Preliminary Programme
as per April 13, 2006

Saturday, May 6, 2006

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10.00 Registration opens
 
12.30 -
15.30
Auditorium
Educational Session ES2. Statistical Genetic Analysis of Complex Phenotypes: Focus on Association Studies
Programme
14.00 Educational Sessions (continued)
Room L ES1. Genetic counselling (EMPAG)
Room N-N1-O-O1 ES3. Practical management in familial cancer
ES4. How to design a candidate gene study Cancelled!
16.00 -
16.30
Auditorium
Opening Ceremony
Welcoming Addresses by
Peter Heutink (Local host)
Andres Metspalu (President of the ESHG)
Gerry Evers-Kiebooms (Co-Chair EMPAG)
16.30 -
18.00
Auditorium
Plenary Session 1: Advances in genetics
Circadian biology, Joke Meijer (Leiden)
Impact of genetic testing on breast cancer care, new developments, Hanne Meijers-Heijboer (Rotterdam) 
Coeliac disease genetics, Ciska Wijmenga (Utrecht)
18.00 Coffee Break
18.30 -
19.45
Auditorium
Plenary Session 2: What's new?

Recent discoveries in the genetics of common diseases: selection and population history
Kari Stefansson (Reykjavik)

C01. Genomewide Quantitative Trait Association Study of Cardiac Repolarization (QT-interval) Identifies and fine maps a QTL to the CAPON/NOS1AP Gene
A. S. Pfeufer1, D. E. Arking2, W. Post2, W. H. L. Kao2, M. Ikeda2, K. West2, C. Kashuk2, M. Akyol3, S. Perz3, S. Jalilzadeh1, T. Illig3, C. Gieger3, H. E. Wichmann3, E. Marban2, P. M. Spooner2, S. Kaab4, A. Chakravarti2, T. Meitinger1;
1TU Munich, Munich, Germany, 2Johns Hopkins Medical Institutes, Baltimore, MD, United States, 3GSF National Research Center, Neuherberg, Germany, 4LMU Munich, Klinikum Grosshadern, Munich, Germany.

C02. Mutations in the facilitative glucose transporter GLUT10 alter arterial patterning and cause Arterial Tortuosity Syndrome
P. J. Coucke
1, A. Willaert1, M. W. Wessels2, B. Callewaert1, N. Zoppi3, J. De Backer1, J. E. Fox4, G. M. S. Mancini2, M. Kambouris5, R. Gardella3, F. Facchetti6, P. J. Willems7, R. Forsyth8, H. C. Dietz9, S. Barlati3, M. Colombi3, B. Loeys1, A. De Paepe1;
1Center for Medical Genetics, University Hospital Gent, Gent, Belgium, 2Department of clinical genetics, Rotterdam, The Netherlands, 3Division of Biology and Genetics,University of Brescia, Brescia, Italy, 4North Shore University Hospital, New York, NY, United States, 5Yale University, New Haven, CT, United States, 6Department of Pathology,University of Brescia, Brescia, Italy, 7Gendia, Antwerp, Belgium, 8Department of Pathology, Gent, Belgium, 9McKusick-Nathans Institute of Genetic Medicine, John Hopkins university, Baltimore, MD, United States.

C03. An extended consanguineous BBS family with two mutant genes, 3 mutations and no triallelism allows identification of a novel major BBS gene
H. J. Dollfus1, V. Laurier2, J. Muller3, C. Stoetzel1, N. Salem4, E. Chouery1, S. Corbani4, N. Jalk4, E. E. Davis5, S. Rix6, J. Badano5, C. Leitch7, C. Leitch7, A. Verloes8, P. Beales6, O. Poch3, D. Bonneau9, A. Mégarbané4, N. Katsanis5, J. Mandel3;
1Laboratoire de génétique médicale - Faculté de Médecine Université Louis Pasteur, Strasbourg, France, 2Laboratoire de génétique médicale - Hôpitaux Universitaires de Strasbourg., Strasbourg, France, 3Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France, 4Laboratoirede Génétique, Université Saint-Joseph, Beyrouth, Lebanon, 5McKusick-Nathans Institute of Genetic Medicine and Molecular Biology and Genetics, John Hopkins University, Baltimore, MD, United States, 6UCL Institute of Child Health, Molecular Medicine Unit, London, United Kingdom, 7McKusick-Nathans Institute of Genetic Medicine and Molecular Biology and Genetics, John Hopkins University, Baltimore, MD, United States, 8Service de génétique médicale -Hôptal Robert Debré, Paris, France, 9Service de génétique médicale - CHU Angers, Angers, France.

