I did my PhD in developmental biology at Leeds University and subsequently carried out postdoctoral studies with Professor Bryan Sykes at the Institute of Molecular Medicine at Oxford University. These involved a molecular genetic analysis of monogenic and polygenic diseases of the musculoskeletal system. I subsequently obtained a fellowship from the Arthritis Research Campaign and established a group at the Wellcome Trust Centre for Human Genetics. At that point my focus became the genetic analysis of osteoarthritis (OA) and in 2008 I moved to Newcastle as Professor of Musculoskeletal Research.
I am a member of the following professional societies:
My groups principal research focus is identifying and then characterising those genes that confer risk towards the development and progression of osteoarthritis (OA).
Through the application of powerful genome-wide association scans involving tens of thousands of OA patients we have identified a large number genes harbouring susceptibility alleles for OA, including the genes CHST11, GDF5, DIO2 and HBP1.
Our efforts are directed toward comprehensive functional analysis of the associated variants within these genes, and in others that are emerging from ongoing scans.
In addition to my OA research I am also one of the lead investigators for CIMA - the MRC-Arthritis Research UK Centre for Integrated Research into Musculoskeletal Ageing. This is a collaboration between the Universities of Liverpool, Newcastle and Sheffield. CIMA runs until 2017 and further details can be found at the CIMA website - www.cimauk.org/
I am also one of the lead investigators for D-BOARD, a European Union FP7-funded 5-year collaborative project directed toward OA biomarker development (http://ec.europa.eu/research/health/medical-research/severe-chronic-diseases/projects/d-board_en.html). D-BOARD also runs until 2017.
Many of the loci that my group investigate harbour polymorphisms that influence gene expression and this has stimulated our study of the tissue-specific effects of cis polymorphism on allelic expression imbalance.
The technical expertise that my group employs includes:
My groups main effort for the next several years will be to carry out detailed functional studies of the loci identified such that we can understand clearly how the associated variants influence disease risk. This information will then be applied to develop improved diagnostic and prognostic tools and to facilitate the development of new intervention strategies, including novel therapeutics.
I have considerable experience of postgraduate supervision and encourage undergraduates who have a keen interest in genetics and the functional analysis of disease loci to get in touch.
The Osteoarthritis Research Society International (OARSI, http://www.oarsi.org/) is the principal international OA research society and within it I perform a number of roles:
Other esteem indicators unrelated to OARSI include:
I have been the principal investigator (PI) for 25 grants and the co-investigator (CI) for an additional 9, with a total grant income of £15 million.
I am currently the PI for 6 grants and the CI for 4 grants.
These 10 grants come from the MRC, Arthritis Research UK, the European Union, the Nuffield Foundation, the JGW Patterson Foundation and the William Harker Foundation.