University of Washington

STAMFORD, Conn.--( BUSINESS WIRE )--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced the results of an extensive study shedding light on the critical issue of racial disparities in access to an accurate genetic diagnosis. The study, a collaboration among GeneDx, The University of Washington, Brotman Baty Institute for Precision Medicine, Geisinger and Seattle Children’s Hospital, was conducted on nearly 187,000 samples performed and across approximately 73,000 patients who received exome testing with GeneDx. Findings uncover the diagnostic yield of exome sequencing for making an accurate and precise genetic diagnosis in children with rare diseases does not vary significantly between non-white and non-Hispanic white patients. Data from the study reveals that 46% of patients evaluated were non-white and within this group, the diagnostic rate for GeneDx’s exome testing when both parents were also tested remained consistently high at 27.1% compared to 27.4% for non-Hispanic white patients. These findings demonstrate disparities in precise genetic diagnosis are not due to diagnostic yields, but rather larger systemic structural barriers which may include complex workflows, costs, clinician shortages, unconscious biases and more. “Our findings show that when people are tested, diagnostic rates among populations are comparable,” said Mike Bamshad, MD, FACMG, Professor of Pediatrics at the University of Washington and Seattle Children’s Hospital. “Nevertheless, considerable disparities in access to testing remain. We, and our collaborators at GeneDx, are testing a variety of novel ways to simplify clinical workflows, increase provider readiness, and ultimately reduce barriers to genetic testing.” “The growing utilization of GeneDx’s exome and genome testing enriches our unparalleled diverse dataset and creates a flywheel effect. With every test we complete, we deepen our understanding of disease-gene connections to inform more definitive diagnoses regardless of ancestral background. These are critical findings to ensure health equity within genomics,” said Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “With similar diagnostic yields, the life-changing actionability of an accurate genetic diagnosis should be accessible to all and GeneDx is committed to breaking down systemic barriers and advocating for equitable access.” The study was constructed using GeneDx’s industry leading diverse dataset of more than 700,000 clinical exome and genomes. The data was presented this week at the American Society of Human Genetics (ASHG) annual meeting. GeneDx leverages its database as a critical tool to drive transformational care for pediatric patients and as the industry continues to look for strong evidence to expand the utilization and clinical utility of genome sequencing. About GeneDx : GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com and connect with us on LinkedIn , Facebook , and Instagram .

SAN DIEGO--( BUSINESS WIRE )--In an exciting moment for genomics research, Scale Biosciences (Scale Bio) announced today the winning projects of the 100 Million Cell Challenge representing more than a dozen projects addressing critical challenges in global health — from childhood respiratory diseases to cancer disparities. These projects, chosen from 147 proposals submitted across 27 countries, represent a total of 50 million cells and will be fully subsidized by the Chan Zuckerberg Initiative (CZI). The selected projects span a remarkable range of applications, from expanding the first global atlas of pediatric health to investigating population-specific differences in cancer outcomes. Collectively, they demonstrate how increased scale in single cell analysis can transform our understanding of human biology and disease. The overwhelming response from the scientific community—with submitted projects totaling nearly one billion cells—demonstrates the tremendous demand for accessible, large-scale single cell analysis. In recognition of this unprecedented interest and the high quality of submissions, Scale Bio will expand the program to enable support for all eligible researchers, representing more than 600 million cells of submitted projects. The 100 Million Cell Challenge reflected unprecedented industry collaboration between Scale Bio, CZI, Ultima Genomics, NVIDIA and BioTuring, a new partner. To support this ambitious initiative, BioTuring will offer all participating researchers complimentary access to their advanced analysis platform, BBrowserX, empowering the researchers with cutting-edge tools and accelerating their path to scientific insights. "The overwhelming success of this program in attracting a diverse array of projects totaling nearly a billion cells is a testament to the pent-up demand for single cell omics solutions, and the opportunity to unlock new insights when technical and cost barriers are removed," said Giovanna Prout, President and CEO of Scale Bio. "When researchers can analyze millions of cells instead of thousands, we unlock entirely new possibilities for understanding human health and disease. With Scale Bio’s innovative QuantumScale workflow and ScalePlex multiplexing technology, we are enabling many more researchers to tackle single cell omics research projects at unprecedented scale.” The 100 Million Cell Challenge is possible due to Scale Bio’s dual innovations: QuantumScale, a single cell RNA sequencing technology, and ScalePlex, a novel multiplexing technology that enables seamless sample pooling. Together, these technologies enable researchers to multiplex samples and prepare up to 2 million cells in parallel at a breakthrough price point of 1 cent per cell. The purpose-built innovations are designed for simplicity, flexibility and quality, with a clear multiplexing and single cell protocol that can be done with standard laboratory equipment and limited technician training. "The scale of these single cell omics projects will enhance Chan Zuckerberg CELL by GENE Discover – a platform CZI built where scientists can explore curated cellular data and discover new information – making it an even more powerful