Category Archives: Genetic medicine

People who work night shifts are at increased risk of developing an irregular and often abnormally fast heart rhythm called atrial fibrillation (AF), according to a new study led by a team of international researchers.

The findings were published in the European Heart Journal.

The study is the first to investigate the links between night shift work and AF. Using information from 283,657 people in the UK Biobank database, researchers found that the longer and more frequently people worked night shifts over their lifetimes, the greater their risk of AF. Night shift work was also linked to an increased risk of heart disease, but not to stroke or heart failure.

In addition, the researchers, led by Professor Yingli Lu, of Shanghai Ninth People's Hospital and Shanghai JiaoTong University School of Medicine, Shanghai, China, and Professor Lu Qi, of Tulane University School of Public Health and Tropical Medicine, New Orleans, USA, investigated whether genetic predisposition to AF could play a role in the increased risk.

They evaluated the overall genetic risk on the basis of 166 genetic variations known to be associated with the condition but found that the genetic risk levels did not affect the link between working night shifts and AF risk, regardless of whether participants had a low, medium, or high genetic risk.

Prof. Lu said: "Although a study like this cannot show a causal link between night shifts and atrial fibrillation and heart disease, our results suggest that current and lifetime night shift work may increase the risk of these conditions.

"Our findings have public health implications for preventing atrial fibrillation. They suggest that reducing both the frequency and the duration of night shift work may be beneficial for the health of the heart and blood vessels."

The study included 286,353 people who were in paid employment or self-employed. A total of 283,657 of these participants did not have AF when they enrolled in UK Biobank, and 276,009 did not have heart failure or stroke.

Information on genetic variants was available for 193,819 participants without AF, and 75,391 of them answered in-depth questions about their lifetime employment in a questionnaire sent out in 2015. Among the participants free of heart disease and stroke when they joined the study, 73,986 provided information on their employment history. During an average follow-up time of over ten years, there were 5,777 AF cases.

The researchers adjusted their analyses for factors that could affect the results, such as age, sex, ethnicity, education, socioeconomic status, smoking, physical exercise, diet, body mass index, blood pressure, sleep duration and chronotype (whether someone was a 'morning' or an 'evening' person).

They found that people who currently worked night shifts on a usual or permanent basis had a 12 per cent increased risk of AF compared to people who only worked during the day. The risk increased to 18 per cent after ten or more years for those who had a lifetime duration of night shifts. Among people who worked an average of three to eight-night shifts a month for ten years or more, the risk of AF increased to 22 per cent compared to daytime workers.

Among participants currently working night shifts, or working night shifts for ten or more years, or working a lifetime of three to eight night shifts a month, the risk of coronary heart disease increased by 22 per cent, 37 per cent and 35 per cent respectively compared to daytime workers.

Prof. Qi said: "There were two more interesting findings. We found that women were more susceptible to atrial fibrillation than men when working night shifts for more than ten years. Their risk increased significantly by 64% compared to day workers. People reporting an ideal amount of physical activity of 150 minutes a week or more of moderate-intensity, 75 minutes a week or more of vigorous-intensity, or an equivalent combination, had a lower risk of atrial fibrillation than those with non-ideal physical activity when exposed to a lifetime of night shift work. Thus, women and less physically active people may benefit particularly from a reduction in night shift work."

A strength of the study is its size, with detailed information on over 283,000 people. In addition, it is the first study to link these data with genetic information in a population that also has detailed histories available on current shift work and lifetime employment.

Limitations of the study include the fact that it cannot show shift work causes heart problems, only that it is associated with them; some cases of atrial fibrillation may have been missed; lifetime employment was assessed only when people joined UK Biobank, was self-reported, and, therefore, may have changed or been prone to some errors; there may be unknown factors that might affect the results, and the people in UK Biobank were mainly white British and so it may not be possible to generalise the findings to other ethnic groups.

Prof. Lu said: "We plan to analyse the association between night shift work and atrial fibrillation in different groups of people. This may strengthen the reliability of these results and serve as a warning to groups working in certain types of occupations to get their hearts checked early if they feel any pain or discomfort in their chests."

