Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? JM: I’m really interested in the field of interventional genetics and the idea that, by understanding the genetic variant underlying a disease, we can begin to develop therapeutic interventions! AJHG: What about the paper/project most excites... Read More
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? WL: I started working on this project in 2021, shortly after finishing my master’s in Biostatistics at Yale. At the time, large-scale phenome-wide rare-variant association results from biobanks were just starting to emerge, giving us... 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