The ASPIRE Path in Molecular Medicine

My proposed project is the genetic editing and restoration of function of neurons produced from patients with HIKESHI hypomyelinating leukodystrophy. HIKESHI hypomyelinating leukodystrophy is a rare, highly fatal, white-matter disease caused by a mutation of the HIKESHI gene. HIKESHI is a nuclear import carrier for HSP70 during heat shock response. Symptoms of the disease include epilepsy, developmental delay, muscle issues, and an extreme sensitivity to heat with febrile illnesses causing cardiomyogenic and septic shock. My project strives to grow neurons and related cells from patient samples and to understand the mechanism to allow for creation of therapeutics. These therapeutics include genetic editing to restore function of the HIKESHI gene as well as targeting related proteins with administrable drugs. This project is translational based as we are using patient samples and targeting our therapeutics to create personalized medicine. Fully understanding these mechanisms and techniques would also allow for treatment of other leukodystrophies and pediatric neurological conditions.