Donna M. Martin, MD, PhD
Photo: Donna M. Martin



(734) 647-4859


Elected 2011

I am Division Director of Pediatric Genetics, Metabolism, and Genomic Medicine at The University of Michigan and Associate Director of the Medical Scientist Training Program. I am also a practicing Clinical Geneticist. My research focuses on identifying molecular mechanisms that regulate neuronal development and translating these findings to human neurodevelopmental diseases. Our studies explore how transcription factors and chromatin remodeling proteins control gene transcription and nucleosome remodeling, thereby influencing expression of key signaling and developmental pathways. We identified novel roles for the transcription factor PITX2 and the ATP dependent chromatin remodeler CHD7 in neural stem cell proliferation, differentiation, and axonal outgrowth. We also discovered CHD7 dependent mechanisms of neural and inner ear development that are modulated by retinoic acid signaling, providing important insights into the influence of intrauterine environments on embryogenesis. Otx, Sox, Bmp, and neurogenic genes were found as key effectors downstream of CHD7, suggesting that multiple developmental signals mediate stem cell proliferation and differentiation dynamics in sensory and neurogenic niches. Our research also implicates CHD-related proteins in preferential regulation of long gene transcription, an emerging common theme for neurodevelopmental disorders including autism and epilepsy. Our research has enhanced understanding of mechanisms underlying nervous system development and function, and is helping guide the design of epigenetic therapies for treating human developmental diseases. I have served on the ASCI Young Physician Scientist Award selection committee since 2015, on the HHMI student hosting committee, and as a poster judge at the annual meeting. I have been a vocal advocate for the physician scientist career and for women in medical science.