The Breakthrough Prize Honors the C9orf72 Discovery Behind ALS and Dementia

The 2026 Breakthrough Prize in Life Sciences recognized Rosa Rademakers and Bryan Traynor, whose 2011 finding named the most common genetic cause of ALS and frontotemporal dementia and opened the door to today's trials.

The Breakthrough Prize Honors the C9orf72 Discovery Behind ALS and Dementia The 2026 Breakthrough Prize in Life Sciences recognized Rosa Rademakers and Bryan Traynor, whose 2011 finding named the most common genetic cause of ALS and frontotemporal dementia and opened the door to today's trials. Aaron Rafferty July 01, 2026 Key Takeaways The 2026 Breakthrough Prize in Life Sciences honored Rosa Rademakers and Bryan Traynor for finding the most common genetic cause of ALS and frontotemporal dementia. In 2011 their labs independently identified a repeat expansion in the C9orf72 gene, a short DNA sequence copied hundreds to thousands of times. The mutation accounts for roughly a third of inherited ALS and FTD cases in European populations, and multiple C9orf72 therapies are now in clinical trials. The Breakthrough Prize, often called the Oscars of Science, spent one of its 2026 awards on a discovery that reshaped how doctors understand two brutal brain diseases. Rosa Rademakers, who did the work at the Mayo Clinic, and Bryan Traynor of the National Institutes of Health were honored for naming the most common genetic cause of both amyotrophic lateral sclerosis, or ALS, and frontotemporal dementia. In 2011, working separately, their labs landed on the same answer. A stretch of DNA in a gene called C9orf72 was repeating itself, the same six letters copied hundreds and sometimes thousands of times, in people whose families carried both diseases, Science reported. That single finding tied ALS and FTD together as parts of one spectrum rather than two unrelated conditions. The number that followed is what made it matter. The C9orf72 expansion accounts for roughly a third of inherited ALS and FTD cases in European populations, which turned a mystery into something doctors could