Princip. Investigator: Kevin A. Strauss; Medical Director, Clinic For Special Children Senior Investigator: Gaungping Gao, University of Massachusetts School of Medicine’s Horae Gene Therapy and Li Wiebo Institute for Rare Diseases Research and the Clinic for Special Children The goal of this project is to test an adeno-associated viral vector (AAV) gene therapy […]
Dr. Rebecca Ahrens-Nicklas Children’s Hospital of Philadelphia The team has developed a mouse model of MSUD to examine psychiatric and learning differences commonly observed in those with MSUD. They have observed significant metabolic differences in the brain of a mouse model of MSUD where the biochemical defect is limited to the brain. […]
Neurocognitive Outcomes and Quality of Life in Adults with MSUD Dr. Jessica Gold Children’s Hospital of Philadelphia Successful transition to independent adulthood requires intact executive and adaptive function. These neurocognitive domains are frequently impaired in inherited metabolic disorders (IMD), despite optimal management. For many IMDs, the impact of executive and adaptive dysfunction on long-term out […]