Rare Disease

In honor of Rare Disease Week, ASHG staff and over 500 rare disease advocates from across the U.S. took part in the EveryLife Foundation for Rare Disease’s 2024 Legislative Conference in Washington, DC, from February 25-28. During this multi-day event participants were educated on policy proposals impacting the rare disease community ahead of a visit... Read More

Published: Monday, July 22, 2019, 12:00 p.m. U.S. Eastern Time Media Contact: Ann Klinck, 301.634.7342, press@ashg.org Geneticist to Receive Award at ASHG 2019 Annual Meeting The American Society of Human Genetics (ASHG) has named Stephen Montgomery, PhD, as the recipient of the 2019 Early-Career Award. Dr. Montgomery is an Associate Professor in the Departments of... Read More

Trainee Author: Saumya Jamuar, MBBS MRCPCH Attending, Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore Asst Professor, Paediatrics ACP, Duke-NUS Medical School, Singapore Clinical Director, Institute of Precision Medicine (PRISM), Duke-NUS Medical School, Singapore PI and Clinical Lead, Singapore Undiagnosed Disease Programme, Singapore Co-founder and co-Chief Scientific Officer, Global Gene Corp (Photo... Read More

For Immediate Release Wednesday, October 3, 2018 10:00 a.m. U.S. Pacific Time Media Contact: Ann Klinck 301.634.7342 press@ashg.org WHEN: Tuesday through Saturday, Oct. 16-20, 2018 WHERE: American Society of Human Genetics 2018 Annual Meeting San Diego Convention Center 111 West Harbor Drive, San Diego, CA 92101 WHAT: Invited and platform sessions and other presentations of... Read More

Trainee Author: Janson White, PhD Senior Fellow Department of Pediatrics, University of Washington (Photo courtesy White) White JJ, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. AJHG. 2018 Jan 4;102(1):27-43. This study was selected for the Trainee Paper Spotlight because it uses extensive genetic and genomic studies to identify new pathogenic... Read More