BRCA1

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

Enables ATX-559 Phase 1 study in solid tumor patients with a focus on BRCA1/2-deficient breast cancer and solid tumors with microsatellite instability (MSI-H) and/or deficient mismatch repair (dMMR); first patient dosed anticipated in Q4 2024 Second program targeting KIF18A on track to enter clinical trials in early 2025, underscoring rapid advancement of novel therapies Clinical Advisory Board (CAB) of global oncology drug development experts formed to support the advancement of Accent's clinical pipeline LEXINGTON, Mass., Oct. 24, 2024 /PRNewswire/ -- Accent Therapeutics, a biopharmaceutical company pioneering novel small molecule targeted cancer therapeutics, today announced that the U.S. Food and Drug Administration (FDA) has cleared its Investigational New Drug (IND) application for ATX-559, a first-in-class DHX9 inhibitor. In addition, Accent has established a Clinical Advisory Board (CAB) to help guide the Company's progress in the clinic. The ATX-559 Phase 1/2 trial (NCT06625515) is expected to begin dosing patients with a focus on BRCA1- or BRCA2-deficient breast cancer and patients with MSI-H and/or dMMR solid tumors (including certain patients with colorectal, endometrial, gastric, and other cancers) in the fourth quarter of 2024. The clinical study will evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary efficacy of ATX-559. For more information on the trial, visit the study page on ClinicalTrials.gov. "The FDA's IND clearance is a pivotal moment for Accent Therapeutics, propelling our lead program into the clinical arena. This milestone not only validates our scientifically rigorous approach to identifying innovative targets, but also brings us one step closer to helping cancer patients with significant unmet need," said Jason Sager, M.D., Chief Medical Officer of Accent Therapeutics. "ATX-559 has shown remarkable promise in preclinical studies, and we're excited to now evaluate its potential to meaningfully improve outcomes for patients facing these challenging malignancies." As Accent prepares to initiate its first clinical trial, the company has also established a Clinical Advisory Board to guide the advancement of its clinical pipeline. The Clinical Advisory Board consists of renowned clinician-scientists and leaders whose strategic insights and clinical expertise will support the Company's efforts to advance its mission of creating life-changing therapeutics for patients living with cancer. The newly formed Clinical Advisory Board includes: Lillian L. Siu, M.D., FRCPC, medical oncologist, Director of the Phase I Program at Princess Margaret Cancer Centre, Professor of Medicine at the University of Toronto, and President-Elect of the American Association for Cancer Research (AACR) Josep Tabernero, M.D., Ph.D., Professor of Medicine, Head of the Medical Oncology Department at the Vall d'Hebron Barcelona Hospital Campus, and Director of the Vall d'Hebron Institute of Oncology (VHIO) Sam Blackman, M.D., Ph.D., co-founder and Head of Research and Development of Day One Biopharmaceuticals "We are honored to have such distinguished experts join our Clinical Advisory Board as we advance our programs into the clinic," said Shakti Narayan, Ph.D., J.D., Chief Executive Officer of Accent Therapeutics. "Their experience will be invaluable as we work to bring transformative therapies to patients." Accent is also on track to advance its second program, targeting KIF18A in chromosomally instable tumors, into the clinic with a Phase 1 trial anticipated to begin in early 2025. This marks an exciting phase of growth for the company as it continues to build on its foundational platform technology to develop innovative cancer therapies. About ATX-559 ATX-559 is a first-in-class DHX9 inhibitor with the potential to address high unmet need indications not adequately served by existing therapies, such as BRCA-deficient tumors (including breast, ovarian, and others), MSI-H and/or dMMR cancers (including colorectal, endometrial, gastric, and others) and additional undisclosed cancer types representing large patient populations. DHX9 is a DNA/RNA helicase that has been reported to play important roles in replication, transcription, translation, RNA splicing, RNA processing, and maintenance of genomic stability. Inhibition of DHX9 exploits key tumor vulnerabilities, resulting in cancer-specific cell death, and thus this enzyme represents a compelling novel oncology target. Accent retains full worldwide rights to ATX-559 and the DHX9 program. About KIF18A Accent's second lead program is a potential best-in-class inhibitor for KIF18A which may address a large patient population across several cancer indications, including ovarian and triple negative breast cancer (TNBC). KIF18A is a mitotic kinesin motor protein critical for cell division in select tumors with chromosomal instability. A subset of tumor cells with an abnormal number of chromosomes (aneuploid) are reliant on KIF18A and show rapid cell killing in vitro and in vivo upon KIF18A inhibitor treatment, while cells with normal numbers of chromosomes (euploid) are unaffected. About Accent Therapeutics Accent Therapeutics is pioneering a new class of small molecule precision cancer therapies targeting critical intracellular dependencies that span multiple types of cancer. Building upon industry-leading expertise in RNA-modifying proteins (RMPs) and the systematic mapping of both the RMP space and adjacent high-value areas for drug discovery, the company is building a flexible model that allows for a diversity of approaches to developing potentially transformative biomarker-driven cancer medicines. Accent's therapies are designed for both novel and known, but suboptimally addressed, high-impact oncology targets with the potential to benefit large patient populations with significant unmet need. For more information on Accent's mission to translate extraordinary science into life-changing therapeutics for patients living with cancer, visit or follow us on LinkedIn. SOURCE Accent Therapeutics, Inc. 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