Posted By: HGG Advances HGGA: What motivated you to start working on this project? OP: Despite significant advances in our understanding of the genetic basis of complex traits and diseases — and the potential of polygenic scores (PGS) to guide personalized medicine — these tools are still only beginning to enter clinical use. A major... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Jayati Sharma (JS): I have been interested in how our genetics and environment interact to affect our overall physical health for a long time. Given the significant disparities in the health profiles of different minoritized populations in the United States, I... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Anne Gregor (AG): I first became interested in FBXO11, when we and others could link variants in this gene to a variable neurodevelopmental disorder (NDD). As not much was known about neuronal functions of the ubiquitin ligase complex protein FBXO11 and... Read More
By Mike Bamshad, MD, HGG Advances Editor-in-Chief and Jessica Chong, PhD, HGG Advances Deputy Editor This year marks the 5th anniversary of ASHG’s open-access journal, Human Genetics and Genomics Advances (HGG Advances). Over the past five years, HGG Advances has established itself as a leading platform for scientists to share their discoveries. We extend our... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? JM: From the perspective of developmental biology and physiology, I found it fascinating that a gene important for mitochondrial complex IV function could be deleted in its entirety. Yet, more important for me was the opportunity to help a family arrive... Read More