ESHG 2007 - Preliminary Programme
Last update: June 5, 2007
Please note that the programme and speakers are subject to alteration.

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Plenary Lectures Concurrent Symposia Concurrent Sessions Poster Discussions Workshops  Educational Sessions

Saturday, June 16, 2007


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10.00 Registration opens
 
14.00 - 15.30 Educational Sessions (to be confirmed)

CANCELLED ES1. Clinical genetics, skeletal dysplasia (Geert Mortier)
ES2. Movement disorders, Clinical and molecular diagnosis (Olaf Rieß)
ES3. Complex genetics: Asthma as an example (Juha Kere)
ES4. Molecular cytogenetics in practice (Nigel Carter)

16.00 - 16.30 Opening Ceremony
Chair: V. Paquis-Flucklinger, J. Burn

Welcoming Addresses
ESHG Education Awards
The Education Award 2007 of the European Society of Human Genetics will be presented to Professors Tom Strachan and Andrew Read for their outstanding contribution to the dispersal of knowledge of modern human molecular genetics among students and professionals.

16.30 - 18.00
Room Apollon
Plenary Session 1
Chair: V. Paquis-Flucklinger, J. Burn
  • Establishment and hereditary transmission of epigenetic modifications and pathological developments: the mouse model
    François Cuzin, Nice, France
     
  • DNA Repair, genome maintenance and human disease
    Miroslav Radman, Paris, France
     
  • Human neuroimaging - contributions to neurogenetics
    Richard Frackowiak, London, United Kingdom
18.00 Coffee Break
18.30 - 19.45 Plenary Session 2: What's new? (from submitted abstracts)
Chair: A. Munnich, H. Brunner

PL04
Neurodegeneration in lysosomal storage diseases is associated with impairment of autophagy
A. Fraldi
1, C. Settembre1, C. Spampanato1, R. de Pablo1, D. L. Medina1, L. Jahreiss2, A. Lombardi1, C. Venturi3, C. Tacchetti3, D. C. Rubinsztein2, A. Ballabio1,4;
1Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy, 2Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom, 3Department of Experimental Medicine and §MicroSCoBiO Research Center and IFOM Center of Cell Oncology and Ultrastructure, University of Genoa, Genoa, Italy, 4Medical Genetics, Department of Pediatrics, Federico II University, Naples, Italy.

PL05
Identification of 3 novel genes that cause X-linked mental retardation; AP1S2, CUL4B and ZDHHC9.
F. Raymond
1, P. Tarpey2, G. Turner3, R. Stevenson4, C. Schwartz4, J. Gecz5, P. Futreal2, M. Stratton2, on behalf of the GOLD (Genetics of Learning Disability) study;
1Cambridge Institute for Medical Research, Cambridge, United Kingdom, 2Sanger Institute, Cambridge, United Kingdom, 3University of Newcastle, Newcastle, Australia, 4JC Self Research Institute of Human Genetics, Greenwood, SC, United States, 5University of Adelaide, Adelaide, Australia.

PL06
Mutations in LRP2, coding for the multi-ligand receptor megalin, cause Donnai-Barrow and Faciooculoacousticorenal (FOAR) syndromes
S. Kantarci1, L. Al-Gazali2, R. Hill3, D. Donnai4, G. C. M. Black4, E. Bieth5, N. Chassaing5,6, D. Lacombe6, K. Devriendt7, A. Teebi8, M. Loscertales1, C. Robson9, T. Liu10, D. T. MacLaughlin1, K. M. Noonan1, M. K. Russell1, C. A. Walsh3,9, P. K. Donahoe1, B. R. Pober1,9;
1Massachusetts General Hospital, Boston, MA, United States, 2UAE University, Al Ain, United Arab Emirates, 3Beth Israel Deaconess Medical Center, Boston, MA, United States, 4University of Manchester and St Mary’s Hospital, Manchester, United Kingdom, 5Hopital Purpan, Toulouse, France, 6Hôpital Pelligrin, Bordeaux, France, 7University of Leuven, Leuven, Belgium, 8Weill Cornell Medical College in Qatar and Hamad Medical City, Doha, Qatar, 9Children's Hospital, Boston, MA, United States, 10Brigham and Women's Hospital, Boston, MA, United States.

PL07
RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial suture development and obesity
D. Jenkins
1, D. Seelow2, F. S. Jeehee3, C. A. Perlyn4, L. G. Alonso5, D. F. Bueno6, D. Donnai7, D. Josifiova8, I. M. J. Mathijssen9, J. E. V. Morton10, K. Orstavik11, E. Sweeney12, S. A. Wall13, J. L. Marsh14, P. Nurnberg2, M. Passos-Bueno15, A. O. M. Wilkie1;
1Weatherall Institute of Molecular Medicine, Oxford, United Kingdom, 2Cