Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? XS: Alzheimer’s disease risk differs across populations, but much of the genetic and transcriptomic work in the field has historically focused on cohorts of European ancestry. That makes it harder to determine which disease-associated regulatory mechanisms are shared across... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? AT: With my PhD training in statistical genetics and genomics, I was eager to complement my discovery-focused training with functional genomics approaches during my postdoc. During this stage of my training, I’ve focused on using massively parallel reporter assays (MPRAs), which are used to measure... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? HC: This project came out of an ongoing collaboration with Wendy K. Chung, MD, PhD. We have been working together on a series of neurodevelopmental disease genes—her team handles patient ascertainment and genomic analysis, and our lab contributes Drosophila-based functional genomics. MARK2 was... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? JA: There are several important motivations for this work. First, breast cancer is a prevalent female cancer, affecting approximately one in eight women in the United States. This means we all know someone affected by breast cancer and have... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KL: We kept running into GWAS loci where the whole “one variant, one gene” story felt incomplete. You’d fine-map to a regulatory region sitting between multiple genes, and everyone would argue about which one was “the” causal gene—but what if that was... Read More