Saturday, June 23, 2012 | |
08.30 | Registration opens |
11.45 - 13.15 | Corporate Satellites |
BIOBASECLC bioIntegrated DNA Technologies - IDTIntegromicsOxford Gene Technology | |
14.00 - 15.30 | Educational Sessions 1-3 |
ES1. Complex diseasesES1.1 Molecular Genetic Analysis in Complex Diseases, Markus Nöthen, Germany ES1.2 Turning discovery into prediction, Cornelia van Duijn, The Netherlands ES2. Skin DiseaseES2.1 Blistering Diseases, Leena Bruckner-Tuderman, Germany ES2.2 Ichtyosis, Judith Fischer, Germany ES3. How to get published in EJHGES3.1 Gert-Jan van Ommen, The Netherlands | |
14.00 - 15.30 | Workshop 01 |
WS01. Cascade screening: what about relatives' right (not) to know? (Guido de Wert) | |
See Workshop programme details | |
14.00 - 15.30 | Corporate Satellites |
| BlueGnomeComplete GenomicsMultiplicomPacific BiosciencesPerkinElmer |
16.00 - 16.30 | Opening - Welcome Adresses |
16.30 - 18.00 | PL1 Opening Plenary Session |
PL1.1 The Regulome - the Next Frontier in Human Genetics, Stefan Mundlos, Germany PL1.2 Oncogenomics of pediatric brain tumors: From molecular profiling towards clinical Translation, Peter Lichter, Germany PL1.3 Myocardial infarction: common disease, common variants, common mechanisms, Heribert Schunkert, Germany | |
18.00 - 18.30 | Coffee Break |
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18.30 - 20.00 | Plenary Session PL2: What's New? |
PL2.1 Genome sequencing of childhood medulloblastoma brain tumors links chromothripsis with TP53 mutations - a discovery with clinical implications J. O. Korbel, P. Lichter, S. Pfister PL2.2 KLHL3 and Cullin-3 mutations cause Familial Hyperkalemic Hypertension by impairing ion transport in the distal nephron H. Louis dit Picard, J. Barc, D. Trujillano, S. Miserey-Lenkei, N. Bouatia-Naji, O. Pylypenko, G. Beaurain, A. Bonnefond, C. Simian, E. Vidal-Petiot, C. Soukaseum, P. Bruneval, X. Estivill, P. Froguel, J. Hadchouel, J. Schott, X. Jeunemaitre PL2.3 Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion S. Lohan, S. C. Doelken, S. Stricker, C. W. Ockeloen, R. Soares Thiele de Aguiar, K. Lezirovitz, R. C. Mingroni Netto, A. Jamsheer, H. Shah, I. Kurth, R. Habenicht, M. Warman, K. Devriendt, U. Kordaß, M. Hempel, A. Rajab, O. Mäkitie, M. Naveed, U. Radhakrishna, S. E. Antonarakis, D. Horn, S. Mundlos, E. Klopocki PL2.4 A novel molecular and functional mechanism predisposing to ototoxicity E. Pohl, N. Offenhäuser, F. F. J. Kersten, A. Üzümcü, Y. Li, A. K. Rzadzinska, O. Uyguner, G. Yigit, B. Lorente, G. Nürnberg, M. Emiroglu, H. Kayserili, B. Karaman, I. del Castillo, S. Basaran, M. Y. Apak, P. Nürnberg, T. Moser, C. Kubisch, K. P. Steel, P. P. Di Fiore, H. Kremer, B. Wollnik PL2.5 Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis M. C. Castano-Betancourt, F. Cailotto, H. Kerkhof, F. M. Cornelis, S. A. Doherty, D. J. Hart, A. Hofman, F. P. Luyten, R. A. Maciewicz, M. Mangino, S. Metrustry, K. Muir, M. J. Peters, F. Rivadeneira, M. Wheeler, W. Zhang, N. Arden, T. D. Spector, A. G. Uitterlinden, M. Doherty, R. J. Lories, A. M. Valdes, J. B. Van Meurs PL2.6 Insights into tissue-specific mechanisms of gene regulation involving genetic variants and DNA methylation M. Gutierrez-Arcelus, S. B. Montgomery, T. Lappalainen, H. Ongen, A. Yurovsky, J. Bryois, A. Buil, T. Giger, L. Romano, A. Planchon, E. Falconnet, I. Padioleau, C. Borel, A. Letourneau, P. Makrythanasis, M. Guipponi, C. Gehrig, S. E. Antonarakis, E. T. Dermitzakis | |
20.00 - 21.30 | Opening Networking Mixer |