Identifying Novel Neurodegenerative Pathways in Rare Pediatric Disorders
While typically viewed as diseases of aging, neurodegenerative diseases can affect anyone. There are many commonalities between pediatric and adult neurodegenerative conditions, and rare monogenic pediatric conditions have provided important insight into understanding common mechanisms of neurodegeneration. For example, pediatric diseases like Leigh Syndrome and Batten disease have been informative for understanding the role of autophagy and mitochondrial and lysosomal dysfunction in neurodegeneration. This project will expand the functional genomics pipeline at the Children’s Hospital of Philadelphia to leverage deep phenotyping, multi-omics and animal models to understand the mechanisms underlying a collection of rare monogenic pediatric neurodegenerative diseases.