Institute of Genetic Medicine

Skeletal Disease

Skeletal Disease

We aim to increase our understanding of skeletal development and disease.


Cartilage is a connective tissue that drives long bone growth until puberty and coats the articular surfaces of joints throughout life, providing biomechanical stability, a near friction-free surface for joint articulation, and protection for the underlying bone. Cartilage is a complex zonally stratified tissue that is regulated by many endo- and paracrine signals. Dysregulation of this system due to rare but penetrant mutations leads to conditions collectively termed skeletal dysplasias. Dysregulation and loss of cartilage is also a feature of common multifactorial and polygenic skeletal diseases, such as age-associated osteoarthritis (OA) and the inflammatory disease rheumatoid arthritis (RA).

Our research bridges these rare and common diseases in a holistic approach to understand cartilage development and ageing. Ultimately, we will exploit this knowledge for patient benefit. We have 3 principal areas of investigation:


Members of the Skeletal Research Group deliver research-based teaching and supervise undergraduate and postgraduate research projects. This includes supervision of academic clinical fellows (ACFs) and academic foundation trainees on the academic foundation programme (AFP) (Prof John Loughlin)

Undergraduate teaching

Apart from taking part in third year undergraduate research projects, second year summer projects and work placements throughout the year, undergraduates can study a number of courses that include modules with lectures delivered by members of the Skeletal Research Group. These include:

Postgraduate teaching

The Musculoskeletal Ageing (CIMA) MRes course prepared in collaboration with the MRC funded The Centre for Integrated research into Musculoskeletal Ageing is suitable for suitable for both science graduates and intercalating medical students and allows students to gain expertise in musculoskeletal ageing.

We also contribute to several undergraduate and postgraduate modules:

  • MMB8011 Biology of Ageing This module provides an overview on current thinking on why ageing is observed in almost all organisms, what factors influence the rate of ageing, the key mechanisms of ageing, as well as the current understanding of the molecular and cellular mechanisms of ageing.
  • MEC8023 Biomaterials and Tissue Engineering The module covers fundamental aspects of biomaterials science and tissue engineering, with an emphasis on orthopaedic biomaterials and bone tissue engineering for clinical applications.
  • MMB8009 Clinical Epidemiology This module aims to provide the students with a sound theoretical and practical understanding of the value, theoretical basis and practicalities of epidemiology and approaches to epidemiological research.
  • MMB8002 Current Research Trends in Musculoskeletal Disease The module aims to inform students about the molecular and cellular mechanisms underlying musculoskeletal disorders, the experimental methods used to characterise the underlying (patho)physiology and both the current and future approaches to the treatment of musculoskeletal disease.
  • MMB8031 Developmental Genetics The aims of this module are to introduce students to the genetic mechanisms controlling developmental processes, to illustrate their importance for identifying and evaluating inherited disorders in humans and to provide the students with a comprehensive knowledge about the latest research technologies applied to the analysis and understanding of gene functions in the developing mammalian embryo.


Principal investigatorArea of expertise

Prof Michael Briggs

Investigation of biomolecular mechanisms of rare skeletal conditions

Prof John Loughlin

Molecular genetic basis of common diseases of the musculoskeletal system

Dr Katarzyna Piróg

Mechanosensing in cartilage ageing and disease

Dr Louise Reynard

Epigenetic modifications in OA and RA progression

Prof Drew Rowan

Extracellular matrix remodelling and enzymic activity during OA progression

Prof David Young

Epigenetic modifications in cartilage development and disease


Dr Maria Arques Mengual
Research Associate

Dr Matthew Barter
Research Associate - Molecular Rheumatol

Telephone: 01912418626

Professor Michael Briggs
Professor of Skeletal Genetics

Telephone: +44 (0) 191 241 8820

Sarah Charlton
Research Assistant

Ella Dennis
Research Assistant

Dr Adrian Falconer
Research Associate

Robert Jackson
Laboratory Research Technician

Telephone: +44 (0) 191 208

Hua Lin
Research Assistant

Telephone: 0191 208 7075

Professor John Loughlin
Prof of Musculoskeletal Research

Telephone: +44 (0) 191 241 8988

Dr Eleanor Parker
Research Associate

Dr Katarzyna Pirog
Lecturer in Musculoskeletal Genetics

Telephone: +44(0) 191 241 8622

Dr Marta Radwan
Marie Sklodowska-Curie GF Fellow

Dr Sarah Rice
Research Associate

Telephone: 0191 2418 626

Emeritus Professor Drew Rowan
Professor of Molecular Rheumatology

Telephone: +44 (0)191 208 8821/7541

Dr Colin Shepherd
Research Associate

Telephone: 0191 241 8672

Dr Tony Sorial
Clinical Fellow in Orthopaedics


Maria Tselepi
Research Technician

Dr David Wilkinson
Research Associate

Professor David Young
Professor of Musculoskeletal Biology

Telephone: +44 (0) 191 241 8831

PhD Students

Find out about out current PhD students.

StudentLead supervisor
Will Thompson  Dr Louise Reynard
Raul Fulea  Dr Louise Reynard
Silvia Lecci  Prof David Young
Yao Hao  Prof David Young
Thais De Las Heras Ruiz  Dr Katarzyna Piróg
Beth Gibson  Prof Michael Briggs and Dr Katarzyna Piróg


Do you want to find out more about Skeletal Disease?

Please contact theme representative Prof David Young.