BEGIN:VCALENDAR PRODID:-//Columba Systems Ltd//NONSGML CPNG/SpringViewer/ICal Output/3.3- M3//EN VERSION:2.0 CALSCALE:GREGORIAN METHOD:PUBLISH BEGIN:VEVENT DTSTAMP:20131002T080754Z DTSTART:20131016T113000Z DTEND:20131016T130000Z SUMMARY:MHS Faculty Research Series | Professor Bernard Keavney and Dr Em ma MM Burkitt Wright UID:{http://www.columbasystems.com/customers/uom/gpp/eventid/}j2d-hawn4b1 j-71b3nb DESCRIPTION:'''Host:''' Institute of Cardiovascular Sciences and Institut e of Human Development\n\n'''Senior presenter:''' Professor Bernard Keav ney\, Director Institute of Cardiovascular Sciences: “Genetics of congen ital heart disease”\n\nBernard’s main research interest is in the geneti cs of complex cardiovascular diseases. Among contributions he and his c olleagues have made to this field are: the first demonstration of “haplo type blocks” in the human genome (1996)\; the first success in trans-eth nic genetic fine mapping of a complex trait in man (1998)\; the first la rge-scale genetic studies of myocardial infarction (2000-2004)\; the int roduction of the approach known as “Mendelian Randomisation” into geneti c epidemiology (2001)\; several large-scale meta-analyses of genetic ass ociations with myocardial infarction (2005-2008)\; demonstration of the mechanism involved in the association between MI and its strongest commo n genetic risk factor (polymorphisms at CDKN2B-AS1 [2010])\; demonstrati on of association between copy number variants in the human genome and s poradic congenital heart disease (2012) and the first genome-wide associ ation studies of congenital heart disease in the literature (2013). His group is now chiefly interested in understanding the functional biology underlying some of the many genetic associations with complex cardiovasc ular diseases that have been detected in genome-wide association studies \, and using next-generation sequencing approaches to further define the genetic architecture of congenital heart disease.\n\n'''Junior presente r:''' Dr Emma MM Burkitt Wright MRCP (UK)\, Wellcome Trust Clinical Rese arch Training Fellow in Genetic Medicine\, Institute of Human Developmen t: “Cardiac phenotypes in the germline disorders of the Ras-MAPK pathway ” \n\nEmma started training in Clinical Genetics in Manchester in 2006\, as the first NIHR academic clinical fellow in the specialty. In 2009\, she obtained a Wellcome Trust research training fellowship to undertake a PhD at the University of Manchester. This has focussed on cardio-facio -cutaneous (CFC) syndrome\, including the first UK-based study of this c ondition\, and its relationship to other germline Ras-MAPK pathway disor ders\, including Noonan syndrome and neurofibromatosis type I (NF1). A s hared feature across these conditions is the presence of congenital hear t disease and cardiomyopathy in a significant proportion of patients. Th rough the Manchester Centre for Genomic Medicine’s molecular diagnostic service\, and the longstanding clinical expertise of Dr Bronwyn Kerr in CFC and Costello syndromes\, and Professor Gareth Evans and Dr Sue Huson in NF1\, large cohorts of patients with these conditions have been iden tified\, and studying these is helping to advance understanding of the c ardiac and other phenotypes that occur in these disorders.\n\n'''Registr ation:''' Please note that places will be limited so registration is ess ential\, please register via Eventbrite: http://mhsfacultyresearchseries 16oct.eventbrite.co.uk/\n\nTo register for future events: http://univers ityofmanchester-fmhs-fro.eventbrite.co.uk/\n\n'''About the Faculty Resea rch Series:'''\n\n* These are monthly events that are open to all staff and students from across the Faculty of Medical and Human Sciences and t he University\, offering an opportunity to celebrate research achievemen t and stimulate scientific interaction. Each month\, one host School or Institute from the Faculty will pair with a different School or Institut e to highlight and showcase similar topics from different perspectives.\ n\n* The 2013 series is being led by Professor David Eisner and administ ered from the Faculty Research Office. \n\n* View video: 'Faculty Resear ch Series: introduction'\, see: http://www.mhs.manchester.ac.uk/intranet /events/researchseries/researchintro\n\n* Held on Wednesday lunchtimes\, each meeting lasts an hour\, including two 20-25 minute presentations – one from a junior and one from a more senior member of Faculty staff. \ n\n* Each presentation will be followed by a short discussion.\n\n* A bu ffet lunch will be available from 12.30 pm.\n\n* Presentations begin: 1. 00 pm.\n\n* Final details of presentation topics and speakers will be po sted nearer the dates. STATUS:TENTATIVE TRANSP:TRANSPARENT CLASS:PUBLIC LOCATION:G306b \, Jean McFarlane Building \, Oxford Rd\, Manchester\, M13 9PY END:VEVENT END:VCALENDAR