National Institutes of Health studies link between Alzheimer's and Down syndrome.
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Jamie Barrand | Nov 20, 2015

National Institutes of Health studies link between Alzheimer's and Down syndrome

The link between Alzheimer’s and Down syndrome has been well-documented, and the National Institutes of Health recently started a new program hoping to discover biomarkers that will enable health care providers to evaluate how Alzheimer's develops in people living with Down syndrome. People with Down syndrome carry an extra copy of chromosome 21 -- a gene that plays a key role in producing amyloid plaque, the sticky clumps that build up outside neurons, a marker of Alzheimer's disease. 

“This is the first large-scale Alzheimer’s biomarker endeavor to focus on this high-risk group,” Dr. Laurie Ryan, chief of the Dementias of Aging Branch in NIA’s Division of Neuroscience, said. “Much like the long-established Alzheimer’s Disease Neuroimaging Initiative, the goal of this initiative is to develop biomarker measures that signal the onset and progression of Alzheimer’s in people with Down syndrome. Hopefully, one day, we will also use these biomarkers to determine the effectiveness of promising treatments.”

The presence of this extra gene means those with Down syndrome are at increased risk for early-onset Alzheimer's (Alzheimer's that presents itself when a patient is in his or her 30s, 40s or 50s). By the time people with Down syndrome reach middle age, many have developed Alzheimer's symptoms.

Although this is known, not much research has been done about how Alzheimer's progresses in adults with Down syndrome. In the NIH study, research teams will use brain imaging and fluid and tissue biomarkers. Data and samples from the study will be made readily available to qualified researchers.

The studies will receive $37 million in funding over the next five years from the National Institute on Aging (NIA) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both part of NIH.

“Over the past 30 years, the average lifespan of people with Down syndrome has doubled to 60 years -- a bittersweet achievement when faced with the possibility of developing Alzheimer’s,” Dr. Melissa Parisi, chief of the NICHD Intellectual and Developmental Disabilities Branch, said. “There is much to learn about Alzheimer’s in Down syndrome, and we’re hopeful that these new projects will provide some answers. One mystery we hope to solve is whether or not the disease progresses at a faster rate in this group.”

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