Summary
PROJECT 4 SUMMARY Recent genetic studies have established that rare loss-of-function mutations in the Sortilin-related Receptor 1 (SORL1) gene confer extremely high risk for developing Alzheimer’s disease (AD). Currently, over 500 known coding variants in SORL1 have been described, although the pathogenicity of these variants and how they impact SORL1 biology and downstream biofluid profiles are largely unknown. As discussed in the Overview, this Program Project Grant (PPG) will initially tackle this question by relying on a recently developed prioritization framework designed to identify SOR
