SOD1 gene is the most prevalent rare variant in people with Amyotrophic Lateral Sclerosis

Takeaway

  • Whole genome sequencing identified strong associations between the SOD1 gene and Amyotrophic Lateral Sclerosis (ALS), making it the most common cause of the disease after the well-known C9orf72 expansion.

Why this matters

    The study emphasizes the importance of whole genome sequencing in identifying rare variants of genes, which can be used in the development of targeted therapies for ALS.