Institute of Genetic Medicine

Staff Profile

Professor John Loughlin

Prof of Musculoskeletal Research



I'm a molecular and cell biologist with a background in genetics. My first degree was in applied biochemistry at Liverpool John Moores University followed by a PhD in developmental biology at the University of Leeds. My postdoctoral studies were undertaken in the group of Professor Bryan Sykes at the Institute of Molecular Medicine at the University of Oxford. These involved a molecular genetic analysis of diseases of the musculoskeletal system.

I subsequently obtained a fellowship from the Arthritis Research Campaign (now known as Arthritis Research UK) 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.

Here is the link to my Google Scholar citations -

Roles and Responsibilities

  • Head of the Osteoarthritis Genetics Group (OAG), Institute of Genetic Medicine (IGM)
  • Principal Investigator (PI) within the Skeletal Research Group at the IGM
  • Past-president of OARSI, the principal international OA research society
  • Newcastle lead for CIMA, an MRC and Arthritis Research UK funded collaborative project
  • Newcastle lead for the Innovative Medicines Initiative (IMI) funded Approach study
  • Member of MA-PODS, a consortium developing an in vitro model of the OA joint


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

Previous Positions

  • 2002-2007 University Lecturer in Musculoskeletal Sciences (tenured post), 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 (OA).

We are known as the Osteoarthritis Genetics Group, or the OAG, and we are based at the Institute of Genetic Medicine.

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 of 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.

OAG group members

  • Dr Sarah Rice - postdoctoral scientist
  • Dr Colin Shepherd - postdoctoral scientist
  • Dr Ellie Parker - postdoctoral scientist
  • Antony Sorial - academic clinical fellow
  • Guillaume Aubourg - academic foundation fellow
  • Sami Anjum - academic foundation fellow
  • Maria Tselepi - research technician
  • Ioanna Pangou - research technician
  • Will Thompson - MRes/PhD student (third year)

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. The first CIMA award ran from 2012 to 2017 and I led work package 1, which was directed toward the integration of research programmes in molecular and cellular mechanisms. The second CIMA award runs from 2017 to 2022 and I lead Theme 1, which is focussing on epigenetics and the musculoskeletal system.


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. Please follow this link for some further information


I am one of the co-investigators for MA-PODS, which stands for Microfluidic Automated Platform for Osteoarthritis Drug Screening. This is a consortium between Alcyomics Ltd and the universities of Newcastle, Leeds, York and Nottingham. The project is sponsored by GSK and receives £1million of co-funding from Arthritis Research UK and EPSRC. We are developing an in vitro model of the human OA joint to significantly reduce the number of animal models used in OA research and drug development and to improve predictivity to the clinic. MA-PODS is part of the NC3Rs CRACK IT challenge and runs until 2020. More information can be found here£2-million-awarded-advance-ophthalmic-and-osteoarthritis-3rs-research-and-drug-development 

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 and of the role of methylation at CpG dinucleotides as an epigenetic regulator of OA genetic risk.

The technical expertise that the OAG employs includes:

  • genetic association analysis by case-control methods
  • overall gene expression analysis using 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 DNA 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. At our 2018 world congress in Liverpool, we had over 1200 delegates and over 800 abstracts.

Within OARSI I have performed a number of roles:

  • Past-president (2017-2019)
  • 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 2nd Osteoarthritis Epigenetics Workshop, Dublin, Ireland (November 2018). Go to
  • Academic promotions external expert, Stanford School of Medicine, Stanford University (2018)
  • Member of the Scientific Academic Track review panel for Edinburgh University (2017)
  • Chair of the Arthritis Research UK Senior Research Fellowships committee (2016)
  • Advisor on Professorial appointment to Boston University School of Medicine, USA (2016)
  • Co-organiser and co-chair of the 1st Osteoarthritis Epigenetics Workshop, Amsterdam, Netherlands (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 25 oral presentations in the past 5 years) 


I have been the principal investigator (PI) for 28 grants and the co-investigator (CI) for an additional 21, with a total grant income of over £26 million.

My current grants come from the following funders and agencies:

  • Medical Research Council (MRC)
  • Arthritis Research UK
  • European Union
  • Randerson Foundation
  • JGW Patterson Foundation
  • Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Ruth and Lionel Jacobson Charitable Trust
  • Royal College of Surgeons of Edinburgh
  • GlaxoSmithKline

Public engagement

In the past five years, I have presented my groups research activities to a number of patient and public meetings across the north of England, including in Newcastle upon Tyne, Chester-le-Street, Wansbeck and Appleby. We also regularly host 6th form students (year 12 and 13) during the summer holidays, with four joining us in the lab during 2018.


Undergraduate Teaching

  • Lecturer on the BSc Biomedical Sciences course (BMS3010)
  • Exam question setter and marker
  • Supervisor for undergraduate laboratory projects
  • Supervisor for undergraduate vacation scholarships sponsored by the Wellcome Trust and Newcastle University
  • 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 and MSci laboratory projects
  • Supervisor for Academic Foundation trainees
  • MRes and MSci project marker