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Approved Research

Genome-wide Scan of Recessive Gene-Based Effects for Chronic Inflammatory and Metabolic Diseases

Principal Investigator: Professor Steven Schrodi
Approved Research ID: 93102
Approval date: January 12th 2023

Lay summary

The goal of this work is to apply a new method to identify genes significantly associated with the risk of Type 2 Diabetes, Hypertension, Ankylosing Spondylitis, Seropositive Rheumatoid Arthritis, Multiple Sclerosis, and Systemic Lupus Erythematosus. These diseases severely impact the health and wellbeing of millions of individuals worldwide. This method is likely able to identify new genes not previously associated with these diseases, thus increasing our understanding of why certain individuals are at elevated risk. Previous research has found a substantial inherited component of these diseases, however much of this inherited risk remains unexplained by the current set of identified disease genes. The approach used in this study has been successfully applied in a pilot study on iron overload disorder, which has demonstrated a new mechanism impacting iron metabolism. This study is well-positioned to identify key genes harboring disease-predisposing effects. By doing so, new targets for therapeutic intervention may be discovered. Further, such results will enable more accurate risk prediction which can identify individuals at elevated disease risk, thereby paving a path for early treatment to avoid serious complications.