Donna M. Martin, M.D., Ph.D.

Chair, Department of Pediatrics
Ravitz Foundation Endowed Professor of Pediatrics and Communicable Diseases
Professor of Pediatrics and Human Genetics

Our laboratory research focuses on the genetic basis of neural development and disorders of human development. Specifically, we study genes predicted to influence neuronal stem cell proliferation, differentiation, and migration.  We are interested in the epigenetic roles of an ATP dependent chromodomain  remodeling gene, CHD7, in the developing inner ear, olfactory system, and central nervous system.  CHD7 pathogenic variants in humans cause CHARGE syndrome,  a congenital anomaly condition that affects the brain, eyes, ears, heart, and craniofacial structures.  We use genetic approaches in mice to study how loss of CHD7 disrupts neuronal and organ development.  We ask how changes gene expression with loss or gain of CHD7 and related chromatin remodelers leads to phenotypic variability and how we can modify CHD7 expression or function in cells and tissues. We also participate in collaborative studies to better understand the genetic mechanisms of autism and other developmental disorders of the nervous system. Our studies impact our understanding of how the nervous system and related organs develop, and how we can design therapies to improve outcomes for people affected by these developmental disorders.