Programme
Please note that access to concurrent session details as well as to searchable abstracts is possible via our Programme Planner/Itinerary Builder.
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| 14.00 | Educational Sessions | ||
| Course I: Referral diagnosis: The child with mental retardation
Diagnostic strategies - Room 05 G. Gillessen-Kaesbach |
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| Course II: Genome Databases: Comparison and User´s Guide
- Room 013b J. Kunz, S. Uebe |
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| Course III: Microarray analysis: A new tool of genetic diagnostics
- Room 04 M. Bonin |
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| 15:45 | Opening
Ceremony - Room 01 Chair: V. van Heyningen and T. Meitinger |
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| Welcoming
addresses by: Thomas Meitinger Local Host Claus Bartram Gerry Evers-Kiebooms Veronica van Heyningen Awarding of the Honorary Membership |
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| 16.30 -
18.00 |
Opening Plenary
Session P1 - Room 01 Chair: V. van Heyningen and T. Meitinger |
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| 16.30 | L01.
Multiple Sulfatase Defi ciency: Molecular defect and properties of the
missing enzyme. K. von Figura, M. Mariappan, J. Peng, A. Preußer, B. Schmidt |
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| 17.00 | L02.
Biogenesis of mitochondria: Human diseases linked to protein transport,
folding and degradation W. Neupert |
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| 17.30 | L03. New
aspects of genetic mosaicism R. Happle |
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| 18.00 | Coffee Break | ||
| 18:30 - 20.00 |
Plenary
P2: Regional Differences in genetic testing and counselling in Europe (joint
with EMPAG) - Room 01 Chair: L. Kerzin-Storrar and C. Bartram |
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| 18.30 | L04.
Regional differences in genetic testing and counselling in Europe - An
overview S. Aymé |
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| 18.50 | L05.
Hereditary Breast/Ovarian Cancer risk: international comparison of the
acceptability of Preventive strategies C. Julian-Reynier |
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| 19.10 | L06.
Variation in prenatal counselling in Europe: the example of Klinefelter T. M. Marteau |
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| 19.30 | L07. Fact
and Fiction Across Frontiers. Perceptions and Attitudes of families across
Europe towards genetic testing and counselling L. Greene |
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| 20:00 | Welcome Reception at the ICM | ||
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| 08.45 - 10.15 |
Plenary
P3 Genomic Disorders - Room 01 Chair: Orsetta Zuffardi, Karl-Heinz Grzeschik |
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| 8.45 | L08.
Genome architecture, rearrangements, evolution and genomic disorders J. R. Lupski |
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| 9.15 | L09.
Chromosome territory arrangements in the cell nucleus:probabilistic order
and functional implications T. Cremer |
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| 9.45 | L10.
Williams syndrome L. Perez Jurado |
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| 10:45 | Coffee Break, Poster Viewing, Exhibition | ||
| 11:15 | Poster Discussion with Presenters (odd Poster Numbers) | ||
| 12:45 | Lunch, Poster Viewing, Exhibition | ||
| 13:15 |
Workshops W1 Cytogenetics: O. Zuffardi, N. Tommerup - Room 01 W2 Syndrome identification I: D. Donnai, Jill Clayton-Smith - Room 05 W3 Common Diseases: M. Krawczak, C. van Duijn - Room 13a W4 Models of service delivery: multidisciplinary clinics/approach, with EMPAG - Room 13b W5 Quality Control: E. Dequeker, M. Morris - Room 04 |
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| 15:00 - 16.30 |
Concurrent Sessions C01 Clinical Genetics I - Room 01 C02 Molecular Genetics I - Room 05 C03 Genomics - Room 13a C04 Population Genetics - Room 13b Details on Concurrent Sessions can be found either in the Programme Planner/Itinerary Builder or in the pdf version of the programme. |
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| 16.30 | Coffee Break, Poster Viewing, Exhibition | ||
| 17:00 -
18.30 |
Concurrent Symposia | ||
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Symposium S1 Counselling and management for genetic
risk of sudden cardiac death - Room 01 Chair: L. Kerzin-Storrar, K. Devriendt Introduction |
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| 17.00 | S01. Long
QT syndrome what it means to patients S. Priori |
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| 17.30 | S02.
Genetic testing for Hypertrophic cardiomyopathy: how and what in clinical
practice ? P. Charron |
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| 18.00 | S03.
