Realizing the benefits of human genetics and genomics research for people everywhere.
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
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 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
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
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