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We are very fortunate to have the opportunity to host this course at the Wellcome Trust Genome Campus which has played a key role in some of the scientific developments to be discussed during the meeting. Teaching faculty Nigel Carter, Doug Easton, Helen Firth, David Fitzpatrick, Richard Gibbons, Matt Hurles, Jane Hurst, Eamonn Maher, Mike Parker, Andrew Read, Sarah Smithson, Karen Temple, Daniel J Turner, Andrew Wilkie Tuesday 12th January 2010 Registration from 16.00 hours Conference Centre Foyer 17.00 Tour of the Sanger Institute Departs from Conference Foyer 18.45 Pre-dinner drinks Hall Foyer 19.30 Dinner Hall Restaurant Wednesday 13th January 2010 08.00-.9.00 Breakfast Hall Restaurant 1st session The Human Genome James Watson Pavilion Fundamentals of Clinical Genetics Course Outline v4 HVF 22.10.2009 Please note the course content may be subject to change 09.00-09.05 Welcome and Introduction Dr Helen Firth 09.05-09.30 The human genome project Dr Helen Firth 09.30-10.30 Human genome variation - normal variation (CNV's and SNP's) Dr Matt Hurles 10.30-11.00 Coffee Cloisters 2nd session From chromosomes to sequence James Watson Pavilion 11.00-12.00 Chromosomes and chromosomal rearrangements Prof Andrew Read 12.00-12.30 Genomic microarrays Dr Nigel Carter 12.30-13.00 Next generation sequencing technologies Dr Daniel J Turner 13.00-14.00 Lunch Hall Restaurant 3rd session Genes structure and regulation James Watson Pavilion 14.00-14.45 Gene structure and regulation of gene expression including splicing and regulatory elements Prof Andrew Read 14.45-15.30 Mutations and sequence variants - nomenclature and effects on proteins, splicing and regulatory elements Prof Andrew Read 15.30-16.00 Tea Cloisters 4th session Workshop session 16.00-17.15 Workshop on the interpretation of array data DECIPHER team 17.15-18.30 Workshop on the interpretation of sequence variants Prof Andrew Wilkie 18.45 - 19.15 Opportunity for trainees to have tutorial discussion based on content covered during the day - Jane Hurst/ Sarah Smithson 18.45 Pre-dinner drinks Hall Foyer 19.30 Dinner Hall Restaurant Fundamentals of Clinical Genetics Course Outline v4 HVF 22.10.2009 Please note the course content may be subject to change Thursday 14th January 2010 08.00-09.00 Breakfast Hall Restaurant 5th session Epigenetics and mosaicism James Watson Pavilion 08.45-09.15 Mosaicism - germline and somatic Prof Eamonn Maher 09.15-10.30 Epigenetics, imprinting and microRNAs Dr Richard Gibbons 10.30-11.00 Coffee Cloisters 6th session Cancer genetics James Watson Pavilion 11.00-12.15 Introduction to cancer genetics illustrated by studies of VHL, renal cancer and inherited predisposition to phaeochromocytoma Prof Eamonn Maher 12.15-13.00 The Cancer genome project tba? 13.00-14.00 Lunch Hall Restaurant 7th session Genetics of common disease James Watson Pavilion 14.00-15.30 Genetics of breast cancer Prof Doug Easton 15.30-16.00 Risk estimates in complex disorders Prof Andrew Read 16.00-16.30 Tea Cloisters 8th session Workshop and Panel Discussion on implications of whole genome technologies for Clinical Genetics Prof Mike Parker 16.30-17.00 An ethical framework for considering the clinical implications of whole genome technologies 17.00-17.30 Small group work to establish topics for discussion and debate (i) Implications for the investigation and management of patients (ii) Implications for the consent process (iii) Implications for the storage and analysis of data (iv) Implications for the specialty of clinical genetics and its interface with other specialties 17.30-18.45 Panel discussion - an interactive session moderated by Mike Parker in which the implications of whole genome technologies are discussed 18.45 Pre-dinner drinks Hall Foyer 18.45 - 19.15Opportunity for trainees to have tutorial discussion based on content covered during the day - Jane Hurst/ Sarah Smithson 19.30 Course Dinner Hall Restaurant Fundamentals of Clinical Genetics Course Outline v4 HVF 22.10.2009 Ple

We are very fortunate to have the opportunity to host this course at the Wellcome Trust Genome Campus which has played a key role in some of the scientific developments to be discussed during the meeting. Teaching faculty Nigel Carter, Doug Easton, Helen Firth, David Fitzpatrick, Richard Gibbons, Matt Hurles, Jane Hurst, Eamonn Maher, Mike Parker, Andrew Read, Sarah Smithson, Karen Temple, Daniel...

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