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People working night shift face increased risk of developing heart problems: Study - Hindustan Times

PHILADELPHIA, Aug. 17, 2021 /PRNewswire/ -- Coriell Life Sciences, an international leader in precision medicine, announced today its debuton the annual Inc. 5000 list, the most prestigious ranking of the nation's fastest-growing private companies. The list represents a unique look at the most successful companies within the American economy's most dynamic segment.

Our scalability enables us to deliver turnkey precision medicine solutions to people and organizations around the world.

"Having Coriell Life Sciences' growth story recognized is a tremendous honor for our entire team," says Scott Megill, President & CEO of Coriell Life Sciences. "The most important part of this story goes beyond our traction in rolling out personalized medication safety programs to help a growing number of employers and payers improve population health and lower healthcare costs. It's also about the scalability that we're introducing to the market. This scalability enables us to deliver turnkey precision medicine solutions to organizations and individuals around the globe and empower a healthier world."

Precision medicine is at a tipping point, especially as more employers and health plans offer personalized medication safety benefits to their employees, retirees, and members. CLS' Corigen Medication Safety Program is the most comprehensive medication risk management program on the market. It uses the science of pharmacogenomics (PGx) to identify which medications are the safest and most effective for individuals based on their unique DNA. In addition to minimizing adverse effects and improving individual health, it reduces healthcare costs for sponsoring organizations by minimizing the inefficiencies of trial-and-error prescribing.

"The 2021 Inc. 5000 list feels like one of the most important rosters of companies ever compiled," says Scott Omelianuk, editor-in-chief of Inc. "Building one of the fastest-growing companies in America in any year is a remarkable achievement. Building one in the crisis we've lived through is just plain amazing. This kind of accomplishment comes with hard work, smart pivots, great leadership, and the help of a whole lot of people."

To learn more, visit coriell.com.

About Coriell Life Sciences

Coriell Life Sciences (CLS), a leader in genetic science,is spearheading innovation in precision medicine to reduce healthcare costs and empower a healthier world.With advanced bioinformatics technology, CLS bridges the gap between genetic knowledge and clinical application and offers the most comprehensive medication risk management program on the market.Visit coriell.com, email info@coriell.comor follow @CoriellLife.

Media Contact:

Pamela Caruolo

For Coriell Life Sciences

pamela@caruolocommunications.com

484.574.2946

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Coriell Life Sciences Makes its Debut on the Inc. 5000 as One of America's Fastest-Growing Private Companies - The Wellsboro Gazette

CAMBRIDGE, Mass., Aug. 11, 2021 (GLOBE NEWSWIRE) -- Generation Bio Co. (Nasdaq: GBIO), a biotechnology company innovating genetic medicines for people living with rare and prevalent diseases, reported recent business highlights and second quarter 2021 financial results.

This quarter we announced our shift to rapid enzymatic synthesis, or RES, for production of our closed-ended DNA, ceDNA, constructs and our signing of a lease to establish significant internal current Good Manufacturing Practice, or cGMP, manufacturing capacity. These are important steps toward our goal of extending the reach of our durable, redosable genetic medicines to patients with prevalent diseases, said Geoff McDonough, M.D., chief executive officer of Generation Bio. We will continue to advance the platform throughout the rest of the year and expect factor VIII expression data with ceDNA produced using RES in non-human primatesfor our hemophilia A program by year-end.

Business Highlights

Second Quarter 2021 Financial Results

About Generation Bio

Generation Bio is innovating genetic medicines to provide durable, redosable treatments for people living with rare and prevalent diseases. The companys non-viral genetic medicine platform incorporates a novel DNA construct called closed-ended DNA, or ceDNA; a unique cell-targeted lipid nanoparticle delivery system, or ctLNP; and a highly scalable capsid-free manufacturing process that uses proprietary cell-free rapid enzymatic synthesis, or RES, to produce ceDNA. The platform is designed to enable multi-year durability from a single dose, to deliver large genetic payloads, including multiple genes, to specific tissues, and to allow titration and redosing to adjust or extend expression levels in each patient. RES has the potential to expand Generation Bios manufacturing scale to hundreds of millions of doses to support its mission to extend the reach of genetic medicine to more people, living with more diseases, around the world.

