Amyotrophic Lateral Sclerosis study on dbGaP (4,420 participants)

phs003067 — Using NGS to Sequence Whole Genomes to Identify Genes Underlying ALS

<p>Our ALS Consortium - a partnership of clinicians, basic scientists, geneticists, and computational biologists from 48 institutions (4 of which are industry partners) across 5 countries - establishes a framework to apply whole genome sequencing (WGS) and functional genomics to the study of amyotrophic lateral sclerosis (ALS). Because ALS-causing mutations tend to be of moderate impact and are relatively rare in the population (reviewed in Al-Chalabi et al., 2017, PMID: <a href="https://pubmed-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/27982040/">27982040</a>), identification of new mutations require several thousand samples, which need to be obtained from multiple sites (even the busiest ALS clinics see only 200-400 patients per year). </p><p>ALS Consortium is using genomics technologies to study the causes and mechanisms underlying neurodegenerative disease, and the contribution of various cell types within the brain and spinal cord. Much of this work is done and continues to be done in collaboration with the members of the <a href="https://www.nygenome.org/als-consortium/">NYGC ALS Consortium</a>.</p>