Using UK Biobank participants as control subjects in genetic studies of Mendelian and complex diseases
Principal Investigator: Professor Heather Cordell
Approved Research ID: 61576
Approval date: June 1st 2020
The aim of this project is to identify genetic factors that predispose individuals to develop a variety of Mendelian and complex disorders, including (but not limited to) autoimmune liver disease, alcoholic and non-alcoholic liver disease, kidney disease, heart disease, diabetes, cardiac malformations, epilepsy and infectious diseases. To investigate this, we will compare the genetic make-up of diseased individuals ('cases'), collected as part of our own research studies or through collaboration, with the genetic make-up of the UK Biobank participants ('controls'), the majority of whom will not have the disease of interest. The project will be ongoing, as we continue to collect diseased individuals in order to increase the size of our 'case' cohorts. By identifying genetic factors associated with the development or progression of a variety of different diseases, we hope to further our understanding of the biological mechanisms underpinning these diseases, and thus, ultimately, to use this improved knowledge to develop potential treatment strategies and cures.