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Director, Center for NeuroGenetics, Kitzman Family Professor of Molecular Genetics at University of Florida
Laura Ranum, Ph.D. uses gene discovery and mouse models to understand neurologic disease. Her laboratory identified the mutations that cause myotonic dystrophy type 2 (DM2), spinocerebellar ataxia types 5 (SCA5) and spinocerebellar ataxia type 8 (SCA8) and developed mouse models to understand the biology of each of these diseases. Her work showed RNA gain of function effects contribute to myotonic dystrophy (DM) and demonstrated bidirectional expression and reduced penetrance in SCA8. In 2011 her laboratory discovered “repeat associated non-ATG (RAN) translation”, a novel form of translation in which expansion mutations express proteins in all three reading frames without the canonical start codon. Additionally, her group showed that RAN proteins accumulate in SCA8 and DM1 patient tissues. These findings were initially controversial but since this discovery, her group and other groups have shown RAN proteins also accumulate in C9orf72 ALS/FTD, fragile X tremor ataxia syndrome (FXTAS) and Huntington’s disease. Dr. Ranum’s group is now focused on understanding the mechanisms of RAN translation and the impact of RAN proteins in neurological disease. Ranum recently developed a BAC mouse model of C9orf72 ALS/frontotemporal dementia that develops the molecular and neurodegenerative features of the disease and shows significant promise as a tool to understand and develop therapies for this devastating disorder.