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End of Year Report 2009-2010 WALES GENE PARK END of YEAR REPORT 2009 - 2010

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End of Year Report 2009-2010 WALES GENE PARK END of YEAR REPORT 2009 - 2010 End of Year Report 2009-2010 WALES GENE PARK END OF YEAR REPORT 2009 - 2010 Foreword The Wales Gene Park supports medical genetic research and its translation to advances in healthcare, delivers education and facilitates engagement in genetic issues in the NHS and with the public. Through its work it seeks to ensure that the many opportunities presented by new genetic knowledge and technologies are seized in Wales. Genetics is integral to many areas of modern medicine and much of the research and translation and professional education undertaken by the Wales Gene Park occurs at the interface between medical genetics and mainstream medical specialities. It supports development of DNA analysis that forms a major strand of modern diagnosis for both inherited and acquired disease and that is often critical to the provision of appropriate treatment. It also supports the development of genetic approaches to identify those at risk of disease enabling earlier intervention and improved outcomes. Our work with the wider public serves several purposes. It helps patients and families affected by genetic disorders to influence the development of health services, health policies and the research agenda. It brings young people at school face to face with the issues and opportunities raised by genetics. These young people are the future scientists and health care providers for Wales. Their enthusiasm and insightful engagement is hugely encouraging. During the current year the Wales Assembly Government renewed its funding for the Wales Gene Park for a further 5 years. The Wales Gene Park will use its resources to ensure that Wales continues to punch far above its weight in this fast moving area of biomedical science. Julian Sampson Chairman 1 WALES GENE PARK END OF YEAR REPORT 2009 - 2010 WALES GENE PARK END OF YEAR REPORT 2009 - 2010 Contents Work Package 1: Work Package 2: Work Package 1 Management & Genomics Facility Management & Governance 3 Governance Facilit Work Package 2 The Wales Gene Park Executive Management The Facility provides Sanger Genomic Facility 3 Team (EMT) represents stakeholders from the sequencing and high NHS Wales, HEIs undertaking medical genetic resolution melt (HRM) research in Wales and Techniquest. The EMT analysis for mutation Work Package 3 meets three times per year to review progress, detection in research and Transgenics 4 address problems, consider feedback from the diagnostic applications. It Advisory Group, note the outcomes of quarterly also provides automated review meetings held with the Wales Office of liquid handling for PCR set- Work Package 4 Research and Development (WORD) Project up and DNA extraction for Education & Public Engagement 4 Management Team and to agree any changes the Wales Cancer Bank. to the work plan. Throughout the 2009-2010 Work Package 5 The Chairman, Secretary and Strategic Director reporting period J Colley Societal Issues & Public Voice 8 of the Wales Gene Park meet quarterly with the and the Facility team have WORD Wales Gene Park Project Management worked on the COINtrans Work Package 6 Team to review quarterly reports. Progress is project investigating the The Sir Peter Harper Clinical Research mapped against milestones set out in the genetic basis of response to and side effects Fellowship in Medical Genetics 9 annual work plan, any variations are discussed from chemotherapy for metastatic colorectal in and agreed and opportunities for future approximately 2000 cases and controls developments are considered. Cardiff University recruited from across the UK. At the time of Work Package 7 Finance Department provides quarterly budget writing this project is close to completion and Cardiovascular Genetics 10 returns to WORD and undertakes reconciliation further details are provided in the report for at the end of each financial year. Work Package 9, Cancer Genetics. Work Package 8 The Wales Gene Park Advisory Group meets The Facility has been used for diagnostic Neuropsychiatric Genetics 10 twice a year to ensure the governance and analysis of the TSC1 and TSC2 genes by HRM appropriate reporting structures for Wales Gene and sequence analysis for UK NHS users and Park within Cardiff University. for health providers from abroad (99 contracts Work Package 9 completed in this reporting period). The data Cancer Genetics 11 generated have been utilised in a study of the pathogenic effects of TSC1 missense mutations that were heretofore incorrectly considered to Selected Publications 13 be non disease-causing (Mozaffari M et al. BMC Medical Genetics 2009 11;10:88). Selected Presentations 18 The Facility has undertaken a study of somatic mutations associated with mTOR pathway activation in neuroendocrine tumours of the Media Coverage 20 pancreas (see Work Package 9, Cancer Genetics). Selected Grants funding Genetic A tender specification has been developed for Research in Wales 21 a next generation sequencing platform for implementation by the Facility during the year Financial Statement 22 2010-2011. 