Rosa Rademakers, a dementia researcher at VIB and the University of Antwerp, won the 2026 Breakthrough Prize in Life Sciences for co-discovering the C9orf72 repeat expansion variant as a major genetic cause of FTD and ALS.

Her work, conducted with colleagues, established that an abnormal expansion in the C9orf72 gene is the main genetic link between ALS and FTD, uniting two previously separate fields.

This discovery provided a crucial lead for understanding disease mechanisms, biomarkers, and therapeutic development, accelerating global research and helping several therapies enter clinical trials.

The pivotal finding emerged from Mayo Clinic research in 2011, showing that affected individuals can have hundreds or thousands of repeats in C9orf72, far more than healthy individuals.

The C9orf72 mutation accounts for about one-third of inherited ALS and FTD cases in Europe, enabling genetic testing for families and spurring treatment development, with some therapies now in clinical trials.

Readers are encouraged to learn more about FTD researchers through AFTD’s FTD Science Digest, which profiles scientists and their work advancing understanding and treatment.

The prize highlighted the impact on clinical and research landscapes, including shared disease mechanisms, inheritance patterns, and the growth of genetic counseling and testing for FTD and ALS.

Dr. Traynor, a Dublin-born physician and UCD triple-graduate, co-received the Breakthrough Prize and brings a distinguished background as a senior investigator at the National Institute on Aging.

Traynor emphasized recognizing Rosa Rademakers and colleagues’ contributions and the central role of patient involvement, DNA samples, and clinical data in translating findings to help patients.

Both researchers independently identified in 2011 that C9orf72 mutations are the main genetic cause shared by ALS and FTD, linking the two diseases.

The team described the rare expansion of the C9ORF72 DNA sequence, tying frontotemporal dementia to amyotrophic lateral sclerosis.

Rademakers shared the $3 million Breakthrough Prize with Bryan Traynor, who independently identified the same genetic abnormality.