Using genetics and genomics to diagnose, understand and better treat disease
Consistent with our mission to use genetics and genomics to understand the mechanisms of disease and inform novel intervention strategies, our research has a broad focus that spans the full spectrum of single gene inherited forms of disease, such as cystic fibrosis, to common causes of ill health in adulthood that also have a genetic component, such as bone and joint disease.
Our research is broadly grouped within three research sections:
Genetic analysis of complex traits and monogenic diseases in humans, utilising state-of-the-art sequencing technologies and computational analyses, such as whole genome and epigenome data and information to predict, diagnose and treat human disease.
Section Head: Professor Tim Aitman
Population genetics with a focus is on 'complex’ disorders of the brain, gene mutations that directly cause medical conditions such as ciliopathies, and novel gene therapies for Cystic Fibrosis.
Section Head: Professor David Porteous
Rheumatology & Bone Disease
Conducting basic, translational and clinical studies to gain greater understanding of the mechanisms that cause bone and joint diseases and apply this knowledge in clinical practice to benefit patients through new diagnostics and new treatments.
Section Head: Professor Stuart Ralston