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Principal Investigator  
Principal Investigator's Name: Eric Minikel
Institution: Broad Institute
Department: Stanley Center
Country:
Proposed Analysis: I am sequencing a cohort of autopsy-confirmed variably protease sensitive prionopathy (VPSPr) cases to identify genetic factors contributing to this rare subtype of prion disease. I am seeking control cohorts with other neuropathologically confirmed diagnoses, such as ADNI, in addition to in-study controls and general population (gnomAD) controls.
Additional Investigators