Genomics

The National Institute of Aging (NIA) leads NIH’s research on the biological, clinical, behavioral and social aspects of aging. Dr. Richard Hodes has served as director of the institute since 1993.  We spoke with Dr. Hodes recently about NIA’s priorities, the institute’s investments in human genetics and genomics research, and NIA’s commitment to addressing structural... Read More

Professional Practice and Social Implications Committee (PPSI) Co-chairs Kyle Brothers, MD, PhD, and Sarah Tishkoff, PhD, recently organized a session titled, “Polygenic Risk Scores: Uses and Misuses in Health, Research, and Society.” They held the session on February 10, 2021, part of the American Association for the Advancement of Science (AAAS) 2021 Annual Meeting, to... Read More

Stephanie Morris, PhD, is a Program Director in NHGRI’s Division of Genome Sciences. She manages a portfolio of grants and initiatives in technology development and functional genomics, including the ENCODE program. Below, Dr. Morris describes a new program launched by NHGRI — the Impact of Genomic Variation on Function Consortium — which aims to advance... Read More

Many are working on the front lines of the COVID-19 pandemic – first responders, physicians, nurses, and scientists. ASHG is so very grateful for the many individuals and organizations within the human genetics and genomics community who are working tirelessly to care for the sick, build testing capacity, and develop treatments to save millions of... Read More

Author: Iris Nira Smith, PhD Postdoctoral Fellow Genomic Medicine Institute Lerner Research Institute Cleveland Clinic Smith IN, et al. Conformational dynamics and allosteric regulation landscapes of germline PTEN mutations associated with autism compared to those associated with cancer. 2019 American Journal of Human Genetics. May 2;104(5):861-878\ Why do mutations in the same gene sometimes lead... Read More