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End of Year Report 2007 Edit

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End of Year Report 2007 Edit End of Year Report 2007-2008 Wales Gene Park End of Year Report 2007-2008 Summary The Wales Gene Park aims to support and promote the creation, dissemination and application of genetic knowledge in Wales, particularly to improve health and to contribute to the development of a “knowledge economy ”. With continuing financial backing from the Wales Assembly Government via WORD the Wales Gene Park has established a broad portfolio of work ranging from support for basic and translational research in medical genetics to educational initiatives for health professionals, schools and the general public. Wales is fortunate to have a depth and breadth of genetics expertise that is exceptionally strong for such a small country. In the current year this was recognised by the award of the Nobel Prize for Physiology or Medicine to Professor Sir Martin Evans of Cardiff University for the discovery of embryonic stem cells and the award of a Queen’s Anniversary Prize for Higher Education to Cardiff University’s Institut e of Medical Genetics in recognition of the quality Vice Chancellor Dr David Grant and of its research and teaching. Professor Julian Sampson receiving the Queen’s Anniversary Prize for Higher During the current year over £3.6M of Education, on behalf of the Institute of external funding for medical genetics Medical Genetics. research has been won for Wales and genetic researchers have contributed to many interdisciplinary projects (with clinical oncology, cardiology and others) that have brought much additional research funding into Wales. The facilities and expertise provided by the Wales Gene Park have been a critical factor in this success. Genetic discoveries made in Wales have been developed to provide new tests to improve the diagnosis of disease and to enable some of the first drug trials for previously untreatable inherited disorders. The Wales Gene Park’s educational programmes continue to up-skill the NHS workforce so that these advances can be implemented to provide better care for patients and families across Wales. Through our outreach programme we have involved over 3000 school pupils in challenging educational events addressing topical issues such as genetics and mental health, designer babies and the Police National DNA Database. Through their enthusiasm and hard work the Wales Gene Park team have contributed significantly to the continuing development of genetics as a unique strength for Wales. I hope that in this annual report I have succeeded in representing properly their achievements. Julian Sampson, Chairman 2 Wales Gene Park End of Year Report 2007-2008 THE WORK OF THE WALES GENE PARK.................................................... 5 WORK PACKAGE 1: MANAGEMENT AND GOVERNANCE .................. 5 WORK PACKAGES 2 AND 3: WALES GENE PARK TECHNOLOGY PLATFORMS............................................................................................................... 6 > Genomics Facility........................................................................................................................................ 6 Colorectal Cancer Genetics: ......................................................................................................................6 Technology Development:..........................................................................................................................7 Other projects:..................................................................................................................................................7 > Transgenic Facility .................................................................................................................................... 7 WORK PACKAGE 4: EDUCATION AND PUBLIC ENGAGEMENT..... 8 > Educational Programme for Health and Biomedical Professionals: ..................................................................................................................................................... 9 · Mammalian Genetics, Development & Disease Workshop.............................9 · Orphan Drugs and Rare Diseases........................................................................................9 Challenges of Clinical Cardiovascular Genetics................................................................10 VHL Disease: A Multidisciplinary Masterclass ...................................................................10 > Genetics for the Nursing Professions..................................................................................10 > Schools Events ............................................................................................................................................10 · Living with Genetic Conditions............................................................................................10 · Discussion sessions on the National DNA Database .........................................11 · Events for Sixth Form Students..........................................................................................11 · Teachers’ Genetics Network..................................................................................................12 > Public Events: ..............................................................................................................................................12 Discussion sessions on contemporary genetics issues: ...........................................12 · Discuss DNA ........................................................................................................................................12 · National DNA Database .............................................................................................................12 · DNA & Forensics ..............................................................................................................................12 · Science Café Wales........................................................................................................................13 · Genetic Diversity Display .........................................................................................................13 WORK PACKAGE 5: SOCIETAL ISSUES AND THE PATIENT VOICE.........................................................................................................................14 > Genetics and Mental Health.............................................................................................................14 Boy Genius Theatre Project.....................................................................................................................14 Social Science Focus on Psychiatric Genetics...............................................................................15 > Familial Hypercholesterolaemia (FH) – securing patient and family involvement.......................................................................................................................................16 > Patient Needs and Neuromuscular Services in Wales...............................................16 3 Wales Gene Park End of Year Report 2007-2008 > National DNA Database on Trial: Avoiding the Usual Suspects ........................17 WORK PACKAGE 6: SIR PETER HARPER CLINICAL RESEARCH FELLOWSHIP IN MEDICAL GENETICS.....................................................17 WORK PACKAGE 7: CARDIOVASCULAR GENETICS..........................18 > The Familial Hypercholesterolaemia (FH) Cascade Testing Project.....................................................................................................................................................................18 > Developing Clinical Research and Services in Cardiac Genetics .......................18 WORK PACKAGE 8: NEURO-PSYCHIATRIC GENETICS...................19 > Genetic Progress and New Challenges in Psychiatric Disorders ......................19 > Epilepsy Genetics Research .............................................................................................................19 WORK PACKAGE 9: CANCER GENETICS..................................................20 > Colorectal Cancer.....................................................................................................................................20 A. Translational Clinical Trials in Colorectal Cancer....................................................20 B. Mouse Models of Colorectal and Other Cancers ........................................................20 COMMERCIALISATION .....................................................................................21 HEALTH SERVICES RESEARCH.....................................................................22 > Department of Health – Health Services Research and Genetics Programme ..............................................................................................................................22 Deaf individuals’ understanding and perception of genetics and their needs from a genetic counselling service .......................................................................................22 Cancer Genetics Psychosocial Research...........................................................................................22 APPENDICES...........................................................................................................23 1. Selected Grants funding Genetic Research in Wales. ...........................................23 2. Selected Publications .......................................................................................................................25 Basic and Clinical Research......................................................................................................................25
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