About the research group
What we do
Medical Genetics represents an integrated and multidisciplinary grouping of clinical and basic scientists. The group's overarching aim is to identify the genetic basis of both single gene and complex disorders. This includes studying the normal role of the genes and proteins that have been identified as well as understanding the functional consequences of pathogenic genetic variants. Importantly, we aim to translate this research knowledge into healthcare benefits including improved diagnosis and management as well as ultimately into new treatment methods for the conditions investigated.