The European Society
of Human Genetics

Sunday, June 9

Sunday, June 9, 2013

08.30 - 10.00

Concurrent Symposia S01 - S04

S01. Chromatin organisation and gene expression    

S01.1 Evolutionary  pressures and gene expression regulation, Yoav Gilad, United States

S01.2 Chromosomal rearrangements and gene expression, Alexandre Reymond, Switzerland

S01.3 Variation in Gene Regulation, Chromatin States and Protein Levels across Human Individuals and PopulationsMike Snyder, United States

S02. From genes to treatment in multifactorial diseases

S02.1 The search for bone and joint genes, and what to do with them?, André G. Uitterlinden, The Netherlands 

S02.2 Inflammatory bowel disease: From genes to clinical impact?, Carl Anderson, United Kingdom

S02.3 From genetics to translation in SCD, Rob Graham, United States

S03. Gene regulation in cancer    

S03.1 Lynch syndrome as a model of mutations and epimutations in cancer, Päivi Peltomäki, Finland

S03.2 Epigenetic programming of the cancer phenotype, Jean-Pierre Issa , United States

S03.3 Insights into oncogenesis from cancer predisposition genes, Nazneen Rahman, United Kingdom

S04. Emerging topics in neurobiology

S04.1 The role of microglia in synaptogenesis, Cornelius Gross, Italy

S04.2 The role of glia in neurodegenerative diseases, Don Cleveland, United States

S04.3 Molecular genetics of axon degeneration, Michael Coleman, United Kingdom

08.30 - 10.00

Educational Session 3

ES3. Tweeting about Genomics

ES3.1 Understanding Genomics. Trends in Science Communication, Anne Dijkstra, The Netherlands

ES3.2 Science in the media. Lost in translation, David Secko, Canada

10.00 - 10.30

Coffee Break, Free Poster Viewing, Exhibition


10.30 - 11.30

Poster Viewing with Authors (Odd poster numbers)


11.30 - 13.15

Free Poster Viewing, Exhibition, Lunch as of 12.15 hrs


11.40 - 13.10

Educational Session 4

ES4. Cancer risk in developmental syndromes

ES4.1 Cancer risk in overgrowth syndromes, Andrea Riccio, Italy

ES4.2 Cancer risk in RASopathies, Karen Gripp, United States

11.40 - 13.10

Workshops WS01-WS03

WS01. Next Generation sequencing in clinical practice - Filtering and reporting (Joris Veltman & Joris Vermeesch) - View details

WS02. Debate: Hot topics in preimplantation genetic testing (The-Hung Bui) - View details

WS03. UCSC Genome Browser I (Robert Kuhn) - View details

11.40 - 13.10

Corporate Satellites


13.15 - 14.45

Concurrent Sessions C01 - C07

C01. Structural variation and de novo mutations

C02. Genotype phenotype correlation

C03. Prenatal diagnosis

C04. Cancer predisposition

C05. Functional Genomics

C06. Neuromuscular disorders: From genes and modifiers to function and therapy

C07. Metabolic and mitochondrial disorders

View details of concurrent sessions

14.45 - 15.15Vitamin Break, Free Poster Viewing, Exhibition


15.15 - 16.45

Workshops WS04 - WS09

WS04. Dysmorphology 1 (Dian Donnai & Jill Clayton-Smith) - View details
WS05. Analysis, interpretation and reporting of array data (Nicole de Leeuw & Conny van Ravenswaaij-Arts) - View details
WS06. Clinical Cancer Genetics Club (Maurizio Genuardi & Dominique Stoppa-Lyonnet) - View details
WS07. Quality assurance (Els Dequeker, Mike Morris) - View details
WS08. Biomedical Data Analysis with Galaxy (Anton Nekrutenko & Enis Afgan) - View details
WS09. Inequalities in Genetic Services (Stanislas Lyonnet & Jörg Schmidtke) - View details

15.15 - 16.45

Corporate Satellites

16.45 - 17.15Coffee Break, Free Poster Viewing, Exhibition

17.15 - 18.45

Concurrent Symposia S05 - S08

S05. Interpreting NGS data    

S05.1 Analytical challenges of using next-generation sequencing to unlock complex disease, Mark Daly, United States

S05.2 Diagnostic exome sequencing in genetic diseases, Lisenka Vissers, The Netherlands

S05.3 Prioritizing disease-causing variation by genomic data fusion, Yves Moreau, Belgium

S06. Cancer genetics     

S06.1 Identification of the gene for mixed polyposis syndrome: the end of a 50-year journey, Ian Tomlinson, United Kingdom

S06.2 The role of IL7R in childhood T-cell acute lymphoblastic leukemia, João Taborda Barata, Portugal

S06.3 Exosomes in cancer-cell communication, dissemination and therapy-resistence, Lorraine O'Driscoll, Ireland

S07. Genetics of skin diseases and new therapies    

S07.1 iPS and their therapeutic potentiel for keratinizing disorders, Dennis Roop, United States

S07.2 Netherton syndrome and links to eczema, Alain Hovnanian, France

S07.3 Artificial Skin, Marcela del Rio, Spain       

S08. Evolution of organs     

S08.1 Dissecting the effects of selection in the human genome: the case of immunity to infection, Luis Quintana-Murci, France

S08.2 Gene dosage sensitivity and copy-number evolution, Aoife McLysaght, Ireland

S08.3 Evolution of vision, Detlef Arendt, Germany

17.15 - 18.45

Educational Session 5

ES5. Epilepsies

ES5.1 Spectrum of monogenic forms and clinical importance of de novo mutations, Stéphanie Baulac, France

ES5.2 The role of genetic susceptibility factors in epilepsy and their clinical relevance , Ingo Helbig, Germany


18.45 - 20.15

Corporate Satellites


19.00 - 20.00

ESHG Membership Meeting

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