Hereditary diseases relating to defects in cellular metabolism and in-born errors of metabolism are medical conditions that interfere with the body’s metabolism, they are caused by genetic defects inherited from both parents. In many cases there are few therapeutic options for patients with such genetic disorders. Our goal is to create medicines that can help these patients who have serious hereditary diseases and are out of options. With few therapeutic options the patient’s health and quality of life can be severely impacted.
To be able to develop novel drugs we first need to understand the nature and consequence of the hereditary defects that underpin these genetic disorders. Genetic association studies have revealed a remarkable range of discoveries improving our understanding of the underlying biology of inherited disease, revealing new biologic pathways that contribute to our understanding but also provide new avenues for treatment of patients. Access to large datasets such as UK Biobank can considerably improve the power of these studies.
With the help of the UK Biobank data we intend to use statistical modelling of diseases to identify susceptibility genes that will help construct better models of disease. The proposed work aims to identify common and rare genetic risk factors that predispose individuals to inherited genetic diseases. Knowledge gained from this work has the potential to contribute directly to the discovery of new therapeutic targets aimed at combating disease and offers the possibility of dramatically shortening the time for development of treatments that can enter into clinical testing. Without this information such efforts can often take more than 10 years.