Meeting Program The Genomics of Common Diseases

The conference will begin on Wednesday, September 23, 2009 with registration at 13.00. The conference will conclude after lunch on Saturday, September 26, 2009.

Meeting Program


Wednesday, September 23
Introduction
13:00 Registration - Conference Centre Foyer
15:00 Welcome and Introductions
  Where to with GWAS?
Chairs: David Altshuler and Peter Donnelly
15:15 Genetics of Type 2 Diabetes
David Altshuler
Broad Institute of MIT and Harvard, USA
15:40 Where to with GWAS: from an epidemiologist's perspective
Wen Hong Linda Kao
Johns Hopkins Bloomberg School of Public Health, USA
16:05 From GWAS to the hemoglobin switch
Stuart Orkin
Children's Hospital & Dana Farber Cancer Institute, USA
16:30 Identification of common polygenic variation from over 135 loci highlights the complex genetic architecture underlying adult height
Karol Estrada
Erasmus MC, Netherlands
16:45 Physiological characterization of novel genetic loci implicated in glucose metabolism in humans
Erik Ingelsson
Karolinska Institutet, Sweden
17:00 Afternoon Tea
17:30 Keynote lecture
Chair: David Altshuler

Going from susceptibility loci to phenotypes and disease precursors
John Todd
University of Cambridge, UK
18:15 Drinks reception
19:30 Dinner
21:00 Close of day

Thursday, September 24
  Whole genome and targetted resequencing
Chairs: Debbie Nickerson and Peter Campbell
9:00 Next-generation Mendelian genetics by exome resequencing
Debbie Nickerson
University of Washington, USA
9:25 Targeted enrichment and sequencing of coding exons in cancer
Peter Campbell
Wellcome Trust Sanger Institute, UK
9:50 Progress on the 1000 Genomes Project
Richard Durbin
Wellcome Trust Sanger Institute, UK
10:15 Loss-of-function mutations in healthy human genomes: implications for clinical genome sequencing
Daniel MacArthur
Wellcome Trust Sanger Institute, UK
10:30 High-throughput targeted resequencing of human genomic disease loci using solution sequence capture
Rebecca Selzer
Roche NimbleGen, Inc. USA
10:45 Morning coffee
  Technologies
Chairs: Andre Marziali and Richard Gibbs
11:15 Electrophoretic nucleic acid concentration with application to sequence enrichment
Andre Marziali
University of British Columbia, USA
11:40 Affordable human genome sequencing for large-scale studies of genetic diseases
Radoje Drmanac
Complete Genomics, Inc. USA
12:05 Population sequencing of genomic intervals to identify variants underlying complex traits
Kelly Frazer
University of California San Diego, USA
12:30 Discovery and analysis of single-nucleotide polymorphisms and short insertion and deletions in low-pass (pilot 1) and deep coverage (pilot 2) whole-genome and hybrid capture (pilot 3) next-generation sequencing in the 1000 genomes project
Mark DePristo
Broad Institute of MIT and Harvard, USA
12:45 Single-tube amplification for targeted resequencing of thoUSAnds of target fragments
Olle Ericsson
Olink Genomics, Sweden
13:00 Lunch
  Cancer genomics
Chairs: Lynda Chin and Nazneen Rahman
14:00 Genome-wide association studies for cancer
Gilles Thomas
Foundation Jean Dausset, France
14:25 Lessons from genome-wide association studies of lung cancer
Paul Brennan
International Agency for Research on Cancer, France
14:50 Epigenetic predisposition to cancer - lessons from Wilms
Nazneen Rahman
Institute of Cancer Research, UK
15:15 Functionalizing the cancer genome
Lynda Chin
Dana Farber Cancer Institute, USA
15:40 Poster session 1 with afternoon tea
17:15 Keynote lecture
Chair: Leena Peltonen

Evolution of the cancer genome
Michael Stratton
Wellcome Trust Sanger Institute, UK
18:00 Drinks reception - Pimms out on the lawn
19:00 Conference dinner
22:00 Close of day

