Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? TS: Expanding from rare inborn errors of immunity to population-scale genomics has been a transformative experience for me. While single-gene disorders gave me a strong foundation in genetics and immunology, I was particularly motivated to explore... Read More
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