How Studying Down Syndrome May Help Alzheimer’s Research

Researchers have shared complex biological data through the AD Knowledge Portal to advance studies of Alzheimer’s disease (AD) since 2015. Much of the data profiles the 5 million Americans age 65 and older living with the neurodegenerative disease, but a new dataset features a unique cohort. 

Joseph H. Lee, Lam-Ha Dang, and colleagues from the Columbia University Irving Medical Center recently contributed data from a large cohort of adults with Down Syndrome (DS). These data are a culmination of two decades of work by scientists at Columbia University and New York State Institute for Basic Research (See “Additional Information”).

Joseph H. Lee

Adults with DS are more likely to develop Alzheimer’s disease (AD) and often show symptoms by their late 40s or early 50s. Despite this increased risk, some adults with DS remain cognitively healthy until much later, and others do not develop AD at all. Lee and Dang are working to understand what biological factors or mechanisms protect some of those adults, helping to postpone or evade cognitive decline.

The Multiomic Studies of Alzheimer’s Disease in Adults with Down Syndrome (omicsADDS) study includes several different data types from 472 adults with DS, analyzing DNA, proteins, and other molecules in their blood.

“This study adds an extra dimension to our understanding of the complex biology of AD,” Lee said.

The high prevalence of AD in people with DS is primarily explained by the extra copy of chromosome 21. This chromosome includes a gene called APP, which has been linked to AD. Even in the presence of this risk, however, some adults with DS manage to escape dementia. Understanding the biology of how this occurs may help to identify new ways to delay or prevent AD.

Funded by the National Institute on Aging, the study is part of the Resilience-AD program working to understand cognitive resilience in high-risk cohorts. Other research in this program provides data from stem cells and mouse models. Together, the projects explore a collection of rare individuals who resist AD despite having high genetic risk.

Lee and colleagues availed their data to the scientific community in part to encourage collaboration. Data sharing is an integral part of team science, and the omicsADDS study exemplifies that effort. 

“There are investigators out there with different expertise, and maybe they can leverage the data in a different way,” said Dang. “And, to be honest, it’s fun to work with a lot of data, purely nerdy fun.”