1. Skeletal dysplasias, G. Mortier, C. Hall
2. Noninvasive prenatal diagnosis: An update from the
   SAFE network of excellence, L. Chitty
3. Using the Ensembl and HapMap databases, B. Overduin, P. de Bakker
4. Genetic epidemiology: association studies, J. Witte
5. Difficult counselling cases (joint with EMPAG), F. Ramos, T. Clancy
   with the support of the Real Patronato sobre Discapacidad

Welcoming addresses by
Eduardo Tizzano, Local Host
Feliciano Ramos, President of the AEGH
Pier Franco Pignatti, President of the ESHG
Claire Julian-Reynier, Co-Chair of the EMPAG Scientific Committee
Isabel Ribas Seix, Representative of the Mayor of the city of Barcelona
Marina Geli, Regional Minister for Health, Catalonia
Alberto Infante Campos, General Director of Cohesion of the SNS and High Inspection
 

• PL1.1 Understanding the Influence of Conditional Host-Karyome-Microbiome Interactions in Health and Disease (30')
  Jeremy Nicholson, London, United Kingdom
   
• PL1.2 Apoptosis, cell competition and tumour progression in Drosophila (30')
  Gines Morata, Madrid, Spain
   
• PL1.3 Human evolution: palaeontology and ancient DNA (30')
  Juan Luis Arzuaga Ferreras, Madrid, Spain

PL2.1 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
A. Rauch¹, C. T. Thiel¹, U. Wick¹, Y. J. Crow², D. Schindler³, A. Ekici¹, C. Zweier¹, A. J. van Essen⁴, T. O. Goecke⁵, L. Al-Gazali⁶, K. H. Chrzanowska⁷, H. G. Brunner⁸, K. Becker⁹, C. J. Curry¹⁰, B. Dallapiccola¹¹, K. Devriendt¹², E. Kinning¹³, A. Megarbane¹⁴, P. Meinecke¹⁵, R. K. Semple¹⁶, A. Toutain¹⁷, R. Hennekam¹⁸, R. Trembath¹⁹, H. G. Dörr²⁰, A. Reis¹;
¹Insitute of Human Genetics, Erlangen, Germany, ²Leeds Institute of Molecular Medicine, Leeds, United Kingdom, ³Insitute of Human Genetics, Würzburg, Germany, ⁴Department of Genetics, Groningen, The Netherlands, ⁵Insitute of Human Genetics, Düsseldorf, Germany, ⁶Faculty of Medicine, Al-Ain, United Arab Emirates, ⁷Department of Medical Genetics, Erlangen, Poland, ⁸Department of Human Genetics, Nijmegen, The Netherlands, ⁹North Wales Clinical Genetics Service, Rhyl, United Kingdom, ¹⁰Genetic Medicine Central California, San Francisco, CA, United States, ¹¹IRCCS-CSS, Rome, Italy, ¹²Centre for Human-Genetics, Leuven, Belgium, ¹³Department of Clinical Genetics, Leicester, United Kingdom, ¹⁴Unité de Génétique Médicale, Beirut, Lebanon, ¹⁵Abteilung für Medizinische Genetik, Hamburg, Germany, ¹⁶Department of Clinical Biochemistry, Cambridge, United Kingdom, ¹⁷Department of Genetics, Tours, France, ¹⁸Department of Clinical Genetics, London, United Kingdom, ¹⁹Department of Medical and Molecular Genetics, London, United Kingdom, ²⁰Department of Pediatrics and Adolescent Medicine, Erlangen, Germany.

PL2.2 Meta-analysis of genome-wide association data and large-scale replication identifies several additional susceptibility loci for type 2 diabetes
E. Zeggini¹, R. Saxena², L. J. Scott³, B. F. Voight², for the DIAGRAM Consortium;
¹University of Oxford, Oxford, United Kingdom, ²Harvard and Massachusetts Institute of Technology, Cambridge, MA, United States, ³University of Michigan, Ann Arbor, MI, United States.

PL2.3 G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
S. M. Pasternack¹, I. von Kügelgen², K. Al Aboud³, Y. Lee^4,5, F. Rüschendorf⁵, K. Voss⁶, A. M. Hillmer⁷, G. J. Molderings², T. Franz⁸, A. Ramirez^9,10, P. Nürnberg^10,11, M. M. Nöthen^1,7, R. C. Betz¹;
¹Institute of Human Genetics, Bonn, Germany, ²Department of Pharmacology, Bonn, Germany, ³Department of Dermatology, Makkah, Saudi Arabia, ⁴Department of Pediatric Pneumology and Immunology, Berlin, Germany, ⁵Max Delbrück Center for Molecular Medicine, Berlin, Germany, ⁶Department of Human Genetics, Würzburg, Germany, ⁷Department of Genomics, Bonn, Germany, ⁸Department of Anatomy, Bonn, Germany, ⁹Institute of Human Genetics, Cologne, Germany, ¹⁰Center for Molecular Medicine Cologne, Cologne, Germany, ¹¹Cologne Center for Genomics, Cologne, Germany.

