Genomic Disorders 2009 – Genomic Variation in Health and Disease
Wellcome Trust Conference Centre, Hinxton, UK
9-11 March 2009
REGISTRATION IS NOW CLOSED
Building on the success of two previous meetings held at Hinxton in 2007 & 2008, Genomic Disorders 2009 aims to present an exciting blend of genomic science and clinical science. The meeting will discuss the latest findings relating to the genomic basis of human variation, congenital disorders and acquired diseases including complex traits. The 2009 meeting coincides with the 200th anniversary of Darwin’s birth and the 150th anniversary of the publication of his seminal work ‘On the Origin of Species’.
A distinguished group of invited speakers will discuss the latest findings in genomic variation and its phenotypic effects; in addition submitted abstracts will be welcome from delegates for platform and poster presentations.
Since genomic variation underpins so many of Darwin's observations on speciation and natural selection there will be a special scientific session devoted to evolutionary genetics. Topics to be discussed will include copy number variation and assays, genomic architecture and structural variation predisposing to genomic rearrangement, genomic rearrangements in common diseases, X chromosome disorders, genetic syndromes and model organisms in the study of genomic disorders.
Scientific Programme Committee:
Nigel Carter, Wellcome Trust Sanger Institute, UK
Dian Donnai, University of Manchester
Helen Firth, Cambridge University Dept. of Medical Genetics, UK
Jim Lupski, Baylor College of Medicine, USA
Sessions:
- Genomic disorders, copy number variation and clinical practice
- Genomic instability
- Genomic variation in common diseases
- Copy number variation and disorders of the brain
- Genomic approaches to developmental disorders
- Genetics of X-chromosome disorders
- Genetic syndromes
- Models of genomic disorders
- Genomic disorders – an evolutionary perspective
Speakers include:
Tim Aitman, Imperial College, London, UK
John Armour, University of Nottingham, UK
Bassem A. Bejjani, Signature Genomics Lab, USA
Peter Campbell, Wellcome Trust Sanger Institute, UK
Nigel Carter, Wellcome Trust Sanger Institute, UK
Dian Donnai, University of Manchester, UK
Richard Durbin, Wellcome Trust Sanger Institute, UK
Helen Firth, Cambridge University Dept. of Medical Genetics, UK
David Fitzpatrick, Edinburgh, UK
Doug Higgs, Wellcome Institute for Molecular Medicine, UK
Matt Hurles, Wellcome Trust Sanger Institute, UK
Sir Alec Jeffereys, University of Leicester, UK
Maria Karayiorgou, Columbia University, USA
Jim Lupski, Baylor College of Medicine, Houston, USA
George Perry, University of Chicago, USA
Orly Reiner, Weizman Institute, Israel
Kari Stefansson, deCODE, Reykjavík, Iceland
Patrick Tarpey, Wellcome Trust Sanger Institute, UK
Chris Tyler-Smith, Wellcome Trust Sanger Institute, UK
Lauren Weiss, University of California, USA
Genomic Disorders 2009 – Genomic Variation in Health and Disease
Wellcome Trust Conference Centre, Hinxton
March 9th - 11th 2009
Programme
Spoken presentations - If you are an invited speaker, or your abstract has been selected for a spoken presentation, please give an electronic version of your talk to Dr Nigel Carter in the reception area of the Conference centre
Poster presentations – If your abstract has been selected for a poster, please display this in the Cloisters
Monday 9th March 2009
15.00 Registration
Conference Centre Foyer
1st Scientific session Francis Crick Auditorium Chair: Nigel Carter
Genomic disorders, copy number variation and clinical practice
17.00 ‘The clinical impact of structural variation’
Jim Lupski, Baylor College of Medicine, USA
17.45 ‘High throughput genomic array analysis as a clinical service’
Bassem Bejjani, Signature Genomic Laboratories, USA
18.15 ‘The 1000 genomes project’
Richard Durbin, Wellcome Trust Sanger Institute, UK
18.45 Pre-dinner drinks
Conference Centre Foyer
19.30 Dinner
Hall restaurant
22.00 Coach departs for Cambridge
Tuesday 10th March 2009
07.45-08.45 Breakfast
Hall Restaurant
08.00 Coach Departs Cambridge
2nd Scientific session Francis Crick Auditorium Chair: Jim Lupski
Genomic instability
08.45 ‘Allelic and ectopic recombination in the human genome’
Sir Alec Jeffreys, University of Leicester, UK