20.00 Welcome Reception at the RAI
 
 
Sunday, May 7, 2006

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08.45 -
10.15
Concurrent Symposia S01 - S03
Auditorium S01. Understanding complex diseases by endophenotypes
Analysis of quantitative trait loci, Harald Goring (San Antonio, TX)
Endophenotypes for cognitive traits, Eco de Geus (Amsterdam)
Gene Expression signatures identify clinically relevant subgroups of cancer- examples from colon and bladder, Torben Orntoft (Aarhus)
Forum S02. Genetics of genodermatoses
Ectodermal dysplasias, Marja Mikkola (Helsinki)
Ichthyosis, Peter Steylen (Maastricht)
Genetics of skin pigmentation and pigmentary diseases, Richard Spritz (Denver, CO)
Room N-N1-O-O1 S03. The new world of RNA
Mechanism and medical implications of RNA surveillance by Nonsense Mediated decay, Andreas Kulozik (Heidelberg)
RNA splicing in cancer, Julian P. Venables (Newcastle)
Genetics of variation in human gene expression, Vivian Cheung (Philadelphia, PA)
10.15 -
10.45
Coffee Break, Poster viewing, Exhibition
10.45 Free Poster viewing, Exhibition
11.15 Poster discussion with presenters (odd poster numbers)
12.15 Lunch, Poster Viewing, Exhibition
13.15 -
14.45
Workshops W1 - W6
W1. Syndrome Identification I (Auditorium), Dian Donnai, Jill Clayton Smith - Submit an abstract
W2. Community Genetics (Room L), Martina Cornel, U. Kristoffersson - Programme
W3. Human Genome variability (Room N-N1-O-O1), Andres Metspalu - Programme
W4. Twin research (Room B), Dorret Boomsma - Programme
W5. Quality control (Room A), Els Dequeker, Michael Morris - Programme
W6. Cytogenetics (Forum), Mariano Rocchi - Programme
15.00 -
16.30
Concurrent Sessions C1 - C4 (click on the session name for details)
Auditorium C01 Genetic analysis of complex disease I
Forum C02 Clinical genetics I
Room N-N1-O-O1 C03 Neurogenetics
Room A C04 Cancer genetics
16.30 Coffee Break, Poster viewing, Exhibition
17.00 -
18.30
Concurrent Symposia S04-S07
Auditorium S04. Genetics of sense organs
Taste genetics, Beverley Tepper (New Brunswick, NJ)
Genetics of smell, Doron Lancet (Rehovot)
Genetics of pain perception, A. Dahan (Leiden)
Forum S05. Infectious diseases: Genetics matters!
Genetic control of infectious disease in humans, Adrian Hill (Oxford)
Mice, microbes and models of infection, Rudi Balling (Braunschweig)
Mendelian predispositions to infectious diseases, Jean Laurent Casanova (Paris)
Room N-N1-O-O1 S06. Chromosomal segregation
Constitutional aneuploidy and cancer predisposition, Nazneen Rahman (Sutton)
Spindle checkpoint proteins and their multiple roles in regulating chromosome segregation, Claudio E. Sunkel (Porto)
Regulating mitosis by proteolysis, John Pines, (Cambridge)
Room A S07. Autonomy in decision making (with EMPAG)
Cascade screening: whose information is it anyway?, Guido de Wert (Maastricht)
Autonomy and prenatal testing decisions, Elizabeth Dormandy (London)
Shared decision-making in clinical genetics,
Anneke Lucassen (Southampton)