PL2.4 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
J. Gecz^1,2, L. Dibbens¹, P. Tarpey³, K. Hynes¹, M. A. Bayly¹, I. E. Scheffer⁴, J. Bomar⁵, L. Vandeleur¹, C. Shoubridge¹, Z. Afawi⁶, M. Y. Neufeld⁶, S. Kivity⁷, D. Lev⁸, T. Lerman-Sagie⁹, G. R. Sutherland¹, K. L. Friend¹, M. Corbett¹, D. H. Geschwind⁵, P. Thomas², S. Ryan¹⁰, S. McKee¹¹, S. Berkovic⁴, A. Futreal³, M. R. Stratton³, J. C. Mulley¹;
¹Womens and Childrens Hospital, North Adelaide, Australia, ²University of Adelaide, Adelaide, Australia, ³Wellcome Trust Sanger Institute, Cambridge, United Kingdom, ⁴University of Melbourne, Melbourne, Australia, ⁵University of California at Los Angeles, Los Angeles, CA, United States, ⁶Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, ⁷Schneider Children’s Medical Centre, , Petaq Tikvah, Israel, ⁸Wolfson Medical Centre, , Holon, Israel, ⁹Wolfson Medical Centre, Holon, Israel, ¹⁰AstraZeneca, Wilmington, DE, United States, ¹¹Belfast City Hospital, Belfast, United Kingdom.

PL2.5 Genomic structural variation profiles of world human populations
L. Bassaganyas^1,2,3, M. Garcia^1,3, M. Montfort^1,4,3, L. Armengol^1,3, X. Estivill^1,4,3;
¹Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain, ²Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain, ³Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Catalonia, Spain, ⁴National Genotyping Center (CeGen), Barcelona, Catalonia, Spain.

PL2.6 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
A. Michalk¹, S. Stricker², J. Becker³, R. Rupps⁴, T. Pantzar⁵, J. Miertus⁶, G. Botta⁷, V. G. Naretto⁸, C. Janetzki¹, N. Yaqoob⁹, C. Ott¹, D. Seelow¹, D. Wieczorek¹⁰, B. Fiebig¹¹, B. Wirth³, M. Hoopmann¹², M. Walther¹³, F. Koerber¹⁴, M. Blankenburg¹⁵, S. Mundlos^1,2, R. Heller³, K. Hoffmann^1,2;
¹Charite University Medicine, Berlin, Germany, ²MPI Molecular Genetics, Berlin, Germany, ³Institute of Human Genetics, University Hospital, Cologne, Germany, ⁴Departments of Medical Genetics and Pathology, BCCH Children’s Hospital, Vancouver, BC, Canada, ⁵Charite University MedicineDepartments of Medical Genetics and Pathology, BCCH Children’s Hospital, Vancouver, BC, Canada, ⁶Medical Genetics Dept., St. Elizabeth Cancer Institute, Bratislava, Slovakia, ⁷Azienda Ospedaliera San Giovanni Battista, Torino, Italy, ⁸Dept. of Pathology, "OIRM-S.Anna" Hospital, Torino, Italy, ⁹Consultant Histopathologist, King Abdul Aziz Specialist Hospital, Taif, Saudi Arabia, ¹⁰Institute of Human Genetics, University of Duisburg-Essen, Essen, Germany, ¹¹Centre for Human Genetics, University hospital, Regensburg, Germany, ¹²Prenatal Medicine, Department of Gynecology and Obstetrics, University Hospital, Cologne, Germany, ¹³Medical Centre of Rheumatology, Berlin-Buch, Germany, ¹⁴Department of Paediatric Radiology, University Hospital, Cologne, Germany, ¹⁵Department of Neuropediatrics, Vestische Kinder- und Jugendklinik, University of Witten/Herdecke, Datteln, Germany.

