Down Syndrome Biorepository

Principal Investigators

Rebecca Partridge, MD
Down Sydrome Program
Virginia Mason

Bernard Khor, MD, PhD
Translational Research Program
Benaroya Research Institute

Jane Buckner, MD
Translational Research Program
Benaroya Research Institute

What is the Down Syndrome Biorepository?

The Down Syndrome Biorepository is a confidential list of people with Down syndrome, with and without autoimmune diseases, who are willing to donate a blood sample and provide health information for scientific research.

People with Down syndrome have a significantly increased risk of getting autoimmune disease. BRI scientists are using donated blood samples and personal and family health information from people with Down syndrome to better understand the relationship between Down syndrome and autoimmune disease. Samples and information from individuals with Down syndrome, both with and without autoimmune disease, and their family members, are invaluable to this work. The main goal of this research is to identify new and better therapeutic targets to prevent and treat autoimmune diseases in people with Down syndrome, as well as in the general population.

All of the information gathered is kept confidential, and samples and health information used by scientists are coded with a number, not your name.

What are BRI scientists studying?

Patients with Down syndrome have a 4 to100-fold greater chance of getting autoimmune diseases. BRI researchers are using blood samples and medical histories from people with Down syndrome in order to learn why individuals with Down syndrome have a higher risk of developing autoimmune diseases. 

Researchers will build a longitudinal biorepository that tracks patients over time to determine key factors in their autoimmunity development and identify new treatments that will alleviate autoimmune disease development and progression for these patients. 

Who can participate?

We are currently enrolling individuals with Down syndrome who do and do not have autoimmune diseases. We are currently enrolling people with Down syndrome who have:

  • type 1 diabetes
  • celiac disease
  • no autoimmune diseases

We will begin recruiting Down syndrome patients with other autoimmune diseases in the coming months. 

We are also enrolling family members of patients with Down syndrome. Those without an autoimmune disease are eligible for the Healthy Volunteer Registry & Biorepository, and those with an autoimmune disease may be eligible for one of our other registries. To learn more, please visit Biorepositories

How can I help?

You can help scientists move autoimmune research forward by donating a blood sample and answering some questions about your personal and family health history.

You can also help by encouraging family members and friends without Down syndrome or autoimmune diseases to sign up to donate to our Biorepository.