Living with Marfan Syndrome: Perceptions of Cardiovascular Risk and Events B. B. Biesecker, F. Kong, R. Horne, K. Peters |
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Symposium S2 Complex and common diseases - Room 05 Chair: F. Clerget-Darpoux, C. van Duijn |
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| 17.00 | S04. Using
linkage disequilibrium patterns to map human complex trait loci L. Cardon |
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| 17.30 | S05. Human
genetics of susceptibility to infectious agents: the example of
mycobacterial infections L. Abel |
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| 18.00 | S06. The
genetics of asthma and atopic dermatitis W. Cookson |
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Symposium S3 Epigenetics - Room 13a Chair: J.L. Mandel, B. Horsthemke |
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| 17.00 | S07.
microRNA and RNAi machineries in mammalian cells W. Filipowicz, C. Artus, L. Jaskiewicz, F. Kolb, R. Pillai, H. Zhang |
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| 17.30 | S08. The
Human Epigenome Project S. Beck, on behalf of the Human Epigenome Consortium |
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| 18.00 | S09.
Imprinted Genes and Transposons: Epigenomic Targets Linking Fetal Nutrition
with Adult Disease Susceptibility R. L. Jirtle |
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| 19:30 | State Reception followed by an Evening in the World Famous 'Hofbräuhaus' | ||
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| 8:45 | Plenary
P4 Therapy for genetic diseases - Room 01 Chair: G. Utermann, B. Gänsbacher |
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| 8.45 | L11. AAV
vectors for the treatment of retinal and metabolic disorders A. Auricchio |
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| 9.15 | L12.
Enzyme replacement for Pompe disease A. van der Ploeg |
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| 9.45 | L13.
Management of hereditary dyslipidemia; from pharmacogenomics to gene therapy J. J. P. Kastelein |
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| 10:45 | Coffee Break, Poster Viewing, Exhibition | ||
| 11:15 | Poster Discussion with Authors (Even Poster Numbers) | ||
| 12:45 | Lunch, Poster Viewing, Exhibition | ||
| 13:15 |
Workshops W6 Prenatal, Preimplantation: C. Delozier, R.D. Wegner - Room 01 W7 Syndrome identification II: D. Donnai, Jill Clayton-Smith - Room 05 W8 Gene patenting in Europe, G. Matthijs, with TT-NGFN - Room 13a W9 Difficult Counselling Cases (joint with EMPAG) - Room 13b W10 Community Genetics - Genetic Education: D. Coviello, M. Cornel, L. Ten Kate - Room 04 W11 Biobanking: H.E. Wichman - Room 11 |
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| 15:00 |
Concurrent Sessions C05 Clinical Genetics II - Dysmorphology - Room 01 C06 Mental Retardation - Room 05 C07 Technology - Room 13a C08 Cancer Genetics - Room 13b Details on Concurrent Sessions can be found either in the Programme Planner/Itinerary Builder or in the pdf version of the programme. |
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| 16.30 | Coffee Break, Poster Viewing, Exhibition | ||
| 17:00 -
18.30 |
Concurrent Symposia | ||
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Symposium S4 Cancer genetics - Room 01 Chair: A. Read, T. Frebourg |
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| 17.00 | S12.
Methylation in cancer M. Esteller |
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| 17.30 | S11.
Dependence receptors: cell death inducers and conditional tumor suppressors P. Mehlen |
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| 18.00 | S10. Gene
Expression networks in Breast Cancer A. Børresen-Dale |
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Symposium S5 Mechanisms of retinal degeneration - Room 05 Chair: B. Weber, A. Gal |
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| 17.00 | S13.
Photoreceptor biology in drosophila C. Desplan |
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| 17.30 | S14. The
role of A2-E in Macular Degeneration F. G. Holz |
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| 18.00 | S15. From
epithelial cell polarity to retinal degeneration: lessons from Drosophila E. Knust |
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Symposium S6 Model systems for genetics - Room 13a Chair: A. Reis, V. van Heyningen |
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| 17.00 | S16.
Kremens are novel Dickkopf receptors that regulate Wnt/β-catenin signalling C. Niehrs, B. Mao, W. Wu, G. Davidson, J. Marhold, M. Li, M. Mechler, H. Delius, A. Glinka |
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| 17.30 | S17. Viral
vectors as tool to create animal models of CNS disorders N. Deglon |
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| 18.00 | S18.
