MA, MB, BS, FRCP
Professor of Rheumatology
- Honorary Consultant Rheumatologist
I run a busy general rheumatology practice with specialist clinics in Marfan syndrome, Ehlers-Danlos syndrome, skeletal dysplasias and other rare monogenic diseases of the musculoskeletal system.
I run a weekly multi-disciplinary inflammatory connective tissue disease clinic for patients with multisystem autoimmune disorders, such as systemic lupus erythematosus and related diseases.
We also run by-monthly multi-disciplinary clinics for patients with X-linked hypophosphataemia and scleroderma.
For ten years between 2000 and 2010 I ran the Clinical Trials Unit for inflammatory joint disease at the Nuffield Orthopaedic Centre. I continue to run a fortnightly special interest clinic in spondyloarthropathies and am a medical advisor to the National Ankylosing Spondylitis Society, Haemochromatosis Society, FOP Friends and Marfan Association.
I have been the UK clinical lead for the Clinician Connect programme mentoring consultants and trainees in the expert management of spondyloarthropathies for a number of years.
I have published more than 500 papers on a broad range of rheumatology topics but have particularly concentrated on the genetic basis of rare monogenic diseases and common polygenic disorders.
I helped to design the 2010 up-dated Brussels nosology for Marfan syndrome and have co-authored a major textbook on bone diseases with my colleague, Dr Roger Smith, “Clinical and Biochemical Disorders of the Skeleton” published by Oxford University Press in 2005 (now in its second edition, 2015).
Over the last 25 years my group has pioneered research into the polygenic nature of various forms of inflammatory arthritis, particularly rheumatoid arthritis and ankylosing spondylitis.
We introduced affected sib pair analysis initially in the investigation of rheumatoid arthritis during the 1990s, and subsequently ankylosing spondylitis; we published the first genome-wide linkage screens in these conditions some 15 years ago.
Thereafter we have concentrated on genome-wide association studies in ankylosing spondylitis in close collaboration with my long-term colleague Professor Matthew Brown (initially Research Fellow in my department and now Professor of Immunogenetics at the University of Queensland).
We published the first association study in ankylosing spondylitis in 2007, highlighting that AS was a polygenic disease, and identifying for the first time the strong association with ERAP1 (Endoplasmic Reticulum Associated endoPeptidase-1).
In subsequent studies we have also highlighted the importance of several genes in the IL23 pathway, the ANTXR2 locus and the RUNX3 locus in AS. Our current aim is to translate these findings into a more mechanistic understanding of the processes underlying these genetic associations. In particular, we have investigated the influence of AS-associated single nucleotide polymorphisms on the binding of transcription factors and the downstream influence that this has on gene expression.
I am NIHR national lead for rare bone diseases and pursue clinical and research interests into the basic causes and effects of genetic mutations on the skeleton and associated connective tissues.
- British Association of Rheumatology and Rehabilitation 1983 - "Metabolic bone disease in rheumatoid arthritis"
- British Society of Rheumatology Michael Mason Prize 1992 - "The new genetics and rheumatology".
- British Society of Rheumatology Heberden medal 2012 - "Genetics and rheumatology: lessons from extreme phenotypes and subtle genotypes".
- Appointed Clinical Reader in Rheumatology, University of Oxford 1992
- Ad-Hominen Professorship of Clinical Rheumatology 1998
- Governing Body Fellow of Green Templeton College since 1992 (Academic Tutor 1994-1997; Senior Tutor 1997-2000; Dean 2013-2015)
- Honorary Consultant Rheumatologist to the Oxford University Hospitals since 1987.
- Trained in Rheumatology at the Middlesex Hospital, London and in Oxford (Clinical Research Fellow Nuffield Departments of Orthopaedics and Pathology 1983-1985 and Senior Research Fellow in the Nuffield Department of Clinical Medicine 1987-1992).
Kochan G. et al, (2011), Proc natl acad sci u s a, 108, 7745 - 7750
International Genetics of Ankylosing Spondylitis Consortium (IGAS) None. et al, (2013), Nat genet, 45, 730 - 738
Karaderi T. et al, (2009), Rheumatology (oxford), 48, 386 - 389
Wordsworth P. and Chan M., (2019), Calcif tissue int, 104, 530 - 543
Watts L. et al, (2019), Genes immun, 20, 167 - 171
OP0231?Differential transcription factor binding could explain the genetic association of ankylosing spondylitis with polymorphisms in the IL23R-IL12RB2 intergenic region
(2018), Annals of the rheumatic diseases
THU0364?Rare ERAP1 allotype combinations do not explain the ERAP1 association with ankylosing spondylitis
(2018), Annals of the rheumatic diseases
Ntusi NAB. et al, (2018), Int j cardiol, 270, 253 - 259