UC Irvine researchers Vivek Swarup, Ph.D., and Elizabeth Head, Ph.D., have received a major new award from the National Institutes of Health to investigate a striking connection between Down syndrome and Alzheimer’s disease — research that could ultimately improve our understanding of Alzheimer’s for everyone.
The award, funded by the National Institute on Aging through the NIH INCLUDE Project for Down syndrome research, provides approximately $6.1 million for the project’s first three years, with an additional $4 million anticipated for years four and five. Altogether, the project is expected to receive approximately $10 million.
At the heart of the research is an urgent question: Why do the brain changes associated with Alzheimer’s appear so early in people with Down syndrome, and what can those changes teach us about preventing or treating the disease more broadly?
Nearly all people with Down syndrome develop the hallmark brain changes associated with Alzheimer’s by age 40, making Down syndrome the most common genetic cause of the disease. Yet people with Down syndrome have historically been excluded from Alzheimer’s research and clinical trials.
Addressing this challenge is important in its own right. Roughly 200,000 people in the United States have Down syndrome, and about one in five is clinically diagnosed with Alzheimer’s disease. But studying this connection also presents an exciting opportunity to better understand a disease that affects millions of individuals and families beyond the Down syndrome community.
Because Alzheimer’s-related changes tend to emerge along a more predictable, age-linked timeline in people with Down syndrome, researchers have an opportunity to examine some of the disease’s earliest biological changes. Understanding what happens during those early stages could help scientists identify new warning signs and potential targets for prevention or treatment before extensive damage has occurred.
Swarup, professor in the Department of Neurobiology & Behavior and Department of Systems Biology at the UC Irvine Charlie Dunlop School of Biological Sciences, and Head, professor in the Department of Pathology & Laboratory Medicine and Department of Neurology at the UC Irvine School of Medicine, will serve as co-principal investigators. Both also serve as faculty at the UC Irvine Institute for Memory Impairments and Neurological Disorders (UCI MIND) and in the Center for Aging Research – Down syndrome (CFAR-DS).
The team will study three brain regions from more than 90 donated brains, creating one of the largest and most detailed maps of the aging Down syndrome brain assembled to date. Using powerful technologies that allow researchers to see what is happening within individual cells while also preserving their location within the brain, the scientists will investigate several processes that may contribute to dementia. These include harmful changes in the brain’s immune response, deterioration of the “wiring” that helps different parts of the brain communicate and the loss of connections between brain cells.
Researchers will also compare these findings with brain tissue from typical aging and late-onset Alzheimer’s disease. By identifying where these conditions overlap — and where they differ — the project could reveal which changes are especially important in driving Alzheimer’s, and which may offer the most promising opportunities for intervention.
The project builds upon UC Irvine’s extensive strengths in aging, Alzheimer’s disease and Down syndrome research while drawing on major national research efforts, including the NIH Alzheimer Biomarker Consortium-Down Syndrome and resources from the UCI Alzheimer’s Disease Research Center.
Its impact could extend well beyond the researchers directly involved. All data generated through the project will be made publicly available, giving scientists around the world an opportunity to explore the findings, pursue new questions and accelerate discoveries that might otherwise take years to emerge.
That commitment to sharing knowledge is especially significant for a disease as complex as Alzheimer’s. No single laboratory or scientific discipline is likely to solve it alone. Progress depends on researchers bringing together different areas of expertise, sharing resources and approaching the disease from multiple perspectives.
The new NIH award embodies that collaborative approach, uniting expertise across the Charlie Dunlop School of Biological Sciences, the School of Medicine, UCI MIND and CFAR-DS around a challenge with profound implications for individuals and families. By working to better understand Alzheimer’s in a community that has too often been overlooked, Swarup, Head and their colleagues have an opportunity to advance knowledge that could benefit people with Down syndrome while opening new avenues for Alzheimer’s research more broadly.
The project is a powerful example of UC Irvine’s interdisciplinary research strength in action: scientists working across traditional boundaries, sharing discoveries with the wider research community and pursuing knowledge that has the potential to make life healthier and better for people everywhere.