I am a physician scientist whose translational research lab focuses on inherited neurodegenerative disorders. My lab studies how nucleotide repeat expansions cause or contribute to human diseases, including Fragile X-associated disorders (Fragile X Syndrome and Fragile X-associated Tremor/Ataxia Syndrome), Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Myotonic Dystrophy, and Huntington Disease. We utilize models in Drosophila, mice, cell culture, and human tissues to explore the mechanisms underlying these disorders with a long-term goal of identifying novel therapeutic targets. Much of our current research focuses on how repeat expansions trigger a non-canonical translational initiation process known as repeat associated Non-AUG (RAN) translation and what consequences this process has on neuronal function and neurodegeneration. Our group has won a number of research awards, including the 2017 Deans Award for medical research from U-M, as well as the 2014 Hagerman Prize for innovative research in Fragile X-associated disorders.

In addition to my work as a scientist, I am a board certified neurologist with subspecialty training in movement disorders and neurogenetics and an expertise clinically in inherited neurodegenerative disorders. I regularly see patients with Frontotemporal Dementia, ALS, and other neurodegenerative disorders at the University of Michigan and Ann Arbor VA neurology clinic. I direct the Neurogenetics Clinical Research Program at U-M, aimed at improving our approach to obtaining genetic diagnoses in patients with neurological disease. I also co-direct the U-M Fragile X and Ataxia clinics, both of which draw patients from across the country.