In this project, we plan to use genetic sequencing data from the UK Biobank to study rare diseases. We all carry many genetic changes that mostly do not cause diseases. Those changes that cause rare diseases are usually very rare.
Independent of the UK Biobank, we will have access to genetic sequencing data of patients with specific rare diseases, such as kidney diseases or high blood pressure at young age. We will look at specific genetic changes we find in these patients. We will check how often these specific changes occur in controls in the UK Biobank. If these changes are not present or very rare in controls from the UK Biobank, they are more likely to cause the disease than if they are found in many controls from the UK Biobank.
We will also try to find new disease genes. Specifically, we will look for genes that have more changes in our patients than in controls in the UK Biobank.
This project will continue over several years. For now, we apply for a rolling 3-year period. We hope that our research will contribute to the identification of new genes that cause diseases, such as kidney diseases or high blood pressure. We also hope our efforts will help to avoid unnecessary diagnostic procedures and find better therapies for patients with genetic diseases.
