Current Status: M3
Graduate Department: Neuroscience
Other Degrees: BS in Neuroscience and Behavioral Biology, Emory University;
Hometown: Atlanta, GA
I am currently learning how to play the drums! Who wants to start a rock band with me? I also like going hiking, skiing, laying out by the lake/ocean/pool, and doing jig saw puzzles (yes I said jig saw puzzles)
Pathogenesis of novel FMR1 mutations in Fragile X Syndrome
My work involves the study of novel point mutations in the FMR1 gene and their role in the pathogenesis of Fragile X Syndrome, the most common hereditary cause of intellectual disability. Classically, Fragile X Syndrome is caused by loss of the protein FMRP due to a trinucleotide repeat expansion mutation in the FMR1 gene. However, point mutations within FMR1 have also been reported in some patients, and my goal is to determine whether these mutations disrupt the normal function of FMRP. This will give insight into the mechanisms of disease in patients with non-traditional FMR1 mutations, as well as provide greater understanding of the normal functions for FMRP, a protein crucial to many forms of learning and memory.