resource for the global research community," said Jonah Cool, Cell Science Senior Program Officer at CZI. "Each cell analyzed brings us closer to understanding diverse populations, complex diseases and how to develop more effective treatments." Data from the winning projects will be made openly available on CZ CELLxGENE Discover and will accelerate modeling efforts including CZI’s commitment to build AI-powered virtual cell models , capable of predicting the behavior of healthy and diseased cells. "It's inspiring to see the science that can be enabled by pushing the scale of single cell studies to many millions of cells," said Gilad Almogy, CEO of Ultima Genomics. "We are excited to continue to support the 100 Million Cell Challenge as it expands to enable even more researchers across the globe." "The ability to extract information for projects of this size requires computational resources that scale efficiently," noted George Vacek, Global Head of Genomics Alliances at NVIDIA. "Analysis at scale powered by NVIDIA technology will help transform this incredible data into actionable scientific insights." Winning projects were selected to reflect four key priorities in biomedical research: Global Health Equity: Studies spanning multiple continents and diverse populations across age and ancestry Disease Characterization: Looking at many patients and tissues temporally to fully understand disease-specific mechanisms Cancer Biology: New approaches to understanding treatment responses Therapeutic Innovation: Novel platforms for disease perturbations and drug development The projects selected for full subsidy include: Federico Gaiti, University Health Network, Elucidating molecular dependencies of glioblastoma cells engaged in neuronal crosstalk Caleb Webber, UK Dementia Research Institute, Zebrafish whole brain disease modeling Sophia George, University of Miami, African Caribbean Single Cell Network Kevin Matthew Byrd, Virginia Commonwealth University, Mapping the pediatric inhalation interface at single cell resolution David van Heel, Genes & Health / Queen Mary University of London, Genes & Health, multiomics Tom Taghon, Department of Diagnostic Sciences, Faculty of Medicine and Health Sciences, Ghent University, Molecular drivers of human T cell development Drew Neavin, Garvan Institute of Medical Research, Identifying patients at risk of drug-induced cardiotoxicity Luis Barreiro, University of Chicago, Unveiling immune variation across diverse human populations Barbara Treutlein, ETH Zurich, Predictive modeling of cell state-specific responses to small molecule perturbations in human organoids Zack Lewis, Allen Institute for Brain Science, Sympathetic nervous system atlas John Tsang, Yale University/Chan Zuckerberg Biohub New York, Deciphering the immune health of global populations Constantine Tzouanas, MIT, Protein platform perturbing human PBMCs with transcriptomic readout Christine Disteche, University of Washington, Single cell transcriptome analyses of sex differences in normal human development and in genetic conditions with an abnormal number of sex chromosomes April Foster, Wellcome Sanger Institute, Signalling perturbations to understand human development Project details and updates will be available at scale.bio/100MillionCells . About Scale Biosciences At Scale Bio, we are committed to accelerating scientific breakthroughs by providing innovative single cell omics solutions that redefine accessibility, flexibility, and scalability, empowering researchers to unlock the full potential of single cell omics. Leveraging our core massively parallelized single cell barcoding technology, we offer a range of advanced workflow solutions that maximize insights delivered with every experiment and sample type, allowing scientists to generate more data, analyze more samples, and explore more omics, cost efficiently and with unprecedented ease. Founded by scientists and technologists with experience across a range of multiomics disciplines, Scale Bio has attracted financing from leading life sciences tools investors including ARCH Venture Partners, BNG01, and Tao Capital. Scale Bio is headquartered in San Diego, Calif. Visit scale.bio to learn more. About Ultima Genomics Ultima Genomics is unleashing the power of genomics at scale. The Company's mission is to continuously drive the scale of genomic information to enable unprecedented advances in biology and improvements in human health. With humanity on the cusp of a biological revolution, there is a virtually endless need for more genomic information to address biology's complexity and dynamic change—and a further need to challenge conventional next-generation sequencing technologies. Ultima's revolutionary new sequencing architecture drives down the costs of sequencing to help overcome the tradeoffs that scientists and clinicians are forced to make between the breadth, depth and frequency with which they use genomic information. The new sequencing architecture was designed to scale far beyond conventional sequencing technologies, lower the cost of genomic information and catalyze the next phase of genomics in the 21st century. To learn more, visit www.ultimagenomics.com/ About the Chan Zuckerberg Initiative The Chan Zuckerberg Initiative was founded in 2015 to help solve some of society’s toughest challenges — from eradicating disease and improving education, to addressing the needs of our local communities. Our mission is to build a more inclusive, just, and healthy future for everyone. For more information, please visit chanzuckerberg.com . About BioTuring BioTuring’s cloud-based platform enables rapid, large - scale single cell analysis, empowering researchers to seamlessly upload, visualize, analyze, and share complex datasets in real time. With advanced tools like BBrowserX, BioTuring offers intuitive tools to support analysis of million-cell datasets, allowing researchers to extract deeper insights from their data and accelerate breakthroughs in biology. This powerful platform provides comprehensive insights across diverse sample types, supporting innovation in life sciences- no coding experience required.