Friday, September 25
7:30 Breakfast
  Structural variation
Chairs: Matthew Hurles and James Lupski
9:00 Genomic disorders are common diseases: studying copy-number variation (CNV) to understand human development and disease
James Lupski
Baylor College of Medicine, USA
9:25 Common copy number variation in the human genome: mechanism, selection and disease
Matthew Hurles
Wellcome Trust Sanger Institute, UK
9:50 CNV-targeted genome-wide association study of 16,000 cases of eight common diseases and 3,000 shared controls
Chris Holmes
University of Oxford, UK
10:15 Human genome structural variation in common disease
Steve McCarroll
Broad Institute of MIT and Harvard, UK
10:40 Structural genomic variation in Asian populations
Charles Lee
Harvard Medical School, USA
11:05 Morning coffee
  Population and statistical genetics
Chairs: Gil McVean and Gonçalo Abecasis
11:30 "Reverse genomics" approach implies the role of large CNVs in cognitive deficits and Psychiatric disorders in a population cohort
Olli Pietiläinen
Wellcome Trust Sanger Institute, UK
11:45 Turnover of primate recombination hotspots is driven by rapid evolution of zinc fingers within a chromatin-modifying gene
Gil McVean
Oxford University, UK
12:10 Sequencing 1,000s of Genomes
Gonçalo Abecasis
University of Michigan,USA
12:35 Full genome phasing - getting there and going from there
Augustine Kong
Decode Genetics, Iceland
13:00 Recent genome selection in humans and malaria parasites
Dominic Kwiatkowski
Wellcome Trust Sanger Institute, UK
13:25 Meta-analysis of >100,000 individuals identifies 63 new loci associated with serum lipid concentrations
Tanya Teslovich
University of Michigan, USA
13:40 Lunch
  Cell and animal models
Chairs: Anton Burns and Karen Steel
14:40 New genes involved in deafness from large-scale mouse screens
Karen Steel
Wellcome Trust Sanger Institute, UK
15:05 Insertional mutagenesis: a potent oncogenomic tool to unravel the genetics of cancer
Anton Berns
Netherlands Cancer Institute, Netherlands
15:30 Genetic architecture of oligogenic disease
Nicholas Katsanis
Johns Hopkins University School of Medicine, USA
15:55 Genetic basis of complex traits in mice
Jonathan Flint
University of Oxford, UK
16:20 QTL gene identification in rat crescentic glomerulonephritis: implications for human autoimmune disease
Jacques Behmoaras
Imperial College, London, UK
16:35 Poster session 2 with afternoon tea
18:00 Keynote lecture
Chair: Myles Axton

Systems genetics of complex traits in Drosophila
Trudy MacKay
North Carolina State University, USA
18:45 Cheese and wine reception
19:30 Dinner
21:00 Close of day

Saturday, September 26
7:30 Breakfast
  Translational genetics
Chairs: Mary Relling and Tim Aitman
9:00 Genomic medicine in the UK
Tim Aitman
UK
9:15 Pharmacogenomics of childhood acute lymphoblastic leUKemia
Mary Relling
St Jude Children's Research Hospital, USA
9:40 Breast cancer genes in clinical practice
Diana Eccles
University of Southampton, UK
10:05 Genetic etiology of Inflammatory Bowel Disease - a paradigmatic approach to chronic inflammatory disorders?
Stefan Schreiber
Christian-Albrechts University, Germany
10:30 Genetic variants altering individual plasma lipid components and risk for myocardial infarction
Sekar Kathiresan
Massachusetts General Hospital, USA
10:45 PNPLA3 variants confer risk of liver but not metabolic disease
Elizabeth Speliotes
Massachusetts General Hospital, USA
11:00 Morning coffee
  Regulation and epigenetics
Chairs: Doug Higgs and Manel Esteller
11:30 Unexpected effects of sequence variation on gene expression
Doug Higgs
Molecular Haematology Unit, UK
11:55 Epigenetics in health and disease
Manel Esteller
Cancer Epigenetics & Biology Programme (PEBC), Spain
12:20 Links between aging, age-related disease and development
Eline Slagboom
Leiden University Medicine Centre, Netherlands
12:45 DNA-methylation; alterations, mechanisms and implications in human disease
Tomas Ekstrom
Karolinska Institute, Sweeden
13:10 The FTO obesity and type 2 diabetes susceptibility haplotype is associated with higher levels of DNA methylation
Christopher Bell
University College London, UK
13:25 Lunch
Close of conference