Professor John Loughlin
Prof of Musculoskeletal Research


I'm a molecular and cell biologist with a background in genetics. I did my PhD in developmental biology at Leeds University and my postdoctoral studies with Professor Bryan Sykes at the Institute of Molecular Medicine at Oxford University. These involved a molecular genetic analysis of 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). In 2002 I was awarded a tenured lectureship at Oxford and in 2008 I moved to Newcastle as Professor of Musculoskeletal Research.

Roles and Responsibilities

  • Head of the Osteoarthritis Genetics Group, Institute of Cellular Medicine (ICM)
  • Mentor for early-stage independent investigators, ICM
  • President of OARSI, the principal international OA research society


  • 1999 MA University of Oxford
  • 1991 PhD Molecular and Developmental Biology, University of Leeds
  • 1987 BSc (Hon) Biochemistry, Liverpool John Moores University

Previous Positions

  • 2002-2007 University Lecturer in Musculoskeletal Sciences, University of Oxford
  • 1997-2002 Arthritis Research Campaign Fellow, University of Oxford
  • 1995-1997 Postdoctoral Scientist, Wellcome Trust Centre for Human Genetics, University of Oxford
  • 1991-1995 Postdoctoral Scientist, Institute of Molecular Medicine, University of Oxford


      I am a member of the following professional societies:

Research Interests

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 (

The form of the disease that we 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.

Our efforts are directed toward comprehensive functional analysis of the risk alleles within these genes and in others that are emerging from ongoing scans (

Group Members:

  • Dr Louise Reynard - research fellow
  • Dr Amanda Villalvilla-Garcia - postdoctoral scientist
  • Dr Michael Rushton - postdoctoral scientist
  • Dr Colin Shepherd - postdoctoral scientist
  • Dr Madhu Ratnayake - postdoctoral scientist
  • Dr David Almarza Gomez - postdoctoral scientist
  • Lucy Gentles - research technician
  • Maria Tselepi - research technician
  • Emma Rogers - PhD student
  • Kath Johnson - PhD student
  • Fabio D'Agostino - PhD student

Current Work

OA genetics and genome editing

I am the principal investigator for an Arthritis Research UK funded 5 year programme grant directed toward the characterisation of OA risk-conferring alleles and their manipulation using genome-editing technology. This grant runs from 2015-2020.


I am the Newcastle director for CIMA, which is 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 I lead work package 1, which is directed toward the integration of research programmes in molecular and cellular mechanisms.


I am also one of the core investigators for D-BOARD, a European Union FP7-funded 5-year collaborative project focussing on OA biomarkers ( D-BOARD also runs until 2017 and I lead work package 3, which is directed to the use of genomics, epigenomics and transcriptomics for novel OA biomarker development. Please click the following link for a video on D-BOARD.


I am a member of the Innovative Medicines Initiative (IMI) APPROACH study. This is a public-private partnership directed to OA biomarker development through the establishment of a heavily phenotyped and comprehensively analysed OA longitudinal cohort. APPROACH runs until 2020 and its funding derives from IMI, via the European Union, and from the commercial partners GSK, Merck Serono and Servier. I co-lead work package 1, which is directed toward patient stratification and analysis.

Many of the OA 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:

  • genetic association analysis by case-control methods
  • overall gene expression analysis using microarrays and RNAseq
  • gene expression analysis at the allelic level
  • in vitro studies of gene expression using luciferase reporter assays and EMSAs
  • analysis of cell-signalling pathways by protein expression studies and western analysis
  • identification and characterisation of trans-acting factors using ChIP
  • characterisation of cis and trans factors by RNA knockdown and overexpression 
  • targeted epigenetic analysis of CpG sites in candidate loci using cell lines and tissue from human donors
  • genome-wide epigenetic analysis using methylation arrays
  • investigation of gene and protein expression in transformed cells, primary cells and mesenchymal stem cells
  • the identification of novel mutations in Mendelian pedigrees by exome sequencing
  • the identification of rare polymorphisms in OA susceptibility loci by next generation sequencing
  • genome editing using the CRISPR/Cas9 system

Future Research

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. 

Postgraduate Supervision

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.

Esteem Indicators

The Osteoarthritis Research Society International (OARSI, is the major international OA research society and within it I perform a number of roles:

  • President (2015-2017)
  • President-elect (2013-2015)
  • Secretary General (2010-2013)
  • Member of the Board of Directors (2007-2019)
  • Chair of the Ethics Committee (2012-2014)
  • Program committee member and session chair, OARSI Congress 2012, 2013 and 2014
  • Moderator for the pre-congress workshop on "Genetics, genomics and functional analysis of OA susceptibility", OARSI Congress, Barcelona, 2012

Other esteem indicators:

  • Co-organiser and co-chair of the 1st Osteoarthritis Epigenetics Workshop (2015;
  • Advisor on Professorial appointments for Johns Hopkins University School of Medicine, USA, and Duke University Medical Center, USA (2014)
  • Member of the Fellowship Implementation Committee of Arthritis Research UK (2007-2013)
  • Chair and organiser of the second OA Biomarkers workshop, Atlanta, USA, 2010
  • Current member of the Editorial Boards of the journals Osteoarthritis & Cartilage and BMC Musculoskeletal Disorders
  • Expert reviewer for INSERM, France, and scientific advisor to the NIH, USA
  • Presented my groups research, and overviews of the research area, at international conferences in Europe, North America and Asia (over 40 oral presentations in the past 5 years) 


I have been the principal investigator (PI) for 26 grants and the co-investigator (CI) for an additional 11, with a total grant income of over £25 million.

I am currently the PI for six grants and the CI for four grants.

These ten grants come from the MRC, Arthritis Research UK, the European Union (FP7 and IMI) and the William Harker Foundation.

Undergraduate Teaching

  • Lecturer on the BSc Biomedical Sciences course (BMS3010) and on the BSc Biomedical Genetics course (BGM3061)
  • Supervisor for undergraduate laboratory projects
  • Supervisor for undergraduate vacation scholarships sponsored by the Wellcome Trust
  • Undergraduate project marker
  • MBBS marker
  • Supervisor for the Student Selected Component (SSC) of medical training
  • Tutor for Biomedical Scientists 

Postgraduate Teaching

  • Lecturer for the MRes course in Musculoskeletal Biology (MMB8002)
  • Lecturer for the MRes course on the Genetics of Common Diseases (MMB8014)
  • Supervisor for MRes laboratory projects