Genetic risk and architecture of amyotrophic lateral sclerosis

Abstract

The aim of this thesis was to identify new genetic susceptibility factors, describe the genetic architecture of ALS and explore the utility of gene expression profiles as a biomarker for ALS. Following the technical advances over time, this thesis includes single gene studies, genome-wide associations studies (GWAS), transcriptome analyses and whole genome sequencing studies. Leveraged together, they have led to several conclusions and perspectives.