Anthony Antonellis, PhD

Professor of Human Genetics

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