For more information, please visit http://www.generationbio.com.

Forward-Looking Statements

Any statements in this press release about future expectations, plans and prospects for the company, including statements about our strategic plans or objectives, our technology platform, our research and clinical development plans, the expected timing of the submission of IND applications and preclinical data, our manufacturing plans, our expectations regarding our new facility and other statements containing the words believes, anticipates, plans, expects, and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: uncertainties inherent in the identification and development of product candidates, including the conduct of research activities, the initiation and completion of preclinical studies and clinical trials and clinical development of the companys product candidates; uncertainties as to the availability and timing of results from preclinical studies and clinical trials; whether results from preclinical studies will be predictive of the results of later preclinical studies and clinical trials; uncertainties regarding the timing and ability to complete the build-out of the companys manufacturing facility and regarding the new manufacturing process; expectations regarding the timing of submission of IND applications; expectations for regulatory approvals to conduct trials or to market products; challenges in the manufacture of genetic medicine products; whether the companys cash resources are sufficient to fund the companys operating expenses and capital expenditure requirements for the period anticipated; the impact of the COVID-19 pandemic on the companys business and operations; as well as the other risks and uncertainties set forth in the Risk Factors section of our most recent annual report on Form 10-K and quarterly report on Form 10-Q, which are on file with the Securities and Exchange Commission, and in subsequent filings the company may make with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the companys views as of the date hereof. The company anticipates that subsequent events and developments will cause the companys views to change.However, while the company may elect to update these forward-looking statements at some point in the future, the company specifically disclaims any obligation to do so.These forward-looking statements should not be relied upon as representing the companys views as of any date subsequent to the date on which they were made.

Contacts:

InvestorsMaren KillackeyGeneration Bio541-646-2420mkillackey@generationbio.com

MediaAlicia WebbGeneration Bio847-254-4275awebb@generationbio.com

Lisa RaffenspergerTen Bridge Communications617-903-8783lisa@tenbridgecommunications.com

GENERATION BIO CO.CONSOLIDATED BALANCE SHEET DATA (Unaudited)(In thousands)

GENERATION BIO CO.CONSOLIDATED STATEMENTS OF OPERATIONS AND COMPREHENSIVE LOSS (Unaudited)

(in thousands, except share and per share data)

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Generation Bio Reports Business Highlights and Second Quarter 2021 Financial Results - GlobeNewswire

Recent changes to patient right of access policies could open the door to increased privacy challenges.

Twenty-five years in, the Health Insurance Portability and Accountability Act (HIPAA) and its related privacy and security regulations have been both celebrated and criticized. Recent developments are transforming patient right of access into a gateway for third parties. Where this transformation ultimately leads is uncertain.

One possibility is a learning health system, fueled by patient contributed data and sophisticated data science and governed with an eye to advancing population health and equity while protecting privacy and maintaining trust. Another possibility is health related corporate surveillance on steroids.

The 1973 report, Records, Computers and the Rights of Citizens, credited with originating the term fair information practice, included an access right, which made data about individuals fully available to them, upon request, in a comprehensible form. Section 164.524 of the 2000 HIPAA Privacy Rule gave patients a right to inspect and obtain a copy of their information, with only a few exceptions. The Health Information Technology for Economic and Clinical Health (HITECH) Act updated the access right for the era of electronic health records (EHRs).

Rights on the books and in practice are, of course, two different things.

Problems soon surfaced when patients tried to exercise their access right. For example, the American Civil Liberties Union filed a complaint on behalf of patients seeking their full genetic records from Myriad Genetics. Subsequently, Congress enacted the 21st Century Cures Act, which mandated a Government Accountability Office report on barriers to access. In addition, the U.S. Department of Health and Human Services Office for Civil Rights launched a HIPAA Right of Access Initiative. Ciitizen, a consumer health technology company, published a scorecard that suggests compliance with the HIPAA right of access is finally improving.

