Fundamentals of Clinical Genetics

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
Please note the course content may be subject to change

Friday 15th January 2010
08.00-09.00 Breakfast Hall Restaurant
9th session Mechanisms of disease and approaches to risk
analysis James Watson Pavilion
08.45-09.30 Mechanisms of molecular dominance and recessivity Prof Andrew Wilkie
09.30-10.15 The family history, prior risk and risk analysis Dr Jane Hurst
10.15 - 11.00 Workshop on Bayes Theorem
11.00.11.30 Coffee Cloisters

10th session Foundations of dysmorphology James Watson Pavilion
11.30 - 12.30 Phenotyping and standardization of nomenclature Prof
Karen Temple
12.30-13.00 Nomenclature in skeletal disorders Dr Sarah Smithson
13.00-14.00 Lunch Hall Restaurant

11th session Genes in development James Watson Pavilion
14.00-14.45 Transcription factors in development Prof David Fitzpatrick
14.45-15.30 Genetic control of morphogenesis Prof David Fitzpatrick
15.30-16.00 Tea Cloisters
.
Course ends and delegates depart

Registration Fees
Specialist Registrar 3 day £275
Consultant 3 day £350