Proteogenomics to identify sarcoidosis biomarkers and endotypes

Sarcoidosis is an inflammatory disease in which granulomas form in any part of the body, most often affecting the lungs and lymph nodes. The disease varies among patients in terms of onset, severity and prognosis.

A major obstacle in identifying causes of sarcoidosis is the inability to distinguish between different groups of patients.

Inflammatory biomarker levels in combination with genetics can be used to better characterize and treat patients.My goal is to identify subgroups of sarcoidosis patients using genetic and proteomic data and determine whether these are associated with sarcoidosis prognosis. I will achieve this goal by collecting proteogenomic data from several sources of cases and controls.

First, I will examine the relationship between genetics and inflammatory proteins in sarcoidosis patients.

Then I will investigate whether there are clusters of patients with similar characteristics (endotypes) using a data-driven approach.

To determine whether these subgroups are clinically meaningful, we will examine whether the risk of poor prognosis is different between the endotypes.The proposed project will be the first of its kind and will reveal important mechanisms of sarcoidosis pathogenesis.

The use of genetics and proteomics from pre-clinical and newly diagnosed patients will be used to set the foundation for developing non-invasive biomarkers for diagnosis and endotype-specific treatment of sarcoidosis.