Research Interests
Our group is broadly interested in how human genetic variation affects gene and genome function. One area of research is grounded in the observation that mutations in aminoacyl-tRNA synthetases cause myriad disease phenotypes including dominant axonal neuropathy and recessive syndromes that include neurodevelopmental defects. A second area of research aims to study how gene regulation—via cis-acting transcriptional regulatory elements including enhancers and promoters—plays a role in the development of myelinating cells of the peripheral and central nervous systems. We are always looking for outstanding students and post-doctoral fellows to advance each of these areas