09.10 ‘Mitotic NAHR in the evolution of cancer’
Peter Campbell, Wellcome Trust Sanger Institute, UK
09.35 ‘The evolution and modification of long range regulation of gene expression’
Doug Higgs, Wellcome Insitute for Molecular Medicine, UK
10.00 ‘Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture’ Lisenka Vissers1, Samarth Bhatt2, Irene Janssen1, Zhilian Xia2, Seema Lalani2, Rolph Pfundt1, Katarzyna Derwinska2,3, Bert de Vries1, Christian Gilissen1, Alexander Hoischen1, Monika Nesteruk2,3, Barbara Wisniowiecka-Kowalnik2,3, Marta Smyk2,3, Han Brunner1, Sau Wai Cheung2, Ad Geurts van Kessel1, Joris Veltman1,4, Pawel Stankiewicz2,4
10.15 ‘A strategy for genome-wide detection of genomic variation in single cells’ Peter Konings1, Evelyne Vanneste2,3, Thierry Voet2, Joris Vermeesch2 and Yves Moreau1
10.30 Coffee - Sponsored by 23andme
Conference Centre Foyer and Cloisters
3rd Scientific session Francis Crick Auditorium Chair: Doug Higgs
Genomic variation in common diseases – Sponsored by RainDance Technologies
11.00 ‘Structural variation in common diseases’
Matt Hurles, Wellcome Trust Sanger Institute, UK
11.30 ‘The use of whole-genome technologies to understand the causation of common diseases’,
Tim Aitman, Imperial College, London, UK
12.00 ‘Beta-defensins in psoriasis’
John Armour, University of Nottingham, UK
12.30 ‘A common variant on chromosome 11q13 is associated with atopic dermatitis’
Jorge Esparza-Gordillo1,2,16, Stephan Weidinger3,4,16, Regina Fölster-Holst5, Anja Bauerfeind2, Franz Ruschendorf2, Giannino Patone2, Klaus Rohde2, Ingo Marenholz1,2, Florian Schulz1,2, Tamara Kerscher1,2, Norbert Hubner2, Ulrich Wahn1, Stefan Schreiber6,7, Andre Franke6, Rainer Vogler7, Simon Heath8, Hansjörg Baurecht4,9, Natalija Novak10, Elke Rodriguez3,4, Thomas Illig11, Min-Ae Lee-Kirsch12, Andrzej Ciechanowicz13, Michael Kurek14, Milan Macek15, Tereza Piskackova15, Andreas Ruether6, Young-Ae Lee1,2
12.45 ‘Genome-Wide Screen for Copy Number Variation in Metabolic Syndrome’
Kati Kristiansson, Chris Barnes, Markus Perola, Antti Jula, Veikko Salomaa, Samuli Ripatti, Matthew Hurles, Leena Peltonen
13.00 Lunch
Hall Restaurant
4th Scientific session Francis Crick Auditorium Chair: Jim Lupski
Copy number variation and disorders of the brain
14.00 ‘Structural variation of the genome in patients with autism’
Lauren Weiss, University of California, USA
14.25 ‘Large recurrent microdeletions associated with schizophrenia’
Kari Stefansson, deCODE, Reykjavík, Iceland
14.50 ‘A novel microduplication in chromosome 14q11.2 in a family with ataxia and seizures.’
Nicola Brunetti-Pierri1, Christa L. Haun2, Marsha F. Browning2,3, Pawel Stankiewicz1.
15.05 ‘The Autism Genome Project: Dissecting the Role of Copy Number Variation in Autism Spectrum Disorder’
Dalila Pinto1 and Stephen W. Scherer1 for the Autism Genome Project Consortium
15.20 ‘Recurrent rearrangements in synaptic and neurodevelopmental genes support the existence of shared biological pathways between Schizophrenia, Autism and Mental Retardation’
Audrey Guilmatre1, Christèle Dubourg2, Anne Laure Mosca1,3, Solenn Legallic1, Alice Goldenberg4, Valérie Drouin-Garraud4, Valérie Layet5, Antoine Rosier6, Sylvain Briault7, Frédérique Bonnet-Brilhault8, Frédéric Laumonnier8, Sylvie Odent9, Gael Le Vacon1, Géraldine Joly-Helas4, Véronique David2, Claude Bendavid2, Jean-Michel Pinoit10, Céline Henry10, Caterina Impallomeni11, Eva Germano11, Gaetano Tortorella11, Gabriella Di Rosa11, Catherine Barthelemy8, Christian Andres12, Laurence Faivre3, Thierry Frébourg1, Pascale Saugier Veber1, Dominique Campion1
15.35 ‘Sequence Capture Approaches Coupled to Next Generation Sequencing to Identify Candidate Mutations Causing Inherited Disorders’
Luke Dannenberg1, Thomas J. Albert1, Daniel Burgess1, Matthew Bainbridge2, Lynne Nasareth2, Jeffrey A. Jeddeloh1, Donna M. Muzny2, Jacob Kitzman1, Mark D’Ascenzo1, Xinmin Zhang1, and Richard A. Gibbs2
15.45 Tea
Conference Centre Foyer and Cloisters
5th Scientific session Francis Crick Auditorium Chair: Dian Donnai
Genomic and bioinformatics approaches to developmental disorders
16.15 ‘How genomic disorders illuminate out understanding of human development’ David Fitzpatrick, MRC Human Genetics Unit, UK
16.40 ‘The Human Phenotype Ontology: A tool for annotating and analyzing human hereditary disease.’
