it's even more exciting to picture a few years down the road, when theremight be a strong network of programs improving the health care experiencefor LGBTQ patients across the country.

In Wisconsin, she feels the work will tie directly to the Wisconsin Idea the notion that what's learned at the university should be applied to solve problems throughout the state.

"We can change the shape of health care for LGBTQ people," she said. "We're here to serve."

Contact reporter Madeline Heim at 920-996-7266 or mheim@gannett.com. Follow her on Twitter at @madeline_heim.

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LGBTQ patients face bias at the doctor's office. Here's how a first-of-its-kind fellowship at UW medical school aims to change that. - Appleton Post...