MHS Faculty Research Series | Professor Bernard Keavney and Dr Emma MM Burkitt Wright
|16 October 2013
|12:30 - 14:00
|What is it:
|Institute of Cardiovascular Sciences
|Who is it for:
|Current University students, University staff
Host: Institute of Cardiovascular Sciences and Institute of Human Development
Senior presenter: Professor Bernard Keavney, Director Institute of Cardiovascular Sciences: “Genetics of congenital heart disease”
Bernard’s main research interest is in the genetics of complex cardiovascular diseases. Among contributions he and his colleagues have made to this field are: the first demonstration of “haplotype blocks” in the human genome (1996); the first success in trans-ethnic genetic fine mapping of a complex trait in man (1998); the first large-scale genetic studies of myocardial infarction (2000-2004); the introduction of the approach known as “Mendelian Randomisation” into genetic epidemiology (2001); several large-scale meta-analyses of genetic associations with myocardial infarction (2005-2008); demonstration of the mechanism involved in the association between MI and its strongest common genetic risk factor (polymorphisms at CDKN2B-AS1 2010); demonstration of association between copy number variants in the human genome and sporadic congenital heart disease (2012) and the first genome-wide association 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 cardiovascular 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.
Junior presenter: Dr Emma MM Burkitt Wright MRCP (UK), Wellcome Trust Clinical Research Training Fellow in Genetic Medicine, Institute of Human Development: “Cardiac phenotypes in the germline disorders of the Ras-MAPK pathway”
Emma 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 condition, and its relationship to other germline Ras-MAPK pathway disorders, including Noonan syndrome and neurofibromatosis type I (NF1). A shared feature across these conditions is the presence of congenital heart disease and cardiomyopathy in a significant proportion of patients. Through 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 identified, and studying these is helping to advance understanding of the cardiac and other phenotypes that occur in these disorders.
Registration: Please note that places will be limited so registration is essential, please register via Eventbrite: http://mhsfacultyresearchseries16oct.eventbrite.co.uk/
To register for future events: http://universityofmanchester-fmhs-fro.eventbrite.co.uk/
About the Faculty Research Series:
- These are monthly events that are open to all staff and students from across the Faculty of Medical and Human Sciences and the University, offering an opportunity to celebrate research achievement and stimulate scientific interaction. Each month, one host School or Institute from the Faculty will pair with a different School or Institute to highlight and showcase similar topics from different perspectives.
- The 2013 series is being led by Professor David Eisner and administered from the Faculty Research Office.
- 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.
- Each presentation will be followed by a short discussion.
- A buffet lunch will be available from 12.30 pm.
- Presentations begin: 1.00 pm.
- Final details of presentation topics and speakers will be posted nearer the dates.
Travel and Contact Information
Jean McFarlane Building