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Shooting from the hip: tracing the genetics of osteoarthritis

Ben Faber Clinical Primer

Dr Benjamin Faber

17 January 2018

You’re more likely to get osteoarthritis of the hip if your parents have had it, and certain hip shapes can increase the risk. So could changes in hip shape associated with hip osteoarthritis be inherited?

This was the question asked by Dr Benjamin Faber in his proposal for funding under the EBI Clinical Primer scheme. Dr Faber, a medical trainee, wanted to pursue a career as a clinical academic in his chosen specialty of rheumatology. Winning the grant enabled him to spend six months working at the University of Bristol’s Musculoskeletal Research Unit. 

Osteoarthritis – which damages the surfaces in joints – affects at least 8 million people in the UK. Dr Faber wanted to understand more about the genetic determinants of osteoarthritis in relation to hip shape. He reviewed the literature on the genetics of hip osteoarthritis and compiled a list of common genetic variations (known as single nucleotide polymorphisms) associated with the disease. 

He looked at the hip shape of 4,000 women in the Bristol area, using computer software to model hip shape variation. He then examined the women’s genes to see if any related to these hip shape variations. His findings confirmed this possibility, but more detailed conclusions required further research. 

Dr Faber used his data to look at the relationship between weight and hip shape, and he found some strong relationships between the two. This led to a research collaboration with Professor Eric Orwoll at Oregon Health and Science University (OHSU) in the US, where Dr Faber worked for five weeks at the end of his Clinical Primer replicating this analysis on a large cohort population. His study revealed more links between weight and hip shape, as well as between certain hip shapes and hip osteoarthritis. 

Findings from this research were published (with Dr Faber as leading author) in Osteoarthritis and Cartilage, the journal of the Osteoarthritis Research Society International. He also presented his work at the 2016 Osteoarthritis Research Society International conference in Amsterdam and delivered oral presentations at the Bone Research Society Conference in 2016 and 2017. 

Dr Faber has since been awarded a National Institute for Health Research academic clinical fellowship at Bristol’s Musculoskeletal Research Unit to look at hip shape, its aetiology and its consequences, working under Professor Jonathan Tobias. This includes a registrar training post in rheumatology at North Bristol NHS Trust and an honorary research fellow post at the University of Bristol. 

Dr Faber was recently awarded a £240,000 MRC Clinical Research Training Fellowship for a PhD at University of Bristol with Professor Tobias and Professor Davey Smith, titled: ‘Use of Mendelian randomisation to examine the role of abnormal hip shape in the development of hip osteoarthritis’. He is due to start in September 2019. 

Dr Faber said: "The EBI Clinical Primer has been hugely beneficial to me. I learnt many skills, including basic epidemiology research techniques, applied statistics and wet lab techniques. I also gained great first-hand experience of the collaborative and multidisciplinary nature of research."

His Fellowship directly leads on from preliminary work undertaken during the EBI Clinical Primer award. Of this he says: “I couldn’t have got it without the initial research placement offered by the EBI.” 


Further information

Read more about Dr Faber’s research on the Bristol Medical School website.

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