Posted By: HGG Advances HGGA: What motivated you to start working on this project? Most genomic research has focused on individuals of European ancestry and has commonly used imputation panels that contain more European haplotypes, leading to poorer accuracy in other ancestries. In addition, standard panels are largely disease-agnostic, whereas ours is built from Alzheimer’s... Read More
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
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