 
Monday, May 8, 2006

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8.45 -
10.15
Auditorium
Plenary Session 3: Pathogenesis of human genetic disease
Genetic causes of vascular malformations, Miikka Vikkula (Brussels)
Huntington disease, Gill Bates (London)
Systems biology approaches for the study of aging and age-related diseases, Ralf Baumeister (Freiburg)
10.15 -
10.45
Coffee Break, Poster viewing, Exhibition
10.45 Free Poster viewing, Exhibition
11.15 Poster Discussion with presenters (even poster numbers)
12.15 Lunch, Poster viewing, Exhibition
13.15 -
14.45
Workshops W07 - W12
W07. Syndrome Identification II (Auditorium), Dian Donnai, Jill Clayton-Smith - Submit an abstract
W08. Genetic education (Room N-N1-O-O1), Domenico Coviello, Leo ten Kate - Programme
W09. Noninvasive prenatal diagnosis (Forum), Maj Hulten, Dennis Lo - Programme
W10. History of Genetics (Room A), Toine Pieters - Programme
W11. EU projects workshop (Room B), Jean-Jacques Cassiman - Programme
W12. EMPAG joint workshop: Challenging genetic counselling case discussion (Room L), Lauren Kerzin-Storrar, Tara Clancy. Anyone interested in attending the workshop W12 is encouraged to bring a summary of a counselling case on ONE OHP and if possible submit to the registration desk by 12 noon on May 8.
15.00 - 16.30 Concurrent Sessions C5 - C9  (click on the session name for details)
Auditorium C05 Genetic analysis of complex disease II
Forum C06 Clinical genetics II
Room N-N1-O-O1 C07 Molecular mechanisms of disease
Room A C08 Prenatal and preimplantation diagnosis
Room B C09 Therapy for genetic disease
16.30 Coffee Break, Poster viewing, Exhibition
17.00 -
18.30
Concurrent Symposia S08 - S11
Auditorium S08. Recent advances in neurogenetics
Age-related Macula degeneration, Caroline Klaver (Rotterdam)
Parkinson disease and LRRK2, Thomas Gasser (Tübingen)
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
, Thierry Frébourg (Rouen)
Forum S09. Aneuploidy
Segmental Duplication and Human Genome Variation, Evan Eichler (Seattle, WA)
Deconstructing deletion syndromes: new techniques and old karyotypes, Cornelia M.A. Van Ravenswaay (Nijmegen)
Segmental Duplications in 22q11 Mediate Deletions, Translocations and Genomic Instability, Beverly Emanuel (Philadelphia, PA)
Room N-N1-O-O1 S10. Comparative genomics
Vertebrate chromosome evolution since our last common ancestor, Hugues Roest-Crollius (Paris)
Evolution of primary microcephaly genes and the enlargement of primate brains, Andrew Jackson (Edinburgh) (please note the update)
The complexity of human genes, Roderic Guigo (Barcelona)
Room A S11. Towards measuring quality of genetic counselling (with EMPAG)
Separating means from ends: turning back to the goals of genetic counseling, Shoshana Shiloh (Tel-Aviv)
What works, and why, in Genetic Counselling? The need for theory, Susan Michie (London)
Listening to consumers in genetic healthcare – an audit tool to support measurement of outcomes,
Heather Skirton (Somerset)
20.00 Congress Party at NEMO Science Center


 

Tuesday, May 9, 2006

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8.45 -
10.15
Concurrent Symposia S12-S14
Auditorium S12. Genetics based cancer treatment
Targeting the DNA repair defects in tumours, Alan Ashworth (London)
Exploring the role Wnt/ß-catenin signaling in intestinal and mammary cancer stemness, Riccardo Fodde (Rotterdam)
Kinases in cancer treatment, Bernd Groner (Frankfurt)
Forum S13. Genetics of speech, reading, writing
On genes speech and language, Simon Fisher (Oxford)
Learning and the cerebellum, Ben Oostra (Rotterdam)
Dyslexia, Gerd Schulte-Körne (Marburg)
Room N-N1-O-O1 S14. Heart disease – congenital and developmental
New insights into molecular genetics of ARVC, Brenda Gerull (Berlin)
The role of Tbx1 in DiGeorge syndrome, Antonio Baldini (Houston, TX)
Concepts of cardiac development, Anton Moorman (Amsterdam)
10.15 Coffee Break, Poster viewing, Exhibition
10.45 -
12.15
Concurrent Sessions C10 - C13  (click on the session name for details)
Auditorium C10 Genetic analysis of complex disease III
Forum C11 Clinical and molecular cytogenetics
Room N-N1-O-O1 C12 Molecular dysmorphology
Room B C13 Genomics, Technology
12.15 Lunch, Poster removal, Exhibition
13.15 -
14.00
Auditorium
Plenary Session 4: Nobel Laureate Lecture

Humanity's Genes
Special lecture by Prof. Sydney Brenner, Nobel laureate (La Jolla, CA)

14.00 -
15.30
Auditorium
Plenary Session 5:
Journal Awards
Young Investigator Awards

ESHG Award Lecture: Making eyes: Lessons from ocular malformations
Veronica van Heyningen (Edinburgh)

Closing

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