PL2.7 Plastin 3 protects against spinal muscular atrophy (SMA) - the first report of a fully protective modifier of a Mendelian disease
B. Wirth^1,2,3, S. Kröber^1,2, M. L. McWhorter⁴, W. Rossoll⁵, S. Müller³, M. Krawczak⁶, G. J. Bassell⁵, C. E. Beattie⁴, G. E. Oprea^1,2,3;
¹Institute of Human Genetics, University Hospital, Cologne, Germany, ²Institute of Genetics , University of Cologne, Cologne, Germany, ³Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany, ⁴Centre for Molecular Neurobiology, The Ohio State University, Columbus, OH, United States, ⁵Emory University School of Medicine, Department of Cell Biology, Atlanta, GA, United States, ⁶Institute of Medical Informatics and Statistics, Christian-Albrechts University of Kiel, Kiel, Germany.
 

• S01.1 Dissection of structural variation in common human disease (30')
  Xavier Estivill, Barcelona, Spain
   
• S01.2 Gene copy number variation and common human disease (30')
  Tim Aitman, London, United Kingdom
   
• S01.3 Beta-defensin copy number variation: measurement, diversification and association with psoriasis (30')
  John Armour, Nottingham, United Kingdom

• S02.1 Mutation specific therapy: The CF experience (30')
  Eitan Kerem, Jerusalem, Israel
   
• S02.2 Synthetic lethal approaches to the development of new therapies for cancer (30')
  Alan Ashworth, London, United Kingdom
   
• S02.3 Small-molecule therapy for Cystic Fibrosis (30')
  Alan Verkman, San Francisco, CA, United States

• S03.3 Personalized Medicine and Genetic Services: The US Model (15')
  Mara Aspinall, Westborough, MA, United States
   
• S03.4 The Clinical Use of Genetic and Molecular Biomarkers: A Public Health Perspective (20')
  Ron Zimmern, Cambridge, United Kingdom
  
  Please note that S. Kessler and A. Christianson had to cancel their participation

• S04.1 microRNA Regulation of Cardiac Development and Disease (30')
  Deepak Srivastava, San Francisco, United States
   
• S04.2 A rapidly evolved RNA gene may have played a role in the evolution of the cerebral cortex (30')
  David Haussler, Santa Cruz, CA, United States
   
• S04.3 The RNAi strategy in Cancer: Towards the Achilles Heal of Cancer (30')
  Roderick Beijersbergen, Amsterdam, The Netherlands

• C01 Clinical Genetics I
  Chair: A. Renieri
   

• C02 Molecular and biochemical basis of disease - Skeletal dysplasia and cardiovascular defects
  Chair: K. Avraham
   

• C03 Genetic analysis, linkage, and association
  Chair: J. Beckmann
   

• C04 Molecular Cytogenetics
  Chair: A. Raymond
   

• C05 Genomics, technology, bioinformatics
  Chair: A. Metspalu

• S05.1 Guidelines for the clinical management of Lynch syndrome and adenomatous polyposis (30')
  Hans F. Vasen, Leiden, The Netherlands
   
• S05.2 Evaluation of breast and ovarian cancer screening programmes in BRCA1 and BRCA2 mutation carriers : the UK, Norwegian and Dutch experience (30')
  D. Gareth Evans, Manchester, United Kingdom
   
• S05.3 Managing genetic risk: Some issues for BRCA1 and BRCA2 mutation carriers (30')
  Nina Hallowell, Edinburgh, United Kingdom

• S06.1 Common, low-penetrance breast cancer susceptibility alleles: the clinical relevance (30')
  Paul Pharoah, Cambridge, United Kingdom
   
• S06.2 What GWAS have taught us about the genetic architecture and pathogenesis of the inflammatory bowel diseases (IBD) (30')
  John Rioux, Montréal, Canada
   
• S06.3 Title to be announced (30')
  Goncalo Abecasis, Ann Arbor, MI, United States

• S07.1 Genomic encoding of positional identity (30')
  Howard Y. Chang, Stanford, United States
   
• S07.2 Rapid high-resolution identification of balanced genomic rearrangements by 4C technology (30')
  Wouter de Laat, Rotterdam, The Netherlands
   
• S07.3 Integrative genomic approaches for the identification of regulatory variation underlying disease risk (30')
  John Blangero, San Antonio, TX, United States

• S08.1 Deciphering Developmental Disorders (30')
  Nigel Carter, Cambridge, United Kingdom
   
• S08.2 Processes of allelic and ectopic recombination in the human genome (30')
  Sir Alec Jeffreys, Leicester, United Kingdom - Interview
   
• S08.3 Chromosome rearrangements and fusion genes in breast and other epithelial cancers (30')
  Paul Edwards, Cambridge, United Kingdom

• PL3.1 Systematic resequencing of the coding exons of the X chromosome in X-linked Mental Retardation (30')
  Michael Stratton, Cambridge, United Kingdom
   
• PL3.2 Cap-Analysis Gene Expression (CAGE) analysis of transcriptional complexity and regulation (30')
  Piero Carninci, Yokohama, Japan
   
• PL3.3 Experiences with Phantom3 (30')
  Ivo G. Gut, Evry, France

WS07. Community Genetics, Martina Cornel, Ulf Kristoffersson

• C06 Clinical Genetics II
  Chair: N. Akarsu
   

• C07 Molecular and biochemical basis of disease - Neurogenetics
  Chair: N.N.
   

