New NIH grant enables critical research into causes of autoimmune disease in people with Down syndrome

Scientists at the Benaroya Research Institute at Virginia Mason (BRI) were recently awarded a one-year grant from the National Institutes of Health to build a Down syndrome (DS) biorepository to research the connection between autoimmune disease and DS.

The BRI biorepository, or biobank, is a collection of blood, serum and tissue samples, as well as medical histories, from volunteers with and without autoimmune and immune system diseases. The NIH grant will help fund a dedicated biorepository for people with DS with and without autoimmune diseases, who are willing to donate a blood sample and provide health information for scientific research. The DS population has been underrepresented in medical research, especially considering nearly 50 percent of this population have an autoimmune disease (AID), among other immune system diseases.

“Individuals with DS have up to a 100-fold increased risk of developing an autoimmune disease, particularly type 1 diabetes, thyroid and celiac diseases,” explained Jane Buckner, MD, president of BRI and principal investigator for this grant. “Due in large part to a lack of research, our understanding of why people with DS are so prone to autoimmunity is limited. However, BRI hopes to change this with the support of the new trans-NIH INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE).”

“BRI is among the first to be awarded this type of grant dedicated to the DS population and autoimmune disease, and we will apply the tools that we have developed to study autoimmune and allergic diseases in the general population to Down syndrome,” Dr. Buckner added. “We are proud to have such a central role in this research.”

DS is a chromosomal condition associated with intellectual and physical challenges occurring in approximately 400,000 children and adults across the United States. As a leader in autoimmune disease research, BRI will apply its depth and breadth of knowledge about the immune system to the DS population to better understand why people with DS are more susceptible to autoimmune diseases and develop more treatment options, with the ultimate goal of discovering ways to prevent autoimmune disease from occurring.

The research aims to understand why individuals with DS have increased autoimmunity at the cellular mechanism level, which will benefit both people with and without DS living with autoimmune disease. To do this, BRI will:

• Build a DS registry and repository with the goal of sharing samples across the scientific communities studying DS.
• Actively recruit volunteers with and without autoimmune diseases from the DS community and their families and friends.
• Establish a relationship with DS-Connect® patient registry that will assist in including DS in clinical trials.

“As both the director of the Virginia Mason Down Syndrome Program and the mom of a son with Down syndrome, I have experienced firsthand the unrelenting challenges of chronic diseases like type 1 diabetes, thyroid or celiac diseases in individuals living with DS,” said Rebecca Partridge, MD, a Virginia Mason pediatrician and co-investigator on this grant and the principal investigator of the BRI Down Syndrome Registry and Biorepository. “Despite being the most common chromosomal condition, Down syndrome until now has received the least research funding. This is an exciting time for individuals with Down syndrome and the people who love them as we discover innovative ways to support their long, healthy, productive lives.”

This research will be conducted out of the laboratory of Bernard Khor, MD, PhD, co-investigator of the Down Syndrome Registry and Biorepository. 

For more information or to consider volunteering for this study, please visit the Benaroya Research biorepository website or visit the homepage for the Down syndrome biorepository.