Dissecting the mechanisms driving autoimmunity in people with Down syndrome

People with Down syndrome show highly increased risk of autoimmunity, up to 100-fold higher! These include autoimmune diseases of great impact in the non-DS population, such as Hashimoto’s thyroiditis, type 1 diabetes (4.5x increased risk), celiac disease, psoriasis, alopecia and many others.

We recently showed that the immune architecture of people with Down syndrome is remodeled into a pro-autoimmunity state, even in the absence of any clinical autoimmune disease! We are working to understand the mechanisms that drive this autoimmunity-poised state, with the goal of identifying ways to prevent onset of autoimmunity in people with and without Down syndrome. We are also working to dissect similarities and differences between the cellular and molecular drivers of autoimmunity in people with and without Down syndrome.

Khor Research Project Inline - Autoimmunity in DS (Fold Change)

This would highlight how to achieve precision therapy of autoimmunity in people with, and ultimately without, Down syndrome. This work is in close collaboration with Dr. Rebecca Partridge and the regional Down syndrome community. Learn more about our Down syndrome biorepository.

Khor Research Project Inline - Autoimmunity in DS (B cells, TH1, TH17/1)