Discovery of Novel Genetic Pathways During Development: From Human Phenotypes to Molecular Mechanisms
Donna Martin, MD, Ph.D.,
University of Michigan
Dr. Martin is Division Director of Pediatric Genetics, Metabolism, and Genomic Medicine at The University of Michigan and Associate Director of the Medical Scientist Training Program. She is also a practicing Clinical Geneticist. Her research focuses on identifying molecular mechanisms that regulate neuronal development and translating these findings to human neurodevelopmental diseases.
Work in her laboratory has explored how transcription factors and chromatin remodeling proteins control gene transcription and nucleosome remodeling, thereby influencing expression of key signaling and developmental pathways. She has identified novel roles for the transcription factor PITX2 and the ATP dependent chromatin remodeler CHD7 in neural stem cell proliferation, differentiation, and axonal outgrowth.
Her group also has 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, retinoic acid signaling and neurogenic genes function as key effectors downstream of CHD7, suggesting that multiple developmental signals mediate stem cell proliferation and differentiation dynamics in sensory and neurogenic niches.
Our long-term research goal is to enhance the understanding of mechanisms underlying nervous system development and function, and guide the design of epigenetic therapies for treating human developmental diseases.