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Approved Research

Improved diagnosis of rare diseases using shared common disease genetic architectures

Principal Investigator: Professor Craig Smail
Approved Research ID: 70301
Approval date: May 5th 2021

Lay summary

Rare genetic variants are abundant in the human genome and can have large effects on individual risk for rare diseases. However, these variants are difficult to interpret and new approaches are required to provide genome-wide resolution of rare variant effects. We will develop and apply new methods integrating large-scale genomic, laboratory, and clinical data obtained from individuals with a range of common diseases with overlapping phenotypes in UK Biobank in order to study the impact of rare genetic variants on individual rare disease risk, increasing our understanding of the genetics of rare disease. Using UK Biobank data provides a unique opportunity to identify the genes involved in rare diseases, which gives important clues about where to look in a patients' DNA for genetic variants potentially causing these diseases.

The project will last 3-years, and we will provide annual progress updates. There are currently 6,800 known rare diseases and rates of diagnosis have stalled at ~40%. Our proposed research aims to increase this diagnosis rate, potentially benefitting thousands of patients with rare disease, their families, and the public health at large.