MD, PhD, University of Wisconsin
Our research focuses on how RNA processing and local protein translational control impact neuronal function and neurological disease. We do this predominantly by studying expansions of repetitive nucleotide sequences that cause a variety of human neurological syndromes. We currently focus on two repeats cause neurodegeneration: a CGG repeat that causes Fragile X-associated Tremor Ataxia Syndrome (FXTAS: Ataxia, tremors and dementia) and a GGGGCC repeat that causes ALS and Frontotemporal Dementia (C9orf72 associated ALS/FTD). We also study how large CGG repeats lead to intellectual disability and autism in Fragile X Syndrome. To approach these problems, we use a wide variety of tools, including cell, fly, and murine models as well as human stem cells and collaborate widely with investigators on campus and around the world. The long term goal of the lab is to define novel therapeutic targets that can be used to develop effective treatments for these disorders.