3 WALES GENE PARK END OF YEAR REPORT 2009 - 2010 WALES GENE PARK END OF YEAR REPORT 2009 - 2010 Work Package 3: Work Package 4: Educational Programme for Schools and College Transgenic Production Education & Public Genetics Road-show for Schools 2009 Facility (TPF) Engagement The Genetics Road-show ran from September to December 2009. Thirty schools throughout all counties of Wales hosted programmes The Transgenic Production The Education and Public Engagement Work delivered by experts from the research, justice Facility (TPF) has undertaken Package is delivered across three areas: and health service communities. These were pronuclear microinjection, education for health and biomedical science attended by 3,348 students. blastocyst microinjection, professionals, schools and colleges and rederivation and the public. The programme addressed advances in DNA cryopreservation for technology, their potential benefits to society, researchers primarily from and ethical concerns. Both schools and Cardiff University, but also Attendance numbers, Wales Gene Park Education Genetic Road-show - Ysgol Tregib, Llandeilo and Engagement Programme, 2003-2009 speakers said that they would like to take part for clients in the Scotland, in a similar project in the future. Ireland and Germany. Public discussion: GM Food for Thought 5000 2003 A newspaper article on the road-show The work of the facility during the reporting 2004 27th April 2009 4500 appeared in the ‘Western Telegraph’ on period has comprised: 2005 A discussion on GM food was held with a public 2006 Wednesday 30th December 2009 4000 2007 audience at the Gartholwg Lifelong Learning Blastocyst microinjection - 9 projects 2008 Centre, Church Village, Pontypridd. The panel 3500 2009 Teachers’ Genetics Network comprised Prof Denis Murphy, University of An electronic newsletter is distributed to the Pronuclear microinjection - 5 projects 3000 Glamorgan, Jonathon Harrington - a farmer and a Network each term, to keep members informed of member of CropGen, Dr Michael Antoniou, King’s Rederivation - 19 projects 2500 forthcoming events and teaching resources. The College London and Haf Elgar, Friends of the newsletter is a useful tool to keep in touch with Earth Cymru. 47 attendees. 2000 Cryopreservation - Bio-Cool teachers across Wales and bordering counties. cryopreservation machine was purchased 1500 Public talk: The Real Gene-eration Game! and has been heavily used with 30 in 30th April 2009 1000 progress or completed Educational Programme for the Public “The Real Gene-eration Game!” explored how 500 genetics could be used to investigate the The transgenic mouse strains produced by the Community Group Events ancestral roots of people in Britain. The speakers 0 Facility model human genetic disorders Health Schools Public The Wales Gene Park has developed several were Dr Bruce Winney, University of Oxford, and including bowel cancer and dementia and have Professionals discussion games based on the Democs© Dr Turi King, University of Leicester. 42 attendees. enabled research into the genetic mechanisms system developed by the New Economics of these disorders and pre-clinical studies of Foundation. Wales Gene Park’s ‘Discuss DNA – Science Café Cardiff: Should Everyone Be novel therapy. Added to the DNA Database? Educational Programme for Health The National DNA Database’ and ‘The $1000 Genome’, have proved popular choices together 5th May 2009 and Biomedical Professionals with Democs topics such as ‘Over the counter Science Café Cardiff invited the The National genetic testing’ and ‘GM Crops ’ Approximately DNA Database on Trial project team to talk at The 2nd Cardiff Symposium on Clinical 100 people, from a variety of organisations, the May event. The National DNA Database on Cardiovascular Genetics attended various events throughout the year. Trial was a joint public engagement project from 23rd – 24th November 2009 the University of Glamorgan, The Wales Gene This 2 day international symposium held in 14th April 2009 Park, Techniquest and Swansea University with Cardiff was organised in conjunction with Dr D Women’s Institute, St Fagans funding from the Wellcome Trust. It encouraged Kumar, Institute of Medical Genetics. It focused 15th July 2009 young people to explore social and ethical on recent developments, current best practice Women’s Institute, Whitchurch & Llandaff issues surrounding the National DNA Database and the challenges of delivering the integrated via a mock trial. The talk was given by Dr services for inherited cardiovascular
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