Rare Disease

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

Trainee Paper Spotlight: Johanna Känsäkoski

Trainee Author: Johanna Känsäkoski PhD student University of Helsinki (Photo courtesy Känsäkoski) Johanna Känsäkoski et al. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. Scientific Reports (2016); 6: 32819. This paper highlights the use of sequencing technology to identify causative mutations in patients with a normal androgen receptor... Read More

ASHG Honors Daniel MacArthur with Inaugural Early-Career Award

For Immediate Release Friday, July 14, 2017 12:00 p.m. U.S. Eastern Time Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org Geneticist to Receive Award at ASHG 2017 Annual Meeting BETHESDA, MD – The American Society of Human Genetics (ASHG) has named Daniel MacArthur, PhD, Assistant Professor in the Analytic and Translational Genetics Unit at... Read More

ASHG Honors Nicholas Katsanis with 2017 Curt Stern Award

For Immediate Release Wednesday, July 5, 2017 12:00 p.m. U.S. Eastern Time Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org Geneticist to Receive Award at ASHG 2017 Annual Meeting BETHESDA, MD – The American Society of Human Genetics (ASHG) has named Nicholas Katsanis, PhD, Director of the Center for Human Disease Modeling, Professor of... Read More

Drosophila Study Hints at Diet-Based Treatment for NGLY1 Deficiency

Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org For Immediate Release Thursday, October 20, 2016 11:30 a.m. U.S. Pacific Time Findings Reported at ASHG 2016 Annual Meeting BETHESDA, MD – Researchers studying Drosophila fruit flies have found that in flies, providing a common dietary supplement prevents death caused by Pngl deficiency, the fly analog... Read More

ASHG uses cookies to provide you with a secure and custom web experience. Privacy Policy