Mayo Clinic Researcher Awarded Breakthrough Prize for ALS-Dementia Gene Discovery

Dr. Rosa Rademakers' groundbreaking work uncovers genetic link between frontotemporal dementia and ALS.

Apr. 18, 2026 at 11:04pm

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A bold, abstract painting in muted earth tones depicts a complex, interconnected web of geometric shapes and organic patterns, representing the intricate biological mechanisms behind the genetic mutation that connects frontotemporal dementia and ALS.Dr. Rosa Rademakers' groundbreaking discovery of the genetic link between frontotemporal dementia and ALS has transformed scientific understanding and treatment of these devastating neurodegenerative conditions.Today in Jacksonville

Mayo Clinic neurogeneticist Dr. Rosa Rademakers has been awarded the 2026 Breakthrough Prize in Life Sciences for her discovery of the C9orf72 genetic mutation, the most common cause of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Her work revealed for the first time that these two devastating neurodegenerative conditions share a common genetic origin, transforming how scientists study, diagnose and treat these diseases.

Why it matters

Dr. Rademakers' discovery provided long-sought answers for families affected by inherited forms of ALS and FTD, enabling more accurate diagnoses, informing genetic counseling, and accelerating global research efforts focused on targeted therapies. The finding that these two conditions are linked at the genetic level has fundamentally reshaped scientific understanding of neurodegenerative diseases.

The details

The C9orf72 genetic mutation causes a segment of DNA to repeat excessively, disrupting normal cellular function and damaging nerve cells in the brain and spinal cord. This discovery, published in 2011 alongside complementary work by a separate research team, revealed for the first time that FTD and ALS - long studied as separate diseases - share a common genetic origin. FTD affects behavior, personality and language, while ALS causes progressive loss of muscle control.

  • The discovery was published in 2011.
  • Dr. Rademakers was awarded the 2026 Breakthrough Prize in Life Sciences.

The players

Rosa Rademakers

A neurogeneticist whose work at Mayo Clinic led to the landmark finding in neurodegenerative disease, and 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).

Bryan Traynor

A researcher at the National Institute on Aging, National Institutes of Health, who led a separate research team that published complementary work to Dr. Rademakers' discovery.

Vijay Shah

The Kinney Executive Dean of Research at Mayo Clinic, who says the Breakthrough Prize recognition underscores the importance of the work happening at Mayo Clinic to improve human health.

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What they’re saying

“The Breakthrough Prize is a powerful affirmation that the work happening at Mayo Clinic is changing the trajectory of human health.”

— Vijay Shah, Kinney Executive Dean of Research at Mayo Clinic

What’s next

Genetic testing for the C9orf72 mutation is now 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.

The takeaway

Dr. Rademakers' groundbreaking work has fundamentally reshaped scientific understanding of neurodegenerative diseases like frontotemporal dementia and ALS. By uncovering the shared genetic link between these two conditions, her discovery has enabled more accurate diagnoses, informed genetic counseling, and accelerated the development of targeted therapies - transforming the outlook for patients and families affected by these devastating disorders.