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Tuesday, Dec 6, 2022

UCI Spearheads $109M Down Syndrome, Alzheimer’s Study

The University of California-Irvine is undertaking a five-year, multi-million dollar project to expand research on Alzheimer’s disease in people with Down syndrome. 

The National Institute of Health awarded a $109 million grant to the Alzheimer’s Biomarkers Consortium-Down Syndrome in late October. 

The international team, led by UCI principal investigators Elizabeth Head and Mark Mapstone, aims to identify biomarkers that indicate the progression of Alzheimer’s disease in adults with Down syndrome. 

Down syndrome is the most common neurodevelopmental disorder, affecting an estimated 250,000 individuals in the U.S., according to the Centers for Disease Control and Prevention. 

Uncovering biomarkers will influence clinical trials and accelerate new therapies that prevent and treat Alzheimer’s disease, said Head, professor and vice chair for research in the Department of Pathology & Laboratory Medicine at UCI. 

Chromosome 21

About 25% of people with Down syndrome have signs of Alzheimer’s disease, and risk increases with age, according to the National Down Syndrome Society. 

The link between people with Down syndrome and Alzheimer’s disease is thought to come from having three copies of chromosome 21, according to Mapstone, a professor in the Department of Neurology at UCI.

Chromosome 21 is where a gene that produces the protein amyloid is located. Patients are thought to overproduce amyloid, which is a key indicator of Alzheimer’s disease, he said. 

The research team will assess an assortment of factors such as biomarkers, genetic factors, and cognitive and physiological function in hundreds of patients, which will be seen every 16 months for up to four visits.


Both Down syndrome and Alzheimer’s disease are gaining support—and financial backing—at UCI. 

“It’s tremendously encouraging to see this kind of support for Alzheimer’s disease and Down syndrome research,” Michael Stamos, dean for the UCI School of Medicine, said in a statement. “The awareness is building on a national scale and is certainly reflected in the environment at UCI, where we recently approved a new Center for Down syndrome research that will get underway in the coming months.”

In addition, UCI MIND, the school’s institute for memory impairments and neurological disorders, was awarded a $14.4 million grant from the National Institutes of Health in August for research on dementia and Alzheimer’s disease. 

An estimated 6 million people live with Alzheimer’s disease, and it affects more than 80,000 local residents, according to UCI MIND.

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