Combining HT-RNAi and high-content assays in human cells and model organisms
for target discovery and validation B. Sönnichsen |
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Symposium S7 Pharmacogenetics and preventive strategies - Room 13b Chair: A. Metspalu, T. Meitinger |
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| 17.00 | S19.
Pharmacogenetics K. Lindpaintner |
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| 17.30 | S20.
Genetics of the antidepressant response E. Binder, F. Holsboer |
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| 18.00 | S21. The
polypill M. Law |
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| 18:30- 21:00 |
Free Poster Viewing with Wine and Cheese | ||
| 19:00– 22:00 |
Business meetings | ||
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| 8:45 - 10.15 |
Concurrent Symposia | ||
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Symposium S8 Cytogenetics: Understanding translocations - Room 01 Chair: N. Tommerup, O. Zuffardi |
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| 8.45 | S22. The
complex nature of constitutional de novo apparently balanced translocations
in patients presenting with abnormal phenotypes N. P. Carter |
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| 9.15 | S23.
Molecular analysis of breakpoint sequences in non-recurring balanced
translocations R. Giorda, U. Pozzoli, M. Bonaglia, S. Giglio, G. Gimelli, G. Gregato, T. Pramparo, M. Sironi, C. Baschirotto, O. Zuffardi |
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| 9.45 | S24.
Translocation breakpoints and disease genes V. Kalscheuer |
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Symposium S9 Functional Genomics - Room 05 Chair: B. Wirth, W. Wurst |
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| 8.45 | S25.
Affinity Proteomics to Explore the Human Genome M. Uhlen |
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| 9.15 | S26.
Function prediction and protein networks P. Bork |
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| 9.45 | S27.
Genome-wide Cell based RNAi Screens in Drosophila M. Boutros |
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Symposium S10 Developmental Genetics - Room 13a Chair: S. Lyonnet, G. Rappold |
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| 8.45 | S28.
Genetic architecture of Hsp90-buffered traits S. Rutherford, K. F. Gorman, R. Howsmon, J. Biava, C. Carey, A. Aragaki, C. Kooperberg |
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| 9.15 | S29.
Pituitary development S. Amselem |
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| 9.45 | S30.
Cholesterol Biosynthetic Disorders - What Can We Learn from Mouse Models? G. E. Herman |
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| 10:15 | Coffee Break, Poster Viewing, Exhibition | ||
| 10.45 - 12.15 |
Concurrent Sessions C09 Molecular Genetics II - Room 01 C10 Cytogenetics - Room 05 C11 Clinical Genetics III - Skeletal Dysplasia - Room 13a C12 Statistical Genetics and Genetic Epidemiology - Room 13b Details on Concurrent Sessions can be found either in the Programme Planner/Itinerary Builder or in the pdf version of the programme. |
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| 12:15 | Lunch, Poster Removal, Exhibition | ||
| 13.00 - 13.45 |
Plenary
P5 Late Breaking Research Chair: A. Read |
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| 13.00 | LB3.
Germline mutations of the Ephrin-B1 gene cause Craniofrontonasal Syndrome
I. Wieland, S. Jakubiczka, P. Muschke, M. Cohen, H. Thiele, K. L. Gerlach, R. Adams, P. Wieacker |
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| 13.15 | LB2. A
Molecular Pathogenesis for Transcription Factor Associated Poly-Alanine
Tract Expansions A. N. Albrecht, U. Kornak, A. Böddrich, K. Süring, R. Lurz, S. Stricker, E. Wanker, S. Mundlos |
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| 13.30 | LB1. NIPBL,
encoding a homologue of fungal Scc2-type sister chromatid cohesion proteins
and Drosophila Nipped-B, is mutated in Cornelia de Lange syndrome. E. T. Tonkin, T. J. Wang, S. Lisgo, M. J. Bamshad, T. Strachan |
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| 13:45 | ESHG Award Lecture by B. Horsthemke | ||
| 14:45 | ESHG
Award Isabelle Oberlé Award L. Sandkuijl Prize |
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| 15:15 | Closing
Ceremony Chair: L. Peltonen, H. Brunner |
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| 15:30 | End of Meeting | ||
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