Sunday, June 1, 2014 | ||
08.30 - 10.00 | Concurrent Symposia S01 - S05 | |
S01. Towards Genomic Personalised MedicineS01.1 From rare disease to management of common disorders, Marshall Summar, United States S01.2 Breast cancer genes: beyond BRCA1 and BRCA2, Paul Pharoah, United Kingdom S01.3 Age-related Macular Degeneration, Caroline Klaver, The Netherlands S02. Functional genomicsS02.1 Variation and genetic control of chromatin in humans, Bart Deplancke, Switzerland S02.2 Control of gene expression in disease, Michel Georges, Belgium S02.3 Computational challenges in single-cell transcriptomics, John Marioni, United Kingdom S03. Neuronal Migration disordersS03.1 Cerebellar hypoplasia, Kerstin Kutsche, Germany S03.2 The neurobiology of lissencephal, Anthony Wynshaw-Boris, United States S03.3 Neuronal migration defects associated with mutations in tubulins and MT-related proteins, Jamel Chelly, France S04. Computational Analysis of Gene NetworksS04.1 Disease, networks and epistasis, Caleb Webber, United Kingdom S04.2 Understanding molecular mechanisms of human disease mutations and coding variants through 3D protein networks, Haiyuan Yu, United States S04.3 From protein networks to disease mechanisms, Roded Sharan, Israel
S05. Early development and preimplantation geneticsS05.1 Dynamic blastomere behaviour, Reijo Pera, United States S05.2 Change to 24 chromosome copy number analysis for preimplantation genetic screening, Alan Handyside, United Kingdom S05.3 Preimplantation genetic diagnosis, Thierry Voet, Belgium | ||
08.30 - 10.00 | Educational Session 5 | |
ES5. Mosaicism in human diseaseES5.1 Genomic view on mosaicism and disease, Nancy Spinner, United States ES5.2 Revertant mosaicism in skin disease, M.F. Jonkmann, The Netherlands | ||
| 10.00 - 10.30 | Coffee Break, Free Poster Viewing, Exhibition | |
10.30 - 11.30 | Poster Viewing with Authors (Odd poster numbers) | |
11.30 - 13.30 | Free Poster Viewing, Exhibition, Lunch as of 12.15 hrs | |
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11.45 - 13.15 | Corporate Satellites | |
13.30 - 15.00 | Concurrent Sessions C07 - C12 | |
C07. Implementation of NGS in diagnostics | ||
| 15.00 - 15.30 | Vitamin Break, Free Poster Viewing, Exhibition | |
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15.30 - 17.00 | Workshops WS02 - WS07 | |
WS02. Dysmorphology 1* (Organisers: D. Donnai & J. Clayton-Smith) WS03. ENSEMBL* (Organisers: Emily Pritchard, Amonida Zadissa)WS04. Practical Bioinformatics: Whole exome sequence analysis (Organiser: N. Robinson) WS05. Quality assurance (Organiser: E. Dequeker) WS06. Community genetics - Clinical Genetic Services in 2025 (Organiser: M. Cornel & U. Kristoffersson) WS07. Preimplantation genetic diagnosis (Organisers: J. Vermeesch, E. Iwarsson) *Interactive workshops - your input is sollicited. See details for more information. | ||
15.30 - 17.00 | Corporate Satellites | |
| 17.00 - 17.30 | Coffee Break, Free Poster Viewing, Exhibition | |
17.30 - 19.00 | Concurrent Symposia S06 - S10 | |
S06. Risk perception and risk communication, joint with EMPAGS06.1 Risk is more than a number: About risks and probabilites and people's perception of genetic risks, Danielle Timmermans, Amsterdam, The Netherlands S06.2 Risk perception: what could be at stake in multiple genetic testing?, Claire Julian-Reynier, France S06.3 Risk communication methods for helping partients understand the risks and benefits of genetic testing, Angie Fagerlin, United States S07. Therapy for human genetic diseasesS07.2 Epithelial stem cell in cell and gene therapy, Michele de Luca, Italy S07.1 Gene therapy of human genetic diseases with AAV vectors, Alberto Auricchio, Italy S07.3 Therapeutic targeting of Phosphatidylinositol-3-kinase/AKT/mTOR signalling in segmental overgrowth disorders, Rob Semple, United Kingdom S08. Population genetics in a globalized worldS08.1 Demographic inference from identity by descent, Itsik Pe'er, United States S08.2 Insight into European genetic history at fine geographic scales using haplotype-based approaches, Simon Myers, United Kingdom S08.3 The role of population isolates in understanding genetic and complex diseases, Paolo Gasparini, Italy S09. Advances and new challenges in genetics of cardiovascular diseases - joint with the European Society of Cardiology (ESC)S09.1 Twenty-five years of research in sarcomeric cardiomyopathies and therapeutic perspectives, Hugh Watkins, United Kingdom S09.2 Mendelian randomization, Michael V Holmes, United Kingdom S09.3 Genetic testing in the clinical arena, current and future perspectives, Philippe Charron, France
S10. New Mutational MechanismsS10.1 Chromotrypsis, Edwin Cuppen, The Netherlands S10.2 Kataegis: a mutation signature identified through whole-genome sequencing of human cancers, Serena Nik-Zainal, United Kingdom S10.3 Medulloblastoma links chromothrypsis with TP53 mutations, Jan O. Korbel, Germany | ||
17.30 - 19.00 | Educational Session 6 | |
ES6. How to be successful in rare disease gene IdentificationES6.1 Strategies for rare disease gene discovery in the era of next-generation sequencing, Fowzan Alkuraya, Saudi Arabia & Kym Boycott, Canada | ||
19.00 - 20.30 | Corporate Satellites | |
19.00 - 20.00 | ESHG Membership Meeting | |
See detailed programme
See details