Dissecting the Mechanisms Driving Autoimmunity in People With Down Syndrome

People with Down syndrome face a strikingly higher risk of developing autoimmune disease — in some cases up to 100 times greater than in the general population. These conditions also affect millions of people without Down syndrome and include Hashimoto’s disease, type 1 diabetes, celiac disease, psoriasis and alopecia areata. The biological reasons for this increased vulnerability have remained largely unexplained.

Research in the Khor Lab is addressing this critical gap. Investigators have shown that the immune system in people with Down syndrome is fundamentally shaped in ways that favor autoimmunity — even in individuals who have not yet developed an autoimmune condition. This discovery suggests that the immune system may enter a high-risk state long before symptoms appear.

Building on this insight, researchers are working to uncover the cellular and molecular mechanisms that drive this immune imbalance. By understanding how and why the immune system becomes primed for autoimmunity, the team aims to identify opportunities for earlier intervention, with the long-term goal of preventing autoimmune disease before it starts. While this work is rooted in the biology of Down syndrome, its implications extend far beyond it.

A central focus of the Khor Lab is comparing the drivers of autoimmunity in people with and without Down syndrome. These comparisons provide a powerful lens into shared and distinct disease pathways, helping clarify which immune processes are universal and which are context specific. This approach advances the broader goal of precision medicine: tailoring prevention and treatment strategies to an individual’s biology rather than relying on one-size-fits-all solutions.

The Khor Lab works in close collaboration with Rebecca Partridge, MD, and in partnership with the regional Down syndrome community. Central to this effort is BRI’s growing Down Syndrome Biorepository, which supports rigorous, human-centered research while honoring the contributions of participants and families.

This research focus reflects BRI’s commitment to advancing science that is both innovative and grounded in real-world impact. By studying autoimmunity through the lens of Down syndrome, the Khor Lab seeks not only to improve health outcomes for this community, but also to generate insights that could transform how autoimmune diseases are understood, predicted and prevented for everyone.