The European Society
of Human Genetics

Saturday, June 23

Saturday, June 23, 2012

08.30Registration opens
 

11.45 - 13.15

Corporate Satellites

BIOBASE

CLC bio

Integrated DNA Technologies - IDT

Integromics

Oxford Gene Technology

 

14.00 - 15.30

Educational Sessions 1-3

ES1. Complex diseases

ES1.1 Molecular Genetic Analysis in Complex Diseases, Markus Nöthen, Germany 

ES1.2 Turning discovery into prediction, Cornelia van Duijn, The Netherlands

ES2. Skin Disease

ES2.1 Blistering Diseases, Leena Bruckner-Tuderman, Germany

ES2.2 Ichtyosis, Judith Fischer, Germany

ES3. How to get published in EJHG

ES3.1 Gert-Jan van Ommen, The Netherlands
Further speakers to be announced

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

 

BlueGnome

Complete Genomics

Multiplicom

Pacific Biosciences

PerkinElmer

 

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

 

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

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ESHG 2012