Inter-University Attraction Poles Phase VII P7/16 Network: An integrated approach towards understanding the pathogenesis of neurodegeneration





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Work Package 2: Genetics, genomics and functional genomics


Partners


Leader: Stuart Maudsley
Co-Leader: Marc Cruts, Philip Van Damme
Belgian Parners: Kristel Sleegers, Jessie Theuns, Julie van der Zee
European Parners: Cornelia M. van Duijn, Bart Dermaut, Jean-Charles Lambert
Associated Parners: Jean-Pierre Brion

Aims

  1. Development and validation of a high-throughput genetic screening method
    Association of G4C2 size with onset age of disease. Comparison of age at onset (AAO) between patients with a short expansion (<80 units) and patients with a long expansion (>80 units) (P < 0.05) (Gijselinck, et al., 2015).

  2. Identification of novel Mendelian genes
  3. Identification of genes modifying the clinical expression of Mendelian mutations
    Manhattan plot of genetic loci showing association with AD in a GWAS meta-analysis including >74,000 individuals (Lambert et al., Nature Genetics 2013). Loci in red font are novel.

  4. Identification of susceptibility genes and pathways