Announced earlier this year, a proposed modification to the HIPAA Privacy Rule added the right to direct the transmission of certain protected health information in an electronic format to a third party, which provides that an individual has a right of access to direct a covered health care provider to transmit an electronic copy of protected health information in an electronic health record directly to another person designated by the individual. The individuals request would need to be clear, conspicuous, and specific. There is, however, no point-by-point specification of required elements for the request, as would be the case with an authorization.

Although examples of possible recipients are provided in the proposed modification, there are no limits on who can be a third-party recipient, and the access right redirect extends to any person or entity the individual chooses. There is request for comment about whether health care providers should be required to inform patients about the privacy and security risks of transmitting information to entities that are not covered by HIPAA.

Efforts to develop a pathway for patients to share data with researchers have also been supercharged by the Precision Medicine Initiatives (PMI) All of Us research program, which aims to enroll over one million Americans. Diversity is a priority, and so is bringing together many different types of data, including EHR data.

The technology to transmit EHR data to All of Us, and potentially to other research studies, is being developed through a publicprivate partnership known as Sync for Science (S4S). A pilot involving four EHR vendors resulted in a successful launch of connectivity at six provider sites. Given the challenges, widespread adoption may take time, but this effort is proof of principle for patient EHR sharing with researchers through application programming interfaces (APIs).

An important part of the story, in addition to technical feasibility, is the ethical and policy framework for implementation. In 2017, the Office of the National Coordinator for Health Information Technology published a report on privacy and security considerations for health care APIs. Linked to S4S, it cites the Precision Medicine Initiative Privacy and Trust Principles and Data Security Policy Principles and Framework as important guides.

The report advises that, in accordance with the principle of transparency, individuals approving data transfers should be warned that the health care providers responsibility stops once data are transmitted to the third party. As a tip for implementers, it suggests that EHR patient portals give patients a way to view and manage all third-party apps that have access to information about them, including revoking HIPAA access requests.

Interestingly, the PMI Privacy and Trust Principles begin with governance, and the first principle under governance is substantive participant representation at all levels of program oversight, design, implementation, and evaluation. The All of Us Research Program has invested in an ambassador program that integrates participant representatives in governance in line with this principle. Justifications for the All of Us ambassador program include respect for persons, relationship to trust, and the recognition that more ethical weight has been placed on transparency and individual consent than they can bear.

Combining a vision of patient driven research progress with commitments to diversity, equity, and inclusion and trust enhancing privacy, security, and governance principles is the promised land for advocates of HIPAA access right facilitated data sharing.

But perhaps the HIPAA access right facilitated data sharing could just as easily lead elsewhere. If usual patterns hold, at least initially, patient-driven data sharing may exacerbate the diversity problem affecting genomic and other research databases. Early adopters will likely come from the most privileged tier of society. This is especially true in the United States, where inequality is increasing and many less privileged groups have limited access to technology and experience social and economic insecurity that makes them justifiably averse to privacy risks.

Furthermore, critics have already raised the alarm about the flow of de-identified information permitted under HIPAA. The addition of a process that may be easy to manipulate to gain relatively unrestricted access to identifiable patient information, including sensitive genomic data, may take data privacy from leaky to hemorrhaging.

In response, the CARIN Alliance developed a voluntary code that incorporates many important protections. Unfortunately, the history of technology companies such as Facebook does not foster faith in the power of wisdom and benevolence to mitigate a move fast and break things mindset.

Tips and codes are great, but the health care sector also needs requirements. For example, an easy-to-find and easy-to-navigate dashboard within patient portals should be a must have rather than a nice to have feature for access requests directing EHR data to third parties.

In addition, the individual is no match for entities that skillfully manage attention and manipulate choices that would be contrary to their interests. Laws and regulations that reach beyond HIPAA should impose data use limitations in line with reasonable expectations, spur more robust and inclusive governance structures, and provide better protection from downstream harms such as discrimination.

Mary Anderlik Majumder is a professor with the Center for Medical Ethics and Health Policy at the Baylor College of Medicine.

This essay is part of a six-part series, entitledReflecting on 25 Years of HIPAA.

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The HIPAA Right of Access and Data Sharing - The Regulatory Review

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