The ASPIRE Path in Molecular Medicine

My thesis project is focused on the neurodevelopmental disease Neurofibromatosis type I. This disease presents with disfiguring tumors across the patient’s PNS, as well as skin discoloration and learning impairments. Building on a previous pilot study, I am currently working with my mentor, Dr. Colleen Niswender, to gain access to BioVU-banked patient DNA samples associated with NF1 patients. We plan to sequence these samples for SNPs associated with the gene GRM7, which codes for the metabotropic glutamate receptor 7. Previous research has identified these SNPs and their corresponding effects on mGlu7 expression as being correlated with learning deficits in patients with neurodevelopmental disorders, but no explicit link has been established with NF1. Considering clinical observations of NF1 patients with learning disabilities have been unable to establish a correlation between the severity of this phenotype and the severity of other NF1 symptoms, we believe GRM7 may act as a modifier gene for this phenotype. Following genotyping of BioVU samples, we plan to conduct mouse studies to further elucidate the connection between GRM7 and NF1 learning deficits, as well as use our large library of mGlu-modifying tool compounds to interrogate and potentially rescue normal learning behavior in mouse models.