Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? SA: This project grew naturally from our previous work showing that sensory and metabolic age-related hearing loss have distinct genetic profiles. We wanted to take the next step and ask whether these genetic differences could be... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KA: In the beginning I was really interested in characterizing Pilarowski-Björnsson Syndrome (PILBOS), as a recently identified genetic disorder. I was motivated by the open-ended potential for uncovering the biological mechanisms of the disorder and for... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? TT: This project started with a family affected by a rare X-linked recessive neurological disease where a genetic diagnosis had been pursued for many years. When I joined the project, the disease had recently been linked... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? NB: I think the topic of outliers is really interesting! At the start of my PhD, there were two ways I was thinking about outliers: people who have extreme observed values, and people who have extremely different... Read More
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