Rare diseases are overall relatively common, with ~1 in 17 individuals being affected at some point throughout their lifetime. Most rare diseases have been shown to arise from mutant variants in specific genes. For the most common rare diseases, the function of these genes and how these genes interact with other genes has been understood, and this has on some occasions led to treatments for the corresponding disorders. For most rare diseases, however, no such treatments are available. By accessing the data held at UK Biobank, we aim to identify natural genetic variants that do not affect the health of healthy individuals but that alleviate symptoms caused by the inactivation of genes connected to rare genetic diseases arising from the inability to safeguard the genome. We hope this knowledge will lead to the development of drugs or other therapeutic strategies for some of these diseases.
