Anthony Antonellis, Ph.D.

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. The second area of research aims to study how gene regulation—via cis-acting transcriptional regulatory elements, including enhancers and promoters—plays a role in developing myelinating Schwann cells of the peripheral nervous system. We are always looking for outstanding students and post-doctoral fellows to advance in these areas.