The European Society
of Human Genetics

Monday, June 10

Monday, June 10, 2013

08.30 - 10.00

Concurrent Symposia S09 - S12

S09. New therapeutic highlights in rare diseases    

S09.1 Adaptive immunodeficiency and gene therapy treatment, Alain Fischer, France

S09.2 Antisense therapy in SMA, Adrian Krainer, United States

S09.3  Stem-cell gene therapy for the Wiskott-Aldrich Syndrome, Christoph Klein, Germany

S10. Reproductive genetics and newborn screening    

S10.1 Noninvasive whole genome sequencing, Stephen Quake, United States

S10.2 New approaches in preimplantation screening, Dagan Wells, United Kingdom

S10.3 Newborn screening; what is possible, what do we want?, Bridget Wilcken, Australia

S11. Animal Models for Human Diseases    

S11.1 Mice and Down Syndrome, Yann Hérault, France 

S11.2 Modelling human diseases in worm, Thorsten Hoppe, Germany

S11.3 Modelling human diseases in flies, Bassem Hassan, Belgium

S12. Judging our genes    

S12.1 The geneticist's perspective, Andrew Read, United Kingdom 

S12.2 Genetics in the courtroom: narrowing down the free-will compass? A social and ethical perspective, Mairi Levitt, United Kingdom

S12.3 Narrowing down the free-will compass? A legal perspective, Amedeo Santosuosso, Italy

08.30 - 10.00

Educational Session 6


ES6. Retinal dystrophies: news and views

ES6.1 Inherited retinal dystrophies: insights & challenges behind the rainbow, Frans P. M. Cremers, The Netherlands

ES6.2 Inherited retinal disease - management and therapies, Andrew Webster, United Kingdom

10.00 - 10.30

Coffee Break, Free Poster Viewing, Exhibition


10.30 - 11.30

Poster Viewing with Authors (Even poster numbers)

11.30 - 13.15Free Poster Viewing, Exhibition, Lunch

11.40 - 13.10

Educational Session ES7-ES8

ES7. NGS in the clinic

ES7.1 Introducing next generation technology to clinical scientists, Caroline Wright, United Kingdom

ES7.2 Bioinformatic challenges of applying NGS in the clinic, Christian Gilissen, The Netherlands

ES8. How to get published in the European Journal of Human Genetics (EJHG)

GertJan B. van Ommen, The Netherlands,
other speakers to be decided

11.40 - 13.10

Corporate Satellites


13.15 - 14.45

Concurrent Sessions C08 - C14

C08. Intellectual disability: Gene discovery and dysfunction

C09. Population-based sequencing

C10. Genetic Counselling, Education and Public Services

C11. Molecular mechanisms in tumorigenesis

C12. Connective tissue disorders: Gene identification

C13. Neurodegenerative disorders: From gene discovery to therapy

C14 Sensory disorders and Immunological disorders

View details of concurrent sessions

14.45 - 15.15Vitamin Break, Free Poster Viewing, Exhibition


15.15 - 16.45

Workshops W10 - W14

Workshop 10: Dysmorphology 2 (Dian Donnai & Jill Clayton-Smith) - View details
Workshop 11:Prenatal diagnostic (Milan Macek & Joris Vermeesch) - View details
Workshop 12: DNA Dysmorphology (Hans Scheffer, Ove Bruland & BjørnIvar Haukanes) - View details
Workshop 13: Community genetics (Martina Cornel, Ulf Kristoffersson) - View details
Workshop 14: UCSC Genome Browser II (Robert Kuhn) - View details

15.15 - 16.45

Corporate Satellites

16.45 - 17.15Coffee Break

17.15 - 18.45

Concurrent Symposia S13 - S16

S13. Stem cells and IPS cells in genetic diseases    

S13.1 Human pluripotent stem cells for modeling genetic diseases, Oliver Brüstle, Germany

S13.2 iPS for modelling diseases and drug screening : the example of Steinertmyotonic dystrophy, Cécile Martinat, France

S13.3 IPS cells for targeted gene correctionLudovic Vallier, United Kingdom

S14. Chromosomal (in)stability

S14.1 DNA repair and microcephaly, Mark O'Driscoll, United Kingdom

S14.2 Consequences of balanced translocations in neurodevelopment, Cynthia Morton, United States

S14.3 Chromosomal mosaicisms in aging and cancer, Jan Dumanski, Sweden   

S15. The interrelated world of drugs and genes    

S15.1 Drugs and genes - an overview, Ann Daly, United Kingdom

S15.2 An immunological basis for pharmacogenetic associations in the MHC, James McCluskey, Australia

S15.3 Genetic risk mirrors outcome of anti-TNF therapy in Multiple Sclerosis, Lars Fugger, United Kingdom    

S16. The expanding world of the primary cilia    

S16.1 Extreme ciliary phenotypes, Tania Attie, France 

S16.2 Primary cilia -kidney disease - DNA Repair, Thomas Benzing, Germany

S16.3 Moving into and inside cilia: the awesome power of diffusion, Maxence Nachury, United States 

17.15 - 18.45

Educational Session 9

ES9. Where do we come from?

ES9.1 A genetics history of our species, Évelyne Heyer, France

ES9.2 Tracing back geographic origine and phenotypes using genetic data, Manfred Kayser, The Netherlands


ESHG Congress Party

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