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 test for. It also gave drug developers a target, and multiple treatments aimed at the C9orf72 mechanism are now in clinical trials, a point underscored by the Association for Frontotemporal Degeneration.
None of this is a cure yet, and both diseases remain fatal. But naming the cause is the step everything else depends on, and the Breakthrough Prize put a spotlight on it. WYDE has followed the same push from bench to bedside, from Neuralink restoring speech to an ALS patient to an AI model designing drug molecules for any protein pocket. Worth watching.
People Also Ask
What is C9orf72?
C9orf72 is a gene that, when it carries a repeated stretch of DNA, is the most common genetic cause of ALS and frontotemporal dementia. The repeat can occur hundreds to thousands of times.
Who won the 2026 Breakthrough Prize for this work?
Rosa Rademakers, who did the research at the Mayo Clinic, and Bryan Traynor of the National Institutes of Health, for independently identifying the C9orf72 expansion in 2011.
How common is the C9orf72 mutation?
It accounts for roughly a third of inherited ALS and frontotemporal dementia cases in European populations, and a smaller share of cases with no family history.
Are there treatments for C9orf72 disease?
Not yet approved, but multiple therapies targeting the C9orf72 mechanism are in clinical trials. Both ALS and FTD remain fatal for now.