Description
2026 Breakthrough Prize in Life Sciences laureates Rosa Rademakers and Bryan Traynor independently solved a decades-old mystery in neurodegenerative disease by discovering the most common genetic cause of both amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, and frontotemporal dementia (FTD), the second leading cause of early-onset dementia. Through multi-year, international collaborations, they collected large-scale data from families where both ALS and FTD appeared together; and through painstaking genetic analysis they zeroed in on a key genetic trigger for both diseases. In 2011, their labs simultaneously identified a mutation in the C9orf72 gene. It is an expansion mutation – a repeat of the same six-letter sequence of DNA, occurring hundreds to thousands of times in affected individuals.
Watch John Legend and Demis Hassabis award Rademakers and Traynor the Breakthrough Prize: https://youtu.be/YgZCU81UrIY