Trainee

“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

Written by Training and Development Committee member, Julie Jurgens. August 2017 Orlando, Here We Come! With ASHG’s 2017 Annual Meeting right around the corner, it’s time to start thinking about how to make the most of all that this event has to offer. The meeting offers many opportunities for trainees to present their work, develop career... Read More

Nascent Transcript writer Brooke Wolford interviewed Rachel Gore, who will be a 2018 graduate of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. August 2017  Genetic counselors are an integral part of the American Society of Human Genetics, with a perspective that informs and inspires both science and policy, complementing the work of PhD and... Read More