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.
Osteoarthritis (OA) is a common disease involving loss of normal joint function. It is painful, debilitating and impacts not only on the quality of life but also on the length of life (http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis.aspx).
The form of the disease that we mostly work on is the one that arises without an obvious cause, such as in the absence of a clear injury. This form of OA, known as primary OA, affects older people.
A number of epidemiological studies have demonstrated that OA has a large genetic component.
Through the application of powerful genome-wide association scans involving tens of thousands of OA patients we have identified a 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/
Within CIMA I am the lead for work package 1, which is directed toward the integration of research programmes in molecular and cellular mechanisms. I co-supervise two CIMA funded PhD students, one based in Liverpool (Luke Tregilgas) and the other in Sheffield (Amy Easthope).
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://www.d-board.eu/dboard/index.aspx). D-BOARD also runs until 2017.
Within D-BOARD I am the lead for work package 3, which is directed to the use of genomics, epigenomics and transcriptomics for OA biomarker development.
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 major 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.