Rare Disease

ASHG Honors Stephen Montgomery with Early-Career Award

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 Paper Spotlight: Saumya Jamuar

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

ASHG 2018 Tipsheet: Rare Disease Genetics

ASHG 2018 Tipsheet: Rare Disease Genetics

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 Paper Spotlight: Janson White

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

Online Resource Enables Open Data Sharing for Rare Mendelian Diseases

Embargoed for Release Wednesday, October 18, 2017 9:45 a.m. U.S. Eastern Time Media Contact: Nalini Padmanabhan ASHG Director of Communications and Marketing 301.634.7346 press@ashg.org Findings Reported at ASHG 2017 Annual Meeting BETHESDA, MD – MyGene2, a new open data resource, helps patients with rare genetic conditions, clinicians, and researchers share information, connect with one another,... Read More

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