THE UNIVERSITY OF EDINBURGH COLLEGE OF MEDICINE AND VETERINARY MEDICINE

THE INSTITUTE OF GENETICS AND MOLECULAR MEDICINE

CENTRE FOR

MOLECULAR MEDICINE Director: Professor David Porteous, BSc, PhD, FRSE, FRCP(Edin), FMedSci, Professor of Human Molecular Genetics & Medicine

THE UNIVERSITY OF EDINBURGH COLLEGE OF MEDICINE AND VETERINARY MEDICINE

THE INSTITUTE OF GENETICS AND MOLECULAR MEDICINE

CENTRE FOR

MOLECULAR ME TO INVESTIGATE THE CCNS WAS MOLECULAR AND GENETIC ESTABLISHED IN BASIS OF HUMAN DISEASE

2005 TO PROMOTE RESEARCH IN THE GENERAL AREA OF COGNITION, AS IT APPLIED TO MEDICINE, INFORMATICS AND NEUROSCIENCE

The Centre aims to:

• investigate the molecular and genetic basis of human disease • conduct and integrate the highest quality clinical, epidemiological, statistical and laboratory science

• translate the knowledge thus gained into improved scientific understanding and clinical practice • promote the discipline of genetics and molecular medicine through undergraduate and postgraduate teaching and research training

• disseminate research progress through peer reviewed publication, academic and public engagement.

BACKGROUND Opened in 1996, the Molecular Medicine Centre building provides a first class research and training environment in clinically relevant, molecular biology and genetics research for around 150 staff. In the 2001 Research Assessment Exercise, the research outputs were returned in the Clinical and Hospital based subjects Unit of assessment and rated 5* and in the 2008 RAE ranked first in the UK. Research funding held by senior investigators exceeded £60 million in 2003 and remains strong.

EDICINE RESEARCH PROFILE Expertise in all aspects of medical genetics (clinical, cytogenetic, molecular), genomics, bioinformatics and statistics. Strong research portfolio in complex genetics of common disease (major mental illness, inflammatory bowel disease, bone and joint disease, cancer) linked to NHS clinical genetics. Well equipped for all aspects of molecular biology, genetics and pathology. Founders and principal investigators in Generation Scotland, a family based population genetics study.

MAJOR RESEARCH SUCCESSES

• Identification of DISC1 as a novel risk factor in Schizophrenia, Bipolar Disorder and Major Depression

• Identification of a novel locus on Chromosome 4 determining risk of bipolar affective disorder

• Identification through use of molecular cytogenetic screening of PDE4B, GRIK4 and NPAS3 as candidate risk factor genes in major mental illness

• Establishment jointly with Oxford University and Imperial College, London of the UK Cystic Fibrosis Gene Therapy Consortium to take gene therapy research out of the laboratory and into clinical practice

• Identification of eEF1A2, a translation elongation factor, as the defect in wasted mice, a model for motor neuron disease

• Identification of new genes in childhood-onset Crohn's disease (CHOP collaboration)

• Completion of the largest genome scan in ulcerative colitis (WTCCC2 collaboration).

Image courtesy of Davidson Read Associates.

VALUE ADDED Physically and intellectually linked to the MRC Human Genetics Unit and the Edinburgh Cancer Research Centre, now comprising the Institute of Genetics and Molecular Medicine (~500 research scientists). Linked to the Wellcome Trust Clinical Research Facility and associated Genetics Core facility to underpin all genetics/genomics research and to the Edinburgh Clinical Trials Unit.

MAJOR SOURCES OF FUNDING MRC, CRUK, Wellcome Trust, ARC and CSO.

THE UNIVERSITY OF EDINBURGH COLLEGE OF MEDICINE AND VETERINARY MEDICINE

CENTRE FOR

THE INSTITUTE OF GENETICS AND MOLECULAR MEDICINE

MOLECULAR MEDICINE

RESEARCH GROUPS MEDICAL GENETICS This section is headed by Prof. David Porteous. The section embraces all aspects of Medical Genetic research from single gene and developmental anomalies to common complex disease, using bioinformatic, statistical, quantitative and epidemiological genetics approaches combined with comparative genomics, cellular, developmental and molecular and cytogenetic methods. Major topics include:

• Translation elongation factors in health and disease • Developing gene therapy for treatment of cystic fibrosis • The genetics of Schizophrenia and Bipolar Affective Disorder • Generation Scotland: Family and population based studies of common complex disease

• Genetics of Stroke • Genetics of colorectal cancer • Recruitment and consenting of subjects for genetic studies • Genetic education and training for healthcare specialists. RHEUMATIC DISEASES This section is headed by Prof. Stuart Ralston. The Rheumatic Diseases Unit at the University of Edinburgh is part of the School of Molecular and Clinical Medicine and is based at the Molecular Medicine Centre at the Western General Hospital. Research within the unit focuses on both clinical and basic science, which are being combined to study the pathogenesis and management of bone and joint diseases such as osteoporosis, Paget's disease of Bone and inflammatory arthritis. Clinically qualified staff within the unit contribute to the Rheumatology service within NHS Lothian and the head of the unit. GASTROINTESTINAL DISEASES This section is headed by Prof. Jack Satsangi. The main focus of research within the Unit is the pathogenesis of the chronic inflammatory bowel diseases (Crohn's disease and ulcerative colitis) and of gluten sensitive enteropathy (coeliac disease). The epidemiology, genetics and mechanisms of gene-environmental interactions in these diseases are under evaluation. Pharmacogenetics, and the development of novel immuno-therapies remain a further focus of investigation. CLINICAL GENETICS The SE Scotland Genetic Service is headed by Prof. Mary Porteous. There are currently 5 consultant clinical geneticists, three of whom are also Senior Clinical Research Scientists in the MRC Human Genetics Unit. The service participates in several major, national studies.

MAJOR FACILITIES/EQUIPMENT High throughput gene sequencing, genotyping and expression platforms at WTCRF Genetics Core. Fluorescence imaging for molecular pathology.

KEY EXTERNAL LINKS/COLLABORATIONS Edinburgh Cancer Research Centre and MRC Human Genetics Unit (now Institute of Genetics and Molecular Medicine), WTCCC, Sanger Institute, Imperial College London, University of Oxford, Cold Spring Harbor Laboratories, Edinburgh Centre for Translational and Chemical Biology, Centre for Cognitive Ageing and Cognitive Epidemiology.

FUTURE PLANS AND DIRECTIONS Translational research in molecular medicine, using knowledge derived from molecular genetics analysis of complex disease, insights into pathway biology and use of chemical biology to interrogate disease process, building to target discovery and clinical trial.

ADDITIONAL INFORMATION Weekly Seminar Series, Annual Research Symposium

POSTGRADUATE ENQUIRIES Dr Cathy Abbott ([email protected])

POSTGRADUATE SCHOLARSHIPS Check our website at www.mmc.med.ed.ac.uk. Students with their own sources of funding are welcome to apply at any time; initial applications for self-funded students should be made to the relevant supervisor, who will then consult the PG Convenor. See also the IGMM site at www.igmm.mrc.ac.uk.

CONTACT DETAILS The Centre for Molecular Medicine Crewe Road South Edinburgh EH4 2XU Scotland UK Tel. +44 (0) 131 651 1041 Email: [email protected] Website: www.mmc.med.ed.ac.uk/ Some images courtesy of MRC Human Genetics Unit.