Peter Nick Robinson, Berlin, Germany
17.05 ‘Genome-wide approaches to understanding developmental disorders – Deciphering Developmental Disorders’
Nigel Carter, Wellcome Trust Sanger Institute, UK and Helen Firth, Addenbrookes Hospital, UK
17.30 ‘How to get the best from your array CGH data?’
Léon-Charles Tranchevent1, Stein Aerts2,4, Peter Van Loo1,3,4, Bert Coessens1, Bassem A. Hassan2,4, and Yves Moreau1
17.40 ‘Disease gene identification by network analysis of differential expression’ Daniela Nitsch, Léon-Charles Tranchevent, Yves Moreau
17.50 ‘Clinical applications of the CHDWiki : a portal to manage and gather cardiogenetic data.’
J Breckpot, R Barriot, B Thienpont, M Gewillig, Y Moreau, K Devriendt
18.00 Poster session
Cloisters
18.45 Pre-dinner drinks Sponsored by DNA GENOTEK
Conference Centre Foyer
19.30 Conference dinner
Hall Restaurant
22.00 Coach Departs for Cambridge
Wednesday 11th March 2009
07.45-08.45 Breakfast
Hall Restaurant
08.00 Coach departs Cambridge
6th Scientific session Francis Crick Auditorium Chair: Mike Stratton
Genetics of X-chromosome disorders
09.00 ‘Genetics of X-Linked Mental Retardation’
Patrick Tarpey, Wellcome Trust Sanger Institute, UK
09.25 ‘Two X-linked mental retardation syndromes with Rett-like movements in affected males’
Dian Donnai, University of Manchester, UK
09.45 ‘Genomic rearrangements from single exons to megabases cause X-linked mental retardation’
Annabel Whibley1, Vincent Plagnol1, Patrick S Tarpey2, Richard W Francis1, Raffaella Smith2, Jozef Gecz3, Anna Hackett4, Mike Field4, Roger Stevenson5, Charles Schwartz5, P Andrew Futreal2, Michael R Stratton2, F Lucy Raymond1,
10.00 ‘A novel recurrent copy number gain at Xq28 in four families with mental retardation reveals a dosage-dependent severity of the phenotype and suggests a novel recombination mechanism’
Hilde Van Esch1, Joke Vandewalle2,3, Karen Govaerts2,3, Jelle Verbeeck2,3, Christiane Zweier4, Irene Madrigal5, Montserrat Mila5, Elly Pijkels1, Isabel Fernandez6, Detlef Böhm7, Christiane Spaich8, Jürgen Kohlhase7, Anita Rauch4, Peter Marynen2,3, Jean-Pierre Fryns1, Guy Froyen2,3
10.15 ‘Characterisation of a Defective DNA Damage Response in Cullin 4B-Mutated X-linked Mental Retardation: Potential Clues to Understanding the Aetiology of Underlying Clinical Features.’
Claudia Kerzendorfer, Lucy Raymond, Annabel Whibley Emily Outwin*, Sherif El-Khamisy, and Mark O‘Driscoll,
10.30 Coffee
Conference Centre Foyer and Cloisters
7th Scientific session Francis Crick Auditorium Chair: David Fitzpatrick
Genetic syndromes
11.00 LIS1 duplication
Orly Reiner, Weizman Institute, Israel
11.30 ‘Cooks syndrome is associated with duplications of SOX9 regulatory sequences’
Eva Klopocki1, Ingo Kurth2, Sigmar Stricker3, Jolieke van Oosterwijk1, Jens Altmann4, Thomy de Ravel5, Andrew Wilkie6, Andreas Gal2 and Stefan Mundlos1,3
11.45 ‘A Novel Microdeletion Syndrome Involving 5Q14.3-Q15: Clinical And Molecular Cytogenetic Characterisation Of Three Patients’
Hartmut Engels 1, Eva Wohlleber 1, Alexander Zink 1, Juliane Hoyer 2, Kerstin U. Ludwig 3, Felix F. Brockschmidt 3, Dagmar Wieczorek 4, Ute Moog 5, Birgit Hellmann-Mersch 6, Ruthild G. Weber 1, Lionel Willatt 7, Martina Kreiß-Nachtsheim 1, Helen V. Firth 7, Anita Rauch 2
12.00 ‘An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome features’
Femke Hannes1, Peter Hammond2, Oliver Quarrell3, Jean-Pierre Fryns1, Koenraad Devriendt1, Joris Robert Vermeesch1
12.15 ‘Genomic, genic deletions and point mutations within the FOX transcription factor gene cluster in 16q24.1 result in syndromic or isolated lung developmental disorders’
Pawel Stankiewicz1,14,, Partha Sen2,14, Samarth S Bhatt1, Mekayla Storer3,4, Zhilian Xia1, Zhishuo Ou1, Joanna Wiszniewska1, Marwan Shinawi1, Bassem A. Bejjani5, Daniel J. Driscoll6, Juan Bolivar7, Mislen Bauer7, Elaine H. Zackai8, Malgorzata M.J. Nowaczyk9, Mitzi Murray10, Tamim H. Shaikh8, Lisa G. Shaffer5, Vicki Martin3,4, Matthew Tyreman11, Ingrid Simonic11, Lionel Willatt11, Joan Paterson12, Sarju Mehta12, Diana Rajan4, Tomas Fitzgerald4, Susan Gribble4, Elena Prigmore4, Ankita Patel1, Nigel P. Carter4, Sau Wai Cheung1, Claire Langston13 & Charles Shaw-Smith3,4
12.30 ‘Array CGH, the double-edged result: the explanation but also an unexpected prediction.’
