Down Syndrome Core

Ira Lott, MD, Professor Emeritus, Pediatrics and Neurology

Elizabeth Head, MA, PhD, Dean’s Professor, Pathology & Laboratory Medicine 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, people 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. Indeed, people with Down syndrome represent the most common genetic cause of Alzheimer disease. Yet, the age of symptom onset is variable and there is need for increased understanding of the earliest changes heralding AD as well as factors that accelerate dementia and those that may provide protection.

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. In 2025, Dr. Elizabeth Head joined the DS Core as Co-leader with Dr. Lott. She has over 30 years of experience with research for people with Down syndrome from a neurobiological perspective. The Core aims to expand the population of participants enrolled in the Alzheimer Biomarker Consortium – Down syndrome or ABC-DS (https://abc-ds.org/), 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 and supports brain donation through the Neuropathology Core.