Exploring Disease Connections

Down Syndrome Population Research

BRI scientists received a one-year grant from the National Institutes of Health to build one of the first-ever biorepositories to explore the connection between autoimmune disease and Down syndrome (DS). The research aims to understand why individuals with DS have increased autoimmunity at the cellular level. To undertake this research, BRI began actively recruiting volunteers with and without autoimmune diseases from among the DS community, families and friends.

image description BRI scientist Bernard Khor, MD, PhD (left) and Rebecca Partridge, MD, director, Virginia Mason Down Syndrome Program.

This project is a robust collaboration between Rebecca Partridge, MD, director, Virginia Mason Down Syndrome Program, a pediatrician and mom of a son with Down syndrome; and BRI scientist Bernard Khor, MD, PhD.

People with DS have been underrepresented in medical research, especially considering nearly 50 percent of this population have at least one autoimmune disease, among other immune system related 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.

By applying knowledge of the immune system to the DS population, BRI hopes to determine 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.

Individuals with DS have up to a 100-fold increased risk of developing an autoimmune disease, particularly type 1 diabetes, thyroid and celiac diseases. However, due in large part to a lack of research funding, we have limited understanding of why this is the case. With the grant, BRI hopes to apply tools developed to study autoimmune and allergic diseases, and ultimately discover new ways to support long, healthy, productive lives of people with DS.

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