Realizing the benefits of human genetics and genomics research for people everywhere.
“Learn from yesterday, work for today, plan for tomorrow, dream for the day after tomorrow…and most of your dreams will come true.” Supriyo De, MD/PhD, is a Staff Scientist at the National Institute on Aging (NIA), part of the National Institutes of Health (NIH). He is a leading bioinformatics expert focusing on the integration of... 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
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
This month on Inside AJHG: Jay Shendure, Greg Findlay & Molly Gasperini on leveraging CRISPR to look for distal regulatory elements affecting gene expression. Read More
Karlene Coleman, BSN, MSN, CGC, AGN-BC, is a Clinical Nurse Coordinator at the Marcus Autism Center at Children’s Healthcare of Atlanta. She has been a member of ASHG for over 20 years. Chris Gunter, ASHG: Tell us about your position and how it fits into your institution and its goals. Dr. Coleman: My position has two main... Read More