Programme

Please note that access to concurrent session details as well as to searchable abstracts is possible via our Programme Planner/Itinerary Builder.

Saturday, June 12, 2004

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14.00 Educational Sessions
  Course I: Referral diagnosis: The child with mental retardation Diagnostic strategies  - Room 05
G. Gillessen-Kaesbach
  Course II: Genome Databases: Comparison and User´s Guide - Room 013b
J. Kunz, S. Uebe
  Course III: Microarray analysis: A new tool of genetic diagnostics - Room 04
M. Bonin
15:45 Opening Ceremony - Room 01
Chair: V. van Heyningen and T. Meitinger
  Welcoming addresses by:
Thomas Meitinger
Local Host

Claus Bartram
President of the German Society of Human Genetics

Gerry Evers-Kiebooms
Co-Chair EMPAG

Veronica van Heyningen
President of the ESHG

Awarding of the Honorary Membership
of the German Society of Human Genetics to L. Zech and E.M. Mikkelsen
Laudation by C. Fonatsch

16.30 -
18.00
Opening Plenary Session P1 - Room 01
Chair: V. van Heyningen and T. Meitinger
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
17.00 L02. Biogenesis of mitochondria: Human diseases linked to protein transport, folding and degradation
W. Neupert
17.30 L03. New aspects of genetic mosaicism
R. Happle
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
18.30 L04. Regional differences in genetic testing and counselling in Europe - An overview
S. Aymé
18.50 L05. Hereditary Breast/Ovarian Cancer risk: international comparison of the acceptability of Preventive strategies
C. Julian-Reynier
19.10 L06. Variation in prenatal counselling in Europe: the example of Klinefelter
T. M. Marteau
19.30 L07. Fact and Fiction Across Frontiers. Perceptions and Attitudes of families across Europe towards genetic testing and counselling
L. Greene
20:00 Welcome Reception at the ICM
   
Sunday, June 13, 2004

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08.45 -
10.15
Plenary P3 Genomic Disorders - Room 01
Chair: Orsetta Zuffardi, Karl-Heinz Grzeschik
8.45 L08. Genome architecture, rearrangements, evolution and genomic disorders
J. R. Lupski
9.15 L09. Chromosome territory arrangements in the cell nucleus:probabilistic order and functional implications
T. Cremer
9.45 L10. Williams syndrome
L. Perez Jurado
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
   
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.

16.30 Coffee Break, Poster Viewing, Exhibition
   
17:00 -
18.30
Concurrent Symposia
  Symposium S1 Counselling and management for genetic risk of sudden cardiac death - Room 01
Chair: L. Kerzin-Storrar, K. Devriendt

Introduction
L. Kerzin-Storrar

17.00 S01. Long QT syndrome what it means to patients
S. Priori
17.30 S02. Genetic testing for Hypertrophic cardiomyopathy: how and what in clinical practice ?
P. Charron
   
18.00 S03. Living with Marfan Syndrome: Perceptions of Cardiovascular Risk and Events
B. B. Biesecker, F. Kong, R. Horne, K. Peters
  Symposium S2 Complex and common diseases - Room 05
Chair: F. Clerget-Darpoux, C. van Duijn
17.00 S04. Using linkage disequilibrium patterns to map human complex trait loci
L. Cardon
17.30 S05. Human genetics of susceptibility to infectious agents: the example of mycobacterial infections
L. Abel
18.00 S06. The genetics of asthma and atopic dermatitis
W. Cookson
   
  Symposium S3 Epigenetics - Room 13a
Chair: J.L. Mandel, B. Horsthemke
17.00 S07. microRNA and RNAi machineries in mammalian cells
W. Filipowicz, C. Artus, L. Jaskiewicz, F. Kolb, R. Pillai, H. Zhang
17.30 S08. The Human Epigenome Project
S. Beck, on behalf of the Human Epigenome Consortium
18.00 S09. Imprinted Genes and Transposons: Epigenomic Targets Linking Fetal Nutrition with Adult Disease Susceptibility
R. L. Jirtle
   
