Professor John Loughlin

Date of Birth: 23rd April 1965

Position: Professor of Musculoskeletal Research, Newcastle from 2008

Previous positions: University Lecturer in Musculoskeletal (tenured post), 2002 - 2007 University of

Arthritis Research Campaign , University of Oxford 1997 - 2002

Postdoctoral Scientist, Wellcome Trust Centre for Human 1995 - 1997 Genetics, University of Oxford

Postdoctoral Scientist, Institute of Molecular Medicine, 1991 - 1995 University of Oxford

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

Address: , Institute of Cellular Medicine, Musculoskeletal Research Group, 4th Floor Catherine Cookson Building, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH,

Email: [email protected] Tel: +44 (0)191 208 7178 Mobile/cell: +44 (0)789 494 9574 Web: http://www.ncl.ac.uk/biomedicine/research/groups/profile/john.loughlin

Principal Research Focus

Molecular genetic, epigenetics and functional analysis of osteoarthritis (OA) susceptibility loci and the translation of this knowledge to the development of new biomarkers, treatments and therapeutics.

Group members One research fellow, five postdoctoral scientists, two research technicians and three PhD students

Key academic attributes 1) Published widely o Original research papers, commissioned review articles, editorials, News & Views commentaries and book chapters

2) Collaborative o 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 1

between the of Liverpool, Newcastle and . I lead work package 1, which is directed toward the integration of research programmes in molecular and cellular mechanisms. o I am a key investigator for D-BOARD, a European Union FP7-funded 5-year collaborative project focussing on OA biomarkers. I lead work package 3, which is directed to the use of genomics, epigenomics and transcriptomics for novel OA biomarker development. o I am a key investigator for APPROACH, an Innovative Medicines Initiative (IMI)/EU- funded 5-year public-private partnership. I lead work-package 1, which is directed to the development of a longitudinal cohort for enhancing OA diagnosis. o From 2007-2011 I was the investigator for arcOGEN, a UK consortium funded by Arthritis Research UK and directed toward the association mapping of OA susceptibility loci. The consortium involved eleven centers across the UK and helped to delineate the genetic architecture of this common disease.

3) Have international standing o President of the Osteoarthritis Research Society International (OARSI, 2015-2017) o President-elect of OARSI (2013-2015) o Secretary General of OARSI (2010-2013) o Member of the Board of Directors of OARSI (2007-2017) o Chair of the OARSI ethics committee (2012-2014) o Co-organiser and co-chair of the 1st Osteoarthritis Epigenetics Workshop (2015) o Advisor on professorial appointments for Johns Hopkins University School of Medicine, USA, and Duke University Medical Center, USA (2014) o Member of The Fellowship Implementation Committee of Arthritis Research UK (2007- 2013) o Chair of the meeting “Genetics, genomics and functional analysis of OA susceptibility”, Barcelona, Spain, (2012) o Chair of the OA Biomarkers Global Initiative, 2nd workshop, Atlanta, USA (2010) o External assessor for Professorial appointments, (2009) o Expert reviewer for INSERM o Scientific advisor to NIAMS o Member of the Faculty of 1000 Medicine o Invited to present my research and overviews of the research area at international conferences in Europe, North America and Asia i. Over 40 oral presentations in the past 5 years o Invited to publish editorials and other commentaries on the research field o Session Chair and Program Committee member for international meetings o Editorial Board member for the journals Osteoarthritis & Cartilage, and BMC Musculoskeletal Disorders o Reviewer of manuscripts submitted to the discovery category of peer-review journals o Reviewer of Program grants, Fellowships and Projects grants submitted to European, Asian and Australian funding agencies

4) PI on twenty six peer-reviewed grants and co-investigator for an additional 11 • Total grant income to date > £25 million

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5) Extensive undergraduate and graduate teaching and supervisory experience o Lecturer on the BSc biomedical sciences and biomedical genetics courses, and on the MRes musculoskeletal biology and genetics of common disease courses o Supervisor for undergraduate and MRes laboratory projects, for Wellcome Trust-funded vacation scholarships and for the student selected component (SSC) of medical training o PhD supervisor

6) Varied administrative experience • International, national and local committees

Ten recent key publications:

1. Reynard LN, Bui C, Syddall CM, Loughlin J (2014) CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis SNP rs143383. Human Genetics 133:1059-1073. 2. Rushton MD, Reynard LN, Barter MJ, Refaie R, Rankin KS, Young DA, Loughlin J (2014) Characterization of the cartilage DNA methylome in knee and hip osteoarthritis. Arthritis Rheumatology 66:2450-2460. 3. Reynard LN, Loughlin J (2013) Insights from human genetic studies into the pathways involved in osteoarthritis. Nature Reviews Rheumatology 9:573-583. 4. Syddall CM, Reynard LN, Young DA, Loughlin J (2013) The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genetics 9:e1003557. 5. Dodd AW, Syddall CM, Loughlin J (2013) A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. European Journal of Human Genetics 21:517-521. 6. arcOGEN Consortium, et al, Ralston SH, Valdes AM, Spector TD, Loughlin J (2012) Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. The Lancet 380:815-823. 7. Raine EV, Wreglesworth N, Dodd AW, Reynard LN, Loughlin J (2012) Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Annals Rheumatic Diseases 71:2020-2027. 8. Reynard LN, Bui C, Canty-Laird EG, Young DA, Loughlin J (2011) Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Human Molecular Genetics 20:3450-3460. 9. Dodd AW, Rodriguez-Fontenla C, Calaza M, Carr A, Gomez-Reino JJ, Tsezou A, Reynard LN, Gonzalez A, Loughlin J (2011) Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus. Osteoarthritis and Cartilage 19:430-434. 10. Riancho JA, García-Ibarbia C, Gravani A, Raine EVA, Rodríguez-Fontenla C, Soto-Hermida A, Rego-Perez I, Dodd AW, Gómez-Reino JJ, Zarrabeitia MT, Garcés CM, Carr A, Blanco F, González A, Loughlin J (2010) Common variations in estrogen-related genes are associated with severe large joint osteoarthritis: a multicenter genetic and functional study. Osteoarthritis Cartilage 18:927-933.

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