Principal Investigator: Professor Jan Veldink
Department: University Medical Center, UtrechtTags: 48361, als, amyotrophic-lateral-sclerosis, GWAS, heritability
Amyotrophic lateral sclerosis, or motor neuron disease, is a devastating neurodegenerative disease affecting 1 in 350 during their lifetime. It is usually fatal within 3-5 years due to failure of the respiratory muscles. While research over the past years has revealed an increasing number of genetic variants contributing to ALS risk, the bulk of heritability in ALS remains to be elucidated. In addition to known rare variants, there is evidence for a central role of low-frequency and rare genetic variation in ALS susceptibility.
The aim of our research is to find (rare) variants causally related to the development of ALS through association studies, both in array based data and sequencing data. We also aim to elucidate more about the population specific genetic architecture of ALS by contrasting different populations with one-another. By incorporating gene-expression information we aim to find genes causally related to ALS and perform pathway analyses on these genes. Furthermore, we will perform enrichment analyses to, among others, investigate what tissues and cell-types are involved.
This research is part of a continuous effort to better understand the genetic basis of ALS. Our efforts could guide fundamental research into ALS biology, improve risk assessment of ALS, help stratify drug trials and provide key insights for potential drug targets.