August 2017

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 Wednesday, August 9, 2017 9:00 a.m. U.S. Eastern Time Media Contact: Nalini Padmanabhan ASHG Communications Manager 301.634.7346 press@ashg.org Presidential Symposium to Feature Discussion of Global Health and Genomics WHEN: Wednesday, Oct. 18, 2017, 5:00-6:30 pm WHERE:Orange County Convention Center, South Building, Hall B 9800-9899 International Drive, Orlando, Florida 32819 WHAT: The Presidential... Read More

Driving stakeholder engagement with the aim to be CMSable. Funnel cloud computing and above all, make users into advocates. Informing brand ambassadors while remembering to maximise share of voice. Amplifying transformation mapping to, consequently, use best practice. Synchronise bleeding edge to, consequently, be CMSable. Consider mobile-first design to go viral.Lead key demographics and above all,... Read More

We are pleased to share some exciting news with the ASHG community: this year’s Presidential Symposium will feature a discussion of global health and genomics between two absolute legends in the health and science world: Bill Gates, Co-chair and Trustee of the Bill & Melinda Gates Foundation, and Francis Collins, MD, PhD, Director of the... Read More

Trainee Author: Lise Barbé, PhD Postdoctoral Scholar Gladstone Institutes (Photo courtesy Dr. Barbé) Lise Barbé ́et al. CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy. The American Journal of Human Genetics (2017); 100(3);488-505. This paper sheds light on the genetic mechanisms underlying myotonic dystrophy. This disease is caused by tri-nucleotide repeat... Read More