Down Syndrome Core

Ira Lott, MD, Professor Emeritus, Pediatrics and Neurology

Since its inception, the UCI Alzheimer’s Disease Research Center (ADRC) has included people with Down syndrome as a central focus of clinical research. Because of the triplication of the amyloid precursor protein (APP) gene on chromosome 21, individuals with Down syndrome accumulate amyloid in the brain over the lifespan.

This places people with Down syndrome at substantially increased risk for early-onset dementia. Yet, the age of symptom onset is variable and there is need for increased understanding of the temporal sequence of events in the AD pathogenesis as well as factors that precipitate dementia and protect against it.

The launch of an independent Down Syndrome Core at the UCI ADRC in 2020, led by Dr. Ira Lott, is an exciting development that will increase opportunities for studying the link between Down syndrome and AD. The Core aims to expand the population of participants enrolled in the UCI Down Syndrome Program, including participants as young as 18 years of age, to increase understanding of the earliest possible stages of disease. The Core will also facilitate Down syndrome research at multiple sites across the country, including clinical trials.