NIH Backs Collaborative Research on Alzheimer’s in Down Syndrome

The collaborative research effort hopes to identify biomarkers that can be applied to other populations.

A new research initiative supported by the National Institutes of Health (NIH) will seek to identify biomarkers and track the progression of Alzheimer’s disease in people with Down Syndrome.

The occurrence of Alzheimer’s in people with Down Syndrome is fairly well understood, as those with the neurodevelopmental disorder are born with an extra copy of chromosome 21, which includes the amyloid precursor protein gene. However, Alzheimer’s presents earlier in this population compared to those without Down Syndrome, with most showing signs of Alzheimer’s by middle age.

Ultimately, the goal is to identify biomarkers that signal the onset and progression of the disease — biomarkers that perhaps will also be useful in populations without Down Syndrome — in order to determine effective treatments.

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“There is much to learn about Alzheimer’s in Down syndrome, and we’re hopeful that these new projects will provide some answers,” said Melissa Parisi, MD, PhD, chief of the NICHD Intellectual and Developmental Disabilities branch. “One mystery we hope to solve is whether or not the disease progresses at a faster rate in this group.”

The National Institute on Aging (NIA) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both part of NIH, are providing an estimated $37 million over 5 years to 2 collaborative teams of researchers who will pool data, standardize procedures, increase sample sizes, and analyze data, all of which will be made freely available to qualified researchers worldwide.

The researchers will conduct an array of tests on over 500 volunteers with Down Syndrome, including:

  • Positron emission tomography (PET) to track amyloid, glucose, and brain volume and function;
  • Blood tests to identify proteins, lipids, and markers of inflammation;
  • Cognitive and memory tests;
  • PET scans to detect levels of tau — a first in people with Down Syndrome


  1. NIH Press Release