Thomy JL de Ravel, Koen Devriendt, Joris R Vermeesch, Jean-Pierre Fryns.
12.45 ‘Genetic compensation in a human genomic disorder’
Nadège Calmels1, Pascale Saugier-Veber6, Françoise Girard-Lemaire1, Gabrielle Rudolf2, Bérénice Doray3, Eric Guérin4, Pierre Kuhn5, Mathilde Arrivé1, Catherine Gilch1, Evelyne Schmitt1, Séverine Fehrenbach6, Albert Schnebelen7, Thierry Frébourg6, Elisabeth Flori1
13.00 Lunch Hall Restaurant
8th Scientific session Francis Crick Auditorium Chair: Dian Donnai
Models of genomic disorders
14.00 ‘MicroRNA biogenesis and cognitive and behavioural deficits in a 22q11-deletion mouse model.’
Maria Karayiorgou, Columbia University, USA
14.30 ‘Identifying CNV genes that contribute to developmental delay and autism.’
Caleb Webber, Oxford University, UK
15.00 ‘ENG and TGFBM2 are polygenic modifiers of arterio-venous malformation in Hereditary Haemorrhagic Telangiectasia.’
Tom GW Letteboer1,2, Michael Benzinou1, Kelly A Harradine1, Frederic Clermont1, Ritu Roy1, Brad Aouizerat3,4, Hans-Kristian Ploos van Amstel2, Kees J Westermann5, Rosemary J Akhurst1,4.
15.15 ‘Segmental copy number variation shapes tissue transcriptomes’ Charlotte N. Henrichsen1,4, Nicolas Vinckenbosch1,4, Sebastian Zöllner2,4, Evelyne Chaignat1, Sylvain Pradervand1, Frédéric Schütz1,3, Manuel Ruedi4, Henrik Kaessmann1,5, Alexandre Reymond1,5
15.30 Tea
Conference Centre Foyer and Cloisters
9th Scientific session Francis Crick Auditorium Chair: Helen Firth
Genomic disorders – an evolutionary perspective
16.00 ‘Genomic variation in primate evolution – what makes us human?" George Perry, University of Chicago, USA
16.30 ‘Copy number variation in human evolution – genetic diversity and the struggle for survival’
Chris Tyler-Smith, Wellcome Trust Sanger Institute, UK
17.00 ‘A novel protective prion protein variant shows evidence of strong selection and co-localises with kuru exposure’
Simon Mead1, Jerome Whitfield1,2, Mark Poulter1, Paresh Shah1, James Uphill1, Tracy Campbell1, Huda Al-Dujaily1, Holger Hummerich1, Jon Beck1, Charles A Mein3, Claudio Verzilli4, John Whittaker4, Michael Alpers1,5, John Collinge1
17.15 Multi-ethnic investigation of copy-number variation in the human FCGR2A andFCGR3B genes and its clinical implication in the malaria phenotype
Imad Faik, Bertrand Lell, Sanjeev Krishna, Peter G. Kremsner, Jürgen F.J. Kun
18.45 Pre-dinner drinks
Conference Centre Foyer
19.30 Dinner
Hall Restaurant
22.00 Coach departs for Cambridge
Thursday 12th March 2009
08.00 Coach Depart Cambridge
08.30-09.30 Breakfast
Hall Restaurant
09.30 Transfer to Cambridge Departs
09.30 Transfer to LHR Airport via STN Airport Departs
