BRCA2

Helix reveals new research developments in a wide range of therapeutic areas at the American Society of Human Genetics 2024 Annual Meeting SAN MATEO, Calif., Oct. 30, 2024 /PRNewswire/ -- Helix, a leader in population genomics and precision health, will unveil new clinical research and deliver a range of platform talks that continue to underscore the power of genomic insights at the ASHG 2024 Annual Meeting from November 5-9, 2024, in Denver, Colorado. Presentations include the latest findings from Helix and collaborators, detailing new data on predictors of future risk for cardiovascular disease, genetic and metabolic factors associated with weight loss while on semaglutide, the impact of foregoing routine pharmacogenetic testing on major adverse events and more. With these insights, health system and life science researchers can conduct innovative studies in a wide range of therapeutic areas to drive drug discovery and development, improve pharmacogenomic testing, identify disease risk and more. "Our growing library of research continues to highlight the transformative potential of genomics in advancing the field of precision health," said William Lee, Ph.D., chief science officer at Helix. "By offering data-driven insights in an ever-growing array of use cases, we are paving the way for more personalized care and therapies that can significantly improve patient outcomes and revolutionize healthcare as we know it." Clinical findings and platform talks will be presented at the conference during the times listed below: Platform Talks Introducing an efficient framework to evaluate oncology and cardiology gene-disease validity leveraging clinicogenomic biobank data Thursday, November 7, 2024, from 10:45-11:00 a.m. MT in Room 405 Presented by Daniela Iacoboni, PhD, Genomics Counselor III Classification of rare nonsynonymous variants to identify individuals at low risk of disease: introducing variants of potential risk Thursday, November 7, 2024, from 11:30-11:45 a.m. MT in the Mile High Ballroom 2&3 Presented by Alexandre Bolze, PhD, Principal Scientist Weight loss with semaglutide is influenced by traditional metabolic risk factors and BMI-associated genetic variants Friday, November 8, 2024, from 11:30-11:45 a.m. MT in Room 501 Presented by Matthew Levy, PhD, Senior Research Scientist Comparing scalable and automated vs. ACMG/AMP variant interpretation strategies for BRCA1 and BRCA2 in a large clinicogenomic cohort from six US-based health systems Friday, November 8, 2024, from 1:45-2:00 p.m. MT in the Four Seasons Ballroom 4 Presented by Kelly Schiabor Barrett, PhD, Senior Staff Scientist Finding the pathogenic variant in the haystack: using breast-cancer-related family history from electronic health records to identify patients who should be prioritized for genetic testing Saturday, November 9, 2024 from 10:00-10:15 a.m. MT in Room 505 Presented by Daniel Kiser, MS University of Nevada Reno, School of Medicine Poster Presentations Retrospective study shows pharmacogenomic testing could reduce adverse events associated with clopidogrel use by 38% Wednesday, November 6, 2024, from 2:30-4:30 p.m. MT in the Poster Area (#7017W) Presented by Natalie Telis, PhD, Senior Research Scientist and Nicole Washington, PhD, Director, Product Management Predicting coronary artery disease using an exome-based estimate of KIV-2 repeat count Thursday, November 7, 2024, from 2:30-4:30 p.m. MT in the Poster Area (#5147T) Presented by Natalie Telis, PhD, Senior Research Scientist Discovery of rare coding variants with loss of function effect using a sliding window technique on clinicogenomic data Friday, November 8, 2024, from 2:30-4:30 p.m. MT in the Poster Area (#4041F) Presented by Liz Cirulli, PhD, Associate Director, Research Genetic study of Crohn's disease in the US population Friday, November 8, 2024, from 2:30-4:30 p.m. MT in the Poster Area (#5060F) Presented by Alexandre Bolze, PhD, Principal Scientist and Akwasi Asabere, PhD, Executive Advisor To join Helix at ASHG and learn more about the company's clinico-genomic programs empowering innovative precision therapies, please visit booth #970. About Helix: Helix is the leading population genomics and precision health organization. Helix enables health systems, life sciences companies and payers to accelerate the integration of genomic data into patient care and therapeutic development. Learn more at . Media Contact: [email protected] SOURCE Helix WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