BIEL/BIENNE, Switzerland, Nov. 6, 2024 /PRNewswire/ -- PharmaSens, a developer of innovative insulin patch pumps for people with diabetes, has announced the appointment of Robert A. Gabbay, MD, PhD, FACP and James L. Peterson to its board of directors. The Swiss company is developing a unique insulin delivery platform and is working to bring to patients the first all-in-one wearable patch device integrating both insulin delivery and continuous glucose sensing. "Welcoming Dr. Bob Gabbay and James Peterson to our board is a great honor and represents a significant milestone for PharmaSens as the company delves more deeply into the clinical research phase and looks to develop internationally," said Jean Patricot, chairman of the PharmaSens board. "Their expertise will strengthen our efforts to simplify diabetes management and expand access to insulin pump therapy for more people with diabetes." Recognized internationally in the diabetes community for his 40 years of experience in patient care, research, and leadership, Dr. Gabbay comes to the board having recently stepped down as chief scientific and medical officer of the American Diabetes Association, where he led ADA's efforts to drive discovery within the world of diabetes research, care and prevention. During his tenure there, Dr. Gabbay collaborated with government agencies on strategy and funding priorities, guided industry experts and stakeholders within FDA on clinical issues and trial designs, and established partnerships with global pharmaceutical and device companies to drive better patient care. For more than ten years, Dr. Gabbay has served as associate professor of medicine at Harvard Medical School and has cared for patients as an endocrinologist at the renowned Joslin Diabetes Center, where for his first seven years, he served as the organization's chief medical officer. Prior to Harvard and Joslin, Dr. Gabbay was professor of medicine in the college of medicine at Penn State. Dr. Gabbay brings a wealth of research and peer-reviewed publication experience to PharmaSens at a time when the organization is undertaking extensive clinical study of its technology. The focus of his research has been improving health care delivery models to enhance diabetes outcomes and the patient experience. He also brings extensive industry experience to the PharmaSens board, having served as a clinical advisor to several health tech and digital health companies, including Sweetch, Vida Health, Lark Health, Valendo Health, Onduo, HealthReveal, and Form Health. Peterson comes to the PharmaSens board with extensive executive leadership experience in company growth, mergers and acquisitions, corporate fundraising, venture building, and the development of new businesses and technology. After a 23-year career at the global healthcare company Haemonetics, from which he retired as president and CEO, Peterson served as executive in residence at the private equity firm Warburg Pincus, where he invested in diabetes technologies. Subsequently, he founded and served as executive chairman of two separate insulin delivery companies, Asante Solutions and CeQur Corporation. In addition to his entrepreneurial roles, Peterson was on the Finance Committee of the American Diabetes Association and was a long serving member of the board of directors of the Joslin Diabetes Center, where he remains as a member of the clinical assessment committee. "As we move into the next stage of our company's development, we look forward to working with Bob and James on our board and to the guidance they will provide based on their depth and breadth of clinical and entrepreneurial experience," said PharmaSens CEO Marcel Both. Dr. Gabbay earned his medical degree from the State University of New York at Brooklyn School of Medicine, a PhD in biochemistry from the University of Wisconsin, and a BS in biochemistry from McGill University. He is board certified in internal medicine and in endocrinology, diabetes, and metabolism. Peterson earned his MBA from Stanford University's Graduate School of Business and a BS in bioengineering from the University of Washington. About PharmaSens PharmaSens AG, a privately owned Swiss company, is dedicated to simplifying diabetes management, and broadening the reach of insulin pump therapy. The PharmaSens team has a wealth of experience in diabetes care and medtech device engineering, having contributed to the development of multiple insulin pump generations. Over several years of research and development, PharmaSens has built a patented international portfolio of distinctive and innovative products. For more information, please visit PharmaSens.com. Media Contact: In the U.S. Jeff Christensen, SignalWest Public Relations [email protected] Mobile: +1 (831) 566-0275 In Europe Marcel Both, CEO, PharmaSens [email protected] SOURCE PharmaSens WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED