Core H: Down Syndrome Core

University Of California-Irvine, Irvine CA

Investigators

Linked publications & trials

Abstract

PROJECT SUMMARY - DOWN SYNDROME CORE (CORE H) Since the inception of the UC Irvine Alzheimer Disease Research Center (ADRC) we have included people with Down syndrome (DS) as a central focus of our research mission. In 2020, the ADRC established a dedicated Core to support this research. Because of the triplication of the APP gene on chromosome 21, people with DS accumulate amyloid in the brain over the lifespan, placing them at substantially increased risk for dementia. As the largest population of genetic Alzheimer disease (AD), research in this group can provide insights into the earliest events associated with AD pathogenesis. Yet, people with DS have been largely left out of AD/ADRD research and excluded from AD clinical trials. Specifically, little is known about how race/ethnicity and social determinants of health impact age of onset of dementia and later life changes in disease-associated outcomes. In the next cycle, the DS Core will collaborate with other ADRC Cores to enhance diversity in our recruitment, engage in recruitment science, and pilot novel outcomes for the DS Core. We will follow a longitudinal cohort including 50 people with DS, aged 18 to 70 years, annually assessing clinical and cognitive outcomes as well as biomarkers (neuroimaging and fluids), and inviting participation in brain donation. As an incubator for novel hypotheses, the UCI ADRC DS Core can inform larger ongoing studies. Finally, we will continue to educate investigators at UCI and beyond on the importance and methods of research in this key inadequately represented population.