Elucidation of the frontotemporal lobar degeneration and amyotrophic lateral sclerosis disease spectrum: genomic characterization of C9orf72 and identification of novel genes.

This research project aims at further unraveling and characterizing the genetic etiology of FTLD-ALS to get a better insight into the disease mechanisms underlying the overlap between both disorders. We will achieve this by two different approaches. First, we will genetically, clinically and pathologically characterize the C9orf72 gene and mutation carriers. This includes extensive genotype-phenotype correlations and unraveling of the mechanism by which the C9orf72 repeat expansion occurs and causes disease. Second, we will explore other novel FTLD-ALS genes causing the disease in FTLD-ALS families unexplained by a C9orf72 repeat expansion by genome-wide linkage, whole-genome sequencing and genome-wide search for repeat expansions.As an ultimate goal, these genes can act as new molecular targets for future therapies.

Keywords:FRONTOTEMPORAL DEMENTIA, MOLECULAR GENETICS

Disciplines:Genetics, Systems biology, Molecular and cell biology