Genomics of Inherited Diseases of the Immune System

what we do for this study

The goal of this study is to to conduct high-impact immunology research with direct relevance to human health. This research provides insight into the mechanisms that cause disease in patients with rare immune disorders, oftentimes inherited. To begin, we sequence the DNA of affected patients and their immediate family in order to uncover potential single gene mutations responsible for disease. 

If we discover a mutation of a known disease gene, this information allows improvements in personalized medical care through our clinical colleagues.

When we identify compelling gene mutations that are novel, or new, we design in-depth molecular, cellular, and disease modeling approaches to rigorously demonstrate how the gene mutation can cause disease and the effects the mutation has on cells of the immune system in hopes of improving patient care. 

You are invited to take part in this study to help uncover some of these possible gene mutations responsible for inherited immune diseases.

why we Started this study

The pursuit of scientific knowledge in biology takes many forms. For us, the most rewarding and impactful science starts with people, mostly children, who suffer from severe immune disorders and ends with new insights to improve their quality of life. 

Silmultaneously, we are also advancing our understanding of fundamental immune processes. This goal drives us to integrate clinical, genetic, cellular, and molecular findings, to model disease, and to ask new experimental questions that could not have been asked without observations from those who participate in this study. 

We devote ourselves to helping individual patients and families while maximizing impact of their generous participation in our study through the application of lessons learned to other immune-related diseases and therapies.

The Process of the Research