19:30 State Reception followed by an Evening in the World Famous 'Hofbräuhaus'
   
Monday, June 14, 2004

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8:45 Plenary P4 Therapy for genetic diseases - Room 01
Chair: G. Utermann, B. Gänsbacher
8.45 L11. AAV vectors for the treatment of retinal and metabolic disorders
A. Auricchio
9.15 L12. Enzyme replacement for Pompe disease
A. van der Ploeg
9.45 L13. Management of hereditary dyslipidemia; from pharmacogenomics to gene therapy
J. J. P. Kastelein
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
   
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.

16.30 Coffee Break, Poster Viewing, Exhibition
   
17:00 -
18.30
Concurrent Symposia
  Symposium S4 Cancer genetics - Room 01
Chair: A. Read, T. Frebourg
17.00 S12. Methylation in cancer
M. Esteller
17.30 S11. Dependence receptors: cell death inducers and conditional tumor suppressors
P. Mehlen
18.00 S10. Gene Expression networks in Breast Cancer
A. Børresen-Dale
   
  Symposium S5 Mechanisms of retinal degeneration - Room 05
Chair: B. Weber, A. Gal
17.00 S13. Photoreceptor biology in drosophila
C. Desplan
17.30 S14. The role of A2-E in Macular Degeneration
F. G. Holz
18.00 S15. From epithelial cell polarity to retinal degeneration: lessons from Drosophila
E. Knust
   
  Symposium S6 Model systems for genetics - Room 13a
Chair: A. Reis, V. van Heyningen
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
17.30 S17. Viral vectors as tool to create animal models of CNS disorders
N. Deglon
18.00 S18. Combining HT-RNAi and high-content assays in human cells and model organisms for target discovery and validation
B. Sönnichsen
   
  Symposium S7 Pharmacogenetics and preventive strategies  - Room 13b
Chair: A. Metspalu, T. Meitinger
17.00 S19. Pharmacogenetics
K. Lindpaintner
17.30 S20. Genetics of the antidepressant response
E. Binder, F. Holsboer
18.00 S21. The polypill
M. Law
   
18:30-
21:00
Free Poster Viewing with Wine and Cheese
19:00–
22:00
Business meetings
   
Tuesday, June 15, 2004

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8:45 -
10.15
Concurrent Symposia
  Symposium S8 Cytogenetics: Understanding translocations - Room 01
Chair: N. Tommerup, O. Zuffardi
8.45 S22. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
N. P. Carter
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
9.45  S24. Translocation breakpoints and disease genes
V. Kalscheuer
   
  Symposium S9 Functional Genomics - Room 05 
Chair: B. Wirth, W. Wurst
8.45 S25. Affinity Proteomics to Explore the Human Genome
M. Uhlen
9.15 S26. Function prediction and protein networks
P. Bork
9.45 S27. Genome-wide Cell based RNAi Screens in Drosophila
M. Boutros
   
  Symposium S10 Developmental Genetics - Room 13a
Chair: S. Lyonnet, G. Rappold
8.45 S28. Genetic architecture of Hsp90-buffered traits
S. Rutherford, K. F. Gorman, R. Howsmon, J. Biava, C. Carey, A. Aragaki, C. Kooperberg
9.15 S29. Pituitary development
S. Amselem
9.45 S30. Cholesterol Biosynthetic Disorders - What Can We Learn from Mouse Models?
G. E. Herman
   
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.

12:15 Lunch, Poster Removal, Exhibition
   
13.00 -
13.45
Plenary P5 Late Breaking Research
Chair: A. Read
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
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
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
   
13:45 ESHG Award Lecture by B. Horsthemke
14:45 ESHG Award
Isabelle Oberlé Award
L. Sandkuijl Prize
15:15 Closing Ceremony
Chair: L. Peltonen,  H. Brunner
15:30 End of Meeting
   

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