Benaroya Research Institute (BRI)

Visit Website


The Down syndrome registry at Benaroya Research Institute (BRI) collects and analyzes biological samples and other data from people with Down syndrome throughout their entire lives. The goal is to help advance medical care to predict, prevent and cure co-occurring conditions of Down syndrome.

Principal Investigators

Bernard Khor Rebecca PartridgeCate Speake


At Benaroya Research Institute (BRI), a multidisciplinary team of immunologists, clinicians and computational biologists collaborates to understand mechanisms that predispose people with Down syndrome to specific co-occurring conditions. A key focus is to understand why immune responses are dysregulated, leading to susceptibility to infections, impaired response to vaccines and increased incidence of autoimmunity. Our goal is to help develop therapeutic approaches to minimize the impact of these conditions.

The Down syndrome program at Virginia Mason Franciscan Health (VMFH), led by Dr. Rebecca Partridge, represents a novel paradigm for clinical care for people with DS. Established in 2013, this primary-care based program provides care and counseling for patients of all ages and stages, from prenatal counseling to end of life care. In addition to providing tertiary-level primary care, this setup also lends itself to unique research opportunities.

Using samples donated by people with and without DS, autoimmune and immune system diseases, BRI researchers compare similarities and differences at the cellular and genetic level. They can identify biomarkers with distinct cell characteristics that are associated with the progression of disease. Through its Immune Mediated Diseases Biorepository, BRI collects and stores biological samples donated by volunteers, collaborating regionally and internationally with other institutes to advance our understanding of how and why diseases develop. From there, our scientists learn how genetic risk factors influence the immune system to cause disease and identify targets for new therapies.

Our collaborative multiomic approach has already demonstrated novel overlap in immune dysregulation in the contexts of Down syndrome, aging and autoimmunity.We are creating a map to help researchers and physicians understand how the immune system is altered in people with Down syndrome, laying foundations for the restoration of immune health.