• C08 Genetic analysis, linkage, and association - Genomewide association studies
  Chair: F. Clerget-Darpoux
   

• C09 Preimplantation and prenatal genetic diagnosis
  Chair: G. Novelli
   

• C10 Cancer genetics
  Chair: J. Burn

• S09.1 Intracelluar Traficking and Neurodegeneration - The SCA1/ataxin-1 Story (30')
  Harry Orr, Minneapolis, MN, United States
   
• S09.2 Polyneuropathies and axonal trafficking (30')
  Klaus-Armin Nave, Goettingen, Germany
   
• S09.3 'Neurotic Yeast' and the Molecular Basis of Parkinson's Disease (30')
  Tiago F. Outeiro, Lisbon, Portugal

• S10.1 In utero stem cell transplantation: where are we now? (30')
  The-Hung Bui, Stockholm, Sweden
   
• S10.2 Non-invasive prenatal diagnosis of Down syndrome: a challenging puzzle in circulating fetal nucleic acid research (30')
  Rossa Chiu, Hong Kong, SAR of China
   
• S10.3 The regulation of prenatal and preimplantation genetic diagnosis in the UK (30')
  Emily Jackson, London, United Kingdom

• S11.1 Peroxisomal disorders (30')
  Hans Waterham, Amsterdam, The Netherlands
   
• S11.2 Diagnostic tools in mitochondrial respiratory chain defects (30')
  Orly Elpeleg, Jerusalem, Israel
   
• S11.3 Glutaryl-CoA dehydrogenase deficiency: biochemical and molecular aspects (30')
  Antonia Ribes, Barcelona, Spain

• S12.1 Genetical Genomics Networks (30')
  Ritsert Jansen, Groningen, The Netherlands
   
• S12.2 Metabolic networks in biology and diseases (30')
  Zoltan Oltvai, Pittsburgh, PA, United States
   
• S12.3 Reverse engineering the transcriptional networks  (30')
  Diego diBernardo, Naples, Italy

• S13.1 Dysregulated RAS signaling in Noonan syndrome and related disorders (30')
  Marco Tartaglia, Rome, Italy
   
• S13.2 The molecular dissection of Joubert syndrome and allied ciliopathies (30')
  Ronald Roepman, Nijmegen, The Netherlands
   
• S13.3 Alterations of FGF signalling in LADD syndrome (30')
  Bernd Wollnik, Cologne, Germany

• S14.1 Molecular mechanisms of cellular senescence (30')
  Fabrizio d'Adda di Fagagna, Milan, Italy
   
• S14.2 Cornelia de Lange Syndrome and the Cohesinopathies: Developmental Repercussions of Cohesin Dysfunction (30')
  Ian Krantz, Philadelphia, PA, United States
   
• S14.3 Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks (30')
  Martin Digweed, Berlin, Germany

• S15.1 Genomic Perspectives on Human Origins (30')
  Svante Pääbo, Dresden, Germany
   
• S15.2 Human genetic population structure: Patterns and underlying processes (30')
  Guido Barbujani, Ferrara, Italy
   
• S15.3 From genetic diversity to the understanding of basic biological function: towards evolutionary systems biology (30')
  Jaume Bertranpetit, Barcelona, Spain

• C11 Clinical Genetics III
  Chair: G. Mathijs
   

• C12 Molecular and biochemical basis of disease
  Chair: N. Lévy
   

• C13 Normal variation, population genetics, genetic epidemiology
  Chair: T. Meitinger
   

• C14 Genetic counselling, education, genetic services, and public policy
  Chair: M.Soller
   

• C15 Therapy for genetic disease
  Chair: G.J.B. van Ommen

• PL4.1 Systems Biology and Systems Medicine
  Leroy Hood, Seattle, WA, United States - more information & interview

Journal Awards
Young Investigator Awards

PL5.1 ESHG Award Lecture

Closing

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