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:
Molecular mechanisms of common skeletal conditionsMolecular mechanisms of common skeletal conditions
Prof John Loughlin’s group investigates the molecular genetics and epigenetics of common musculoskeletal diseases, mapping and investigating risk-conferring loci and using this knowledge as biomarkers to predict OA initiation and track disease progression.
Prof Drew Rowan is a proteinase biochemist with interests in the molecular mechanisms that mediate tissue destruction as well as the signal transduction events that lead to the transcriptional activation of the proteinase genes.
Pathobiology of rare skeletal conditionsPathobiology of rare skeletal conditions
Prof Michael Briggs’s group investigates the pathomolecular mechanisms and therapeutic approaches in a range of skeletal dysplasias that result from cellular stress due to an unfolded protein response (UPR).
Dr Katarzyna Piróg is interested in the extracellular matrix abnormalities associated with disease and ageing and the mechanisms by which the cells sense such changes in musculoskeletal tissues.
Epigenetic modifications in cartilage development and diseaseEpigenetic modifications in cartilage development and disease
Prof David Young’s research interests include the mechanisms involved in gene expression, with a focus on how these genes are epigenetically regulated by non-coding RNAs (microRNAs and long non-coding RNAs), DNA methylation and chromatin modifications.
Dr Louise Reynard’s research focuses on functional genetic and epigenetic analysis of musculoskeletal diseases, and the modulation of the effect of genetic variation on disease penetrance and severity.
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)
Apart from taking part in third year undergraduate research projects, seond 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:
- BMS3010 Genetics of Common Diseases
- BGM2057 Medical genomics: from DNA to disease (led by Dr Katarzyna Pirog)
- BGM3062 Genetics of development and its disorders
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 investigator||Area 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
Dr Matthew Barter
Research Associate - Molecular Rheumatol
Professor Michael Briggs
Professor of Skeletal Genetics
Telephone: +44 (0) 191 241 8820
Dr Adrian Falconer
Telephone: 0191 208 7075
Professor John Loughlin
Prof of Musculoskeletal Research
Telephone: +44 (0) 191 241 8988
Dr Eleanor Parker
Dr Katarzyna Pirog
Lecturer in Musculoskeletal Genetics
Telephone: +44(0) 191 241 8816
Dr Marta Radwan
Marie Sklodowska-Curie GF Fellow
Professor Drew Rowan
Professor of Molecular Rheumatology
Telephone: +44 (0)191 208 8821/7541
Dr Tony Sorial
Dr David Wilkinson
Professor David Young
Professor of Musculoskeletal Biology
Telephone: +44 (0) 191 241 8831
Find out about out current PhD students.
|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.