Dr. Rosa Rademakers

Brilliant work is being done in genomic medicine throughout many areas of research at Mayo Clinic.  Not all of it originates at the Center for Individualized Medicine.  It crosses nearly all the departments and involves many physicians and researchers.  From time to time, we try to highlight some of this important work here on the CIM blog.

Rosa Rademakers, Ph.D., a neurogeneticist on Mayo Clinic’s Florida campus, will receive one of the highest honors in neuroscience: the 2016 Potamkin Prize for Research in Pick’s, Alzheimer’s and Related Diseases. Dr. Rademakers’ research into dementia and other neurological disorders comes at an important time as more and more Americans are faced with the devastating consequences of suffering from some form of dementia.

Alzheimer’s disease is the most common form of dementia in those over the age of 65. As many as 5 million Americans age 65 and older may have Alzheimer’s, and, according to the National Institutes of Health’s National Institute of Neurological Disorders and Stroke, that number is expected to double for every 5-year interval beyond age 65. But Alzheimer’s is only one of many neurological disorders.

Yet new research suggests some positive signs.  Dr. Rademakers’ studies is one of them.  Here is the full announcement of Dr. Rademakers winning the Potamkin Prize and highlights from some of her research.

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Florida Scientist to Receive International Award for Advances in Dementia Research

Rosa Rademakers, Ph.D., a neurogeneticist on Mayo Clinic’s Florida campus, will receive one of the highest honors in neuroscience: the 2016 Potamkin Prize for Research in Pick’s, Alzheimer’s and Related Diseases.

The $100,000 prize is an internationally recognized tribute for advancing dementia research. It recognizes major contributions to the understanding of the causes, prevention, treatment and cure for Pick's, Alzheimer's and related diseases.

Dr. Rademakers’ research laboratory has made several significant discoveries in the molecular genetics of some of the world’s most devastating neurological diseases, including Alzheimer's disease, frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), as well as Parkinson’s disease-related syndromes.

“The physicians and scientists of Mayo Clinic are proud of Dr. Rademakers’ achievements on behalf of our patients and patients everywhere,” says John Noseworthy, M.D., president and CEO, Mayo Clinic.

In 2011, Dr. Rademakers’ laboratory identified that an unusual mutation of the C9orf72 gene is the most common cause of ALS and FTD. This explained the disease in more than 30 percent of ALS patients, and about 25 percent of FTD patients who have other family members with dementia or ALS. Her laboratory has since discovered several genetic factors that help explain why some people with the C9orf72 mutation develop ALS, while others develop FTD.

“Winning the Potamkin Prize is a great honor for me,” says Dr. Rademakers. “I feel fortunate to be in the company of many of my colleagues who have also won this award. It could not have happened without the work of all of the people in my laboratory, and so I hope they see this as recognition of their achievement, as well.”

The identification of the C9orf72 mutation was not the first contribution of Dr. Rademakers to unraveling the genetic basis of FTD and related diseases. In 2006, her laboratory played a key role in the discovery of mutations in the progranulin gene, another major cause of FTD. Her laboratory developed a highly predictive blood test to detect progranulin mutations in dementia patients and provided important insight into the regulation of the progranulin protein.

Discoveries of genetic targets such as C9orf72 and progranulin form the basis of diagnostic testing and therapies, and help gain insight into how diseases develop — and how to prevent them. “Being able to provide new leads that could result in treatment strategies for patients with these devastating diseases is the most rewarding part of research,” says Dr. Rademakers.

“We congratulate Dr. Rademakers and her research team on advancing our understanding of dementia,” says Gianrico Farrugia, M.D., CEO, Mayo Clinic in Florida. “At Mayo Clinic, world-leading research informs everything we do. We are grateful that, for the fifth time, the Potamkin Prize recognizes a current Mayo researcher’s commitment to advancing our understanding of Alzheimer’s disease and dementias.”

Mayo Clinic is a world leader in research to advance the understanding and treatment of Alzheimer’s disease and related dementias. Research at Mayo Clinic produces discoveries that translate to new diagnostics, treatment and prevention strategies for some of the most complex neurological diseases of our time. Prior recipients of the Potamkin Prize on staff at Mayo Clinic are Steven Younkin, M.D., Ph.D.; Ronald Petersen, M.D., Ph.D.; Clifford Jack Jr., M.D.; and Dennis Dickson, M.D.

Dr. Rademakers is the Mildred A. and Henry Uihlein II Professor of Medical Research in Mayo Clinic College of Medicine. Her research is funded by the National Institutes of Health, the Mayo Clinic Alzheimer's Disease Research Center, the Mayo Clinic Morris K. Udall Center of Excellence in Parkinson's Disease Research, and the National Institute of Neurological Disorders and Stroke. She also receives support from the ALS Therapy Alliance, the Florida Department of Health's Ed and Ethel Moore Alzheimer's Disease Research Program, and the Consortium for Frontotemporal Dementia Research.

The Potamkin Prize is awarded annually by the American Academy of Neurology (AAN) and the American Brain Foundation. Dr. Rademakers will receive the award on April 18, 2016, at the world’s largest gathering of neurologists — the AAN’s 68th Annual Meeting, in Vancouver, British Columbia.

Watch this video as Dr. Rademakers discusses her work and the award.
https://www.youtube.com/watch?v=nmlI2KEjmrY
 

Tags: Alzheimer’s disease, center for individualized medicine, dementia, Dr. Rosa Rademakers, Genetic Testing, Genetics, Potamkin Prize, Uncategorized