• Florida

    Mayo Clinic Researcher Honored for ALS Genetic Discovery

JACKSONVILLE, Fla. — For her work in uncovering the genetic link between two different but related forms of neurodegenerative disease, Rosa Rademakers, Ph.D., a neurogeneticist at Mayo Clinic in Florida, will receive the 2013 Sheila Essey Award today during the annual meeting of the American Academy of Neurology (AAN).

In 2011, Dr. Rademakers and her team of scientists discovered a genetic abnormality that is the most common cause of both frontotemporal dementia and amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.

They discovered that a repeating gene expansion is found in about 30 percent of people with familial ALS and frontotemporal dementia and 5 percent of ALS and frontotemporal dementia patients without a family history of disease. Dr. Rademaker's work opened up new avenues for research into these devastating diseases, allowing researchers to better understand the mechanisms leading to ALS and frontotemporal dementia that is critical for the development of future treatments.

The Essey Award recognizes individuals who have made significant research contributions in the search for the cause, prevention of, and cure for ALS, a motor neuron disease that currently does not have a cure or restorative therapy.

Dr. Rademakers will share the $25,000 award, which is to be used for continuing ALS research, with Bryan Traynor, M.D., Ph.D., of the National Institute on Aging in Bethesda, Md. Dr. Rademakers and Dr. Traynor made their discoveries independently, and published their findings at the same time in different scientific journals.

"I am honored to receive this award for my research and hope that it will continue to lead to many more significant discoveries in ALS," says Dr. Rademakers.

Based on her discoveries, scientists at Mayo Clinic reported in February that they found a potentially new therapeutic target and biomarker that would allow clinicians to confirm diagnosis of ALS and frontotemporal dementia in their patients. Dr. Rademakers was co-author of that study, published in the journal Neuron.

The Essey Award is supported through the philanthropy of the Essey Family Fund and The ALS Association and is sponsored by the American Academy of Neurology and The ALS Association.

The academy's 65th annual meeting will be held March 16–23, 2013, in San Diego. The AAN annual meeting is the world's largest gathering of neurologists, with more than 10,000 attendees and more than 2,300 scientific presentations on the latest research advancements in brain disease.