Project 1: Whole-genome sequencing for gene identification in families with inherited forms of neurodegeneration

This project focuses on using next-generation DNA sequencing for novel gene identification in families with path-confirmed alpha-synucleinopathy or tauopathy. Researchers perform whole-genome sequencing on cousin-pairs from two families a year (one of each pathology type) with follow-up in extended family members and appropriate population-based studies of Parkinson's disease (alpha-synucleinopathy) or progressive supranuclear palsy (tauopathy).

The specific aims are to:

  1. Focus on families with alpha-synucleinopathy variant identification, gene nomination and confirmation, with subsequent functional characterization of the candidate protein (for example, interaction with alpha-synuclein and tau)
  2. Follow the same path for identification and characterization of novel genes for tauopathy
  3. Examine relevance of each novel gene from a global patient-control population approach and determine clinical relevance and inherent risk estimates of populations