Understanding the Roles of Risk Loci Implicated in Genome-Wide Association Studies of PSP

Pathway Grant

Principal Investigator: Progressive supranuclear palsy (PSP) is a rare and debilitating neurodegenerative disorder that affects movement, balance, speech, and cognition. There is currently no known cure for PSP, and current treatments can only alleviate symptoms temporarily. Genome-wide association studies (GWAS) are a powerful tool used by scientists to identify genetic variations that are associated with the risk of developing PSP. GWAS analyze leverage large sets of genetic data from thousands of individuals with PSP and compare them to healthy individuals to identify genetic differences that may contribute to the disease. Our group, in collaboration with other members of the PSP genetics consortium, has assembled on of the largest PSP GWAS studies. In this proposal, we will use the data from this study to identify specific genes and biological mechanisms that cause PSP. We will then look at these biological mechanisms in the context of specific populations of cells and their influence on the immune system in the brains of individuals with PSP.