REYKJAVIK, Iceland, Oct. 29, 2024 /PRNewswire/ --Scientists at deCODE genetics/Amgen, and their collaborators have discovered six novel genes with rare germline variants that associate with cancer risk. The findings are published today in Nature Genetics under the title "Gene-based burden tests of rare germline variants identify six cancer susceptibility genes". Continue Reading Kari Stefansson senior author of the paper, “Gene-based burden tests of rare germline variants identify six cancer susceptibility genes”, published today in Nature Genetics, discusses the paper with Erna V. Ivarsdottir first author on the paper. Kari Stefansson CEO of deCODE genetics and senior author on the paper in Nature Genetics, with Erna V. Ivarsdottir scientists at deCODE genetics and first author. A subset of cancers arises in individuals who are born with rare sequence variants that significantly alter their cancer risk. The discovery of such variants, like those in the BRCA1- and BRCA2 genes, has led to improved early cancer detection and the development of targeted therapies, ultimately reducing the cancer burden and improving prognosis of those carrying these mutations. In this study, the scientists analysed three large genetic datasets from individuals of European descent, including 130,991 cancer patients and 733,486 controls. Through a gene-based burden association analysis across 22 different cancer types, they found four novel genes associated with a risk of developing cancer; the pro-apoptotic BIK for prostate cancer, the autophagy involved ATG12 for colorectal cancer, TG for thyroid cancer, and CMTR2 for both lung cancer and cutaneous melanoma. The relative increase in cancer risk conferred by these variants was substantial (90-295%), but it should be noted that the design of the study does not allow accurate assessment of absolute lifetime cancer risk. Additionally, the researchers found the first genes with rare variants that are associated with a decreased risk of cancer. Specifically, loss of AURKB was found to protect against any cancer type, and loss of PPP1R15A was associated with 53% lower risk of breast cancer. This suggests that inhibition of PPP1R15A may be a therapeutic option for breast cancer. The study revealed new insight into the biological mechanisms involved in cancer predisposition that will hopefully lead to better screening and treatment strategies. Video - Photo - SOURCE deCODE genetics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

NEW YORK, Oct. 11, 2024 /PRNewswire/ -- Shridar Ganesan, MD, PhD, a physician–scientist with a background in cancer biology and DNA repair, has been named director of the new Center for Molecular Oncology at NYU Langone Health's Perlmutter Cancer Center. Continue Reading Shridar Ganesan, MD, PhD The Center for Molecular Oncology will assess people diagnosed with cancer with the most advanced molecular diagnostics available and match them with the most effective therapies. Dr. Ganesan will be building up and leading the center by collaborating with molecular pathologists, clinician researchers, and others across the institution to integrate the analysis of genomic sequencing and other molecular assays to develop personalized care plans. A medical oncologist with a focus on breast cancer and rare cancers, Dr. Ganesan brings extensive knowledge of treating patients in addition to his administrative duties. He comes to NYU Langone from Rutgers Cancer Institute of New Jersey, where he served as the chief of molecular oncology and associate director for translational research. Dr. Ganesan's research includes investigating genetic instability and epigenetic instability, which is a characteristic of most cancer cells, with a focus on the biology of the genes that suppress tumors caused by breast cancer genes BRCA1 and BRCA2. His laboratory also has expertise in translational cancer genomics and the biology of rare cancers, with a focus on identifying new cancer genes and understanding the mechanisms of response and resistance to targeted therapy and immunotherapy. Molecular Oncology Molecular oncology is an interdisciplinary specialty that focuses on the cancer biology and the genomic alterations that underlie most solid tumors and blood cancers. Researchers and clinicians use liquid biopsy to identify the genes and mutations involved in the development of individual cancers quickly and accurately. The Center for Molecular Oncology will manage an institution-wide care model in which all patients diagnosed with cancer will receive up-front molecular analysis of their cancer, followed by serial liquid biopsies—sequencing for tumor DNA in the blood—as needed. This approach offers rapid diagnostic capabilities and can provide a detailed picture of each patient's individual cancer and how it may evolve over time during treatment. Ultimately, this will drive development of new and more effective treatment approaches. "The aim of this center is to bring the advances that are happening in molecular analysis of cancers and the application of targeted therapies to every patient diagnosed with cancer at any of our locations," says Dr. Ganesan. "We want to use that to inform our standard approach to treatment across our entire network. This will help us treat individuals better and help us classify and organize diseases to advance our understanding of cancer in general and develop novel treatments." Armed with this knowledge, care teams can more accurately assign patients to individualized clinical trials and therapies, avoid over- or undertreating, and potentially minimize side effects. Right now, genomic analyses and liquid biopsies are used for patients already diagnosed with cancer, but in the future, it may be used for early detection, revealing cancer far earlier than traditional methods. "At Perlmutter Cancer Center, we are uniquely positioned to build this program on a large scale, given our integrated system," says Alec Kimmelman, MD, PhD, the Anita Steckler and Joseph Steckler Professor and Chair of Radiation Oncology, and the director of Perlmutter Cancer Center. "With Dr. Ganesan and the team, we are going to set the new standard of care and ensure all of our patients have access to it wherever they live." About Dr. Ganesan Dr. Ganesan received his MD and PhD in cell biology at Yale University before going on to complete his postgraduate training at Brigham and Women's Hospital and Dana-Farber Cancer Institute. He later held academic titles at several institutions, including Harvard Medical School and Robert Wood Johnson Medical School. At Rutgers, he held multiple leadership positions, including the Omar Boraie Chair in Genomic Science, associate director of translational science, chief of the section of molecular oncology, and co-leader of the Clinical Investigations and Precision Therapeutics Program. His extensive experience in basic, translational, and clinical research has resulted in more than 140 peer-reviewed papers in high-impact journals, including Nature, Cell, Cancer Discovery, JCI, and JCO Precision Oncology. He also has dedicated his time to mentoring graduate students, residents, and postdoctoral research fellows, serving the future of the medical community. He developed, organized, and now runs a molecular tumor board, which is a hub for clinical, research, and educational activities. Media Contact Ryan Dziuba Media Relations Manager Phone: 212-404-4131 [email protected] SOURCE NYU Langone Health WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED