JACKSONVILLE, Fla. — Rosa Rademakers, Ph.D. , a neurogeneticist whose work at Mayo Clinic led to a landmark finding in neurodegenerative disease, has been awarded the 2026 Breakthrough Prize in Life Sciences for the discovery of the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) , which charted the path for new mechanistic studies of these diseases.
The Breakthrough Prize recognizes Dr. Rademakers' role in discovering the C9orf72 hexanucleotide repeat expansion, a genetic mutation that fundamentally reshaped understanding of FTD and ALS, also known as Lou Gehrig's disease, and is the most common inherited cause of both conditions.
Watch: Dr. Rosa Rademakers explains ALS-dementia gene research and discovery
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The discovery, published in 2011 alongside complementary work by a separate research team, led by Bryan Traynor, M.D., Ph.D., at the National Institute on Aging, National Institutes of Health, revealed for the first time that these two conditions — long studied as separate diseases — shared a common genetic origin.
FTD affects behavior, personality and language, while ALS causes progressive loss of muscle control. By establishing a genetic link between the two, the discovery transformed how scientists now study, diagnose and treat these conditions.
A mutation in the C9orf72 gene causes a segment of DNA to repeat excessively, disrupting normal cellular function and damaging nerve cells in the brain and spinal cord.
The discovery provided long-sought answers for families affected by inherited forms of ALS and FTD — enabling more accurate diagnosis, informing genetic counseling and accelerating global research efforts focused on targeted therapies.
"The Breakthrough Prize is a powerful affirmation that the work happening at Mayo Clinic is changing the trajectory of human health," says Vijay Shah, M.D. , Kinney Executive Dean of Research at Mayo Clinic. "This global recognition underscores the importance of relentless curiosity, scientific rigor and a commitment to improving lives."
Today, genetic testing for the C9orf72 mutation is incorporated into the clinical evaluation for some patients and families, helping clinicians identify people at risk. At the same time, therapies now in clinical trials are designed to target the underlying biology uncovered by this discovery.
Dr. Rademakers made this discovery while leading a neurogenetics laboratory at Mayo Clinic in Florida . The work was made possible through access to the Mayo Clinic Brain Bank , which includes patient samples paired with detailed clinical and family histories; the Mayo Clinic Alzheimer's Disease Research Center ; and additional patient samples collected across Mayo Clinic, including from individuals with FTD, ALS and other neurodegenerative conditions.
The research highlights Mayo Clinic's integrated model of care and discovery, bringing together clinicians and scientists to accelerate advances in understanding and treating complex neurological diseases. That collaborative approach continues to drive progress in genetic screening and translational research for ALS, FTD and related conditions today.
Dr. Rademakers served on the Mayo Clinic faculty from 2005 to 2019 and continues to collaborate with colleagues as a supplemental consultant in the Department of Neurosciences . She is currently the director of the VIB Center for Molecular Neurology at the University of Antwerp in Belgium.
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