The European Society
of Human Genetics

Monday, June 25

Monday, June 25, 2012

08.30 - 10.00

Concurrent Symposia S09 - S12

S09. Cancer genetics    

S09.1 Cancer immunoediting, Michele Teng, Australia

S09.2 Paracrine and Autocrine Signals Induce and Maintain Mesenchymal and Stem-Cell States in the Breast , Christina Scheel, Munich, Germany

S09.3  Microsatelite instability andcancers: From biology to clinics, Alex Duval, France

S10. De novo mutations: A common cause of common disease?    

S10.1 Estimation of the human mutation rate by whole-genome sequencing, Lynn Jorde, United States

S10.2 Fragile genomes generate more de novo mutations, Evan Eichler, United States

S10.3 De Novo Mutations in Neurodevelopmental disorders , Simon Girard, Canada

S11. Primary microcephaly    

S11.1 Genetic basis of primary microcephaly, C Geoffrey Woods, United Kingdom 

S11.2 Clinical aspects of primary microcephaly, Alain Verloes, France

S11.3 DNA repair and microcephaly, Bernd Wollnik, Germany

S12. Molecular basis of Lymphedema    

S12.1 Molecular classification of primary lymphedema, Pia Ostergaard, United Kingdom 

S12.2 Mouse models of lymphedema, Tatyana Petrova, Switzerland

S12.3 Therapeutic trials in lymphedema, Anne Saaristo, Finland

08.30 - 10.00

Educational Session 6


ES6. Neuromuscular diseases

ES6.1 ALS, Mario Sabatelli, Italy

ES6.1 Hereditery neuropathies, Vincent Timmermann, Belgium

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 7

ES7. Next generation sequencing goes diagnostics: First experiences

ES7.1 CLINseq, Leslie Biesecker, United States

ES7.2 BRCA1 and 2 diagnostics, Gert Matthijs, Belgium

11.40 - 13.10

Corporate Satellites


Abbott Molecular

Agilent Technologies


13.15 - 14.45

Concurrent Sessions C07 - C12

C07. NGS Going Clinic

C08. Functional Genomics

C09. Clinical Genetics of Bone and Connective Tissue Disorders

C10. Clinical Aspects in Cancer Genetics

C11. Neurological and Sensory Diseases: From Gene to Function

C12. Metabolic Diseases: From Gene to Function

See session details

14.45 - 15.15Fitness Break, Free Poster Viewing, Exhibition


15.15 - 16.45

Workshops W11 - W16

Workshop 11: Dysmorphology 2 (Dian Donnai & Jill Clayton-Smith)
Workshop 12: Predictivity, Genetic Testing and Insurance (Pascal Borry)
Workshop 13: Dilemmas in HD practice (joint with EMPAG) (Rhona Macleod, D. Craufurd)
Workshop 14: Progress in understanding of our genome through sharing of data - Debate (Joris Veltman)   
Workshop 15: USCS Genome Browser II (Robert Kuhn)

 See Workshop programme details

15.15 - 16.45

Corporate Satellites

Life Technologies


16.45 - 17.15Coffee Break

17.15 - 18.45

Concurrent Symposia S13 - S16

S13. Intellectual disability: genes, proteins and model organisms    

S13.1 Exome sequencing in sporadic autism spectrum disorders, Jay Shendure, United States

S13.2 Autism genetics: at the crossroads of genomics and cognitive neuroscience, Daniel H. Geschwind, United States

S13.3 Large-scale dissection of molecular networks and mechanisms underlying Intellectual Disability Disorders, Annette Schenck, The Netherlands

S14. From DNA sequence to genome function    

S14.1 Identification of cis- and trans-regulatory variation modulating microRNA expression levels, Stylianos Antonarakis, Switzerlands

S14.2 Long noncoding RNAs with enhancer-like function in human cells, Roderic Guigo, Spain

S14.3 Transcribed dark matter: meaning or myth?, Chris Ponting, United Kingdom      

S15. Bone diseases and therapeutic perspectives    

S15.1 LRP5 in bone, Matthew L. Warman, United States 

S15.2 Acromelic dysplasia and TGFbeta signaling, V. Cormier-Daire, France

S15.3 Osteogenesis imperfecta, Brendan Lee, United States    

S16. Debate on Informed Consent in New Technologies (joint with EMPAG)

S16.1 How to inform individuals of the relevance of incidental WGA findings?, Christian Netzer, Germany

S16.2 Biobanks: should individuals be informed of findings from biobank studies? Can informed consent be realized?, Anne Cambon-Thomsen, France

S16.3 Informed consent in non-invasive prenatal diagnosis, Zuzana Deans, United Kingdom

17.15 - 18.45

Educational Session 8

ES8. Trinucleotid repeat disorders

ES8.1 Huntington, Alexandra Durr, France

ES8.2 Myotonic dystrophy, Darren Monckton, United Kingdom 


ESHG Congress Party

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