Monday, June 2, 2014 | ||
08.30 - 10.00 | Concurrent Symposia S11 - S14 | |
S11. Rare copy number variants in common traitsS11.1 Copy number alterations in skin disorders, Xue Zhang, China S11.2 Congenital heart disease, Bernard Keavney, United Kingdom S11.3 Copy number variants are a common cause of short stature, Christian Thiel, Germany S12. Epigenetic basis of diseaseS12.1 The Epigenetic Basis of Common Human Disease, Andrew P. Feinberg, United States S12.2 Intergenerational epigenetic programming in a mouse model of undernutrition, Anne Ferguson-Smith, United Kingdom S12.3 Cancer genetics and epigenetics: Two Sides of the Same Coin?, Peter A. Jones, United States S13. Non-invasive prenatal testing, joint with EMPAGS13.1 State of the Art of Non-Invasive Prenatal Testing, Lyn S Chitty, United Kingdom S13.2 Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome, Diana W. Bianchi, United States S13.3 Clinical and social implications of NIPT, Kelly Ormond, United States S14. Rapid genome diagnosticsS14.1 Developments in rapid DNA sequencing technology, John Tyson, United Kingdom S14.2 DNA sequencing in neonatal intensive care units, Stephen Kingsmore, United States S14.3 Impact of rapid DNA sequencing on diagnostic and public health microbiology, Claudio U. Köser, United Kingdom | ||
08.30 - 10.00 | Educational Session 7 | |
ES7. From mutation identification to therapyES7.1 From mutations in the few to drugs for the many, Michael R. Hayden, Israel ES7.2 Genetic, cell biological and clinical interrogation of disease-causing CFTR mutations informs strategies for future drug discovery, Christine Bear, Canada | ||
| 10.00 - 10.30 | Coffee Break, Free Poster Viewing, Exhibition | |
10.30 - 11.30 | Poster Viewing with Authors (Even poster numbers) | |
| 11.30 - 13.30 | Free Poster Viewing, Exhibition, Lunch | |
11.45 - 13.15 | Corporate Satellites | |
13.30 - 15.00 | Concurrent Sessions C13 - C17 | |
C13. Innovation in genetic services | ||
| 15.00 - 15.30 | Vitamin Break, Free Poster Viewing, Exhibition | |
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15.30 - 17.00 | Workshops W08 - W13 | |
WS08: Dysmorphology 2* (Organisers: Dian Donnai & J. Clayton-Smith) WS09: Genome Browser UCSC* (Organiser: Robert Kuhn) WS10: Analysis, interpretation and reporting of array data* (Organisers: Nicole de Leeuw & Conny van Ravenswaaij-Arts) WS11: Clinical Cancer Genetics Club* (Organisers: Maurizio Genuardi & Dominique Stoppa-Lyonnet) WS12 Preconception and prenatal screening (Organiser: Milan Macek Jr.) WS13: Next Generation Sequencing* (Organiser: Joris Veltman) *Interactive workshops - your input is sollicited. See details for more information. | ||
15.30 - 17.00 | Corporate Satellites | |
| 17.00 - 17.30 | Coffee Break, Exhibition, Poster Removal | |
17.30 - 19.00 | Concurrent Symposia S15 - S19 | |
S15. Networks and pathways in genetic diseasesS15.1 Signaling networks in the auditory sensory cells unveiled by hereditary deafness, Christine Petit, France S15.2 Genes and cellular pathway of Fanconi's anemia, Jordi Surrallés, Spain S15.3 Analysis of signalling pathways in Tbx1 mutants identifies a novel mechanism in coronary artery Morphogenesis, Peter J. Scambler, United Kingdom S16. The new RNA worldS16.1 SINEUPs: a new functional class of antisense non-coding RNAs that activate translation, Stefano Gustincich, Italy S16.2 Molecular function of the repetitive (epi)genome in normal physiology and in disease, Davide Gabellini, Italy S16.3 The SMN complex: RNA processing and motor neuron disease , Livio Pellizoni, United States S17. Tumour heterogeneityS17.1 Cancer genetic heterogeneity: implications for therapy responsiveness and acquisition of therapy resistance, Sandra Misale, Italy S17.2 Non-cell autonomous interactions promote sub-clonal heterogeneity, Andriy Marusyk, United States S17.3 Circulating tumor cells: Detection, biology and clinical implications, Klaus Pantel, Germany S18. A novel class of disease of lipid metabolismS18.3 Update on lipidomic approaches in disorders affecting complex lipids metabolism: the example of cardiolipin, Frederic M. Vaz, The Netherlands S18.2 Disorders of phospholipids, sphingolipids and fatty acids biosynthesis, Fanny Mochel, France S18.1 An overview of disorders of glycolipids and glycosylphosphatidylinositol anchor, Hudson H. Freeze, United States S19. Three sequencing approaches in complex diseaseS19.1 Whole genome sequencing of 4000 individuals provides insight into genetic architecture of complex traits, Nicole Soranzo, United Kingdom S19.2 Using transcriptome sequencing to understand mechanisms of disease, Tuuli Lappalainen, United States S19.3 High resolution genetic analysis to detect variants associated with quantitative traits and diseases in the founder Sardinian population, Francesco Cucca, Italy
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17.30 - 19.00 | Educational Session 8 | |
ES8. Current developments in legal aspects of genetics: Untangling the law and what it means for youES8.1 New Proposals for the Regulation of in vitro Diagnostic Devices (IVDs), David Barton, Ireland ES8.2 Data protection regulation, David Townend, The Netherlands
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19.00 - 20.30 | Corporate Satellites | |
20.30 | ESHG Networking Party (at own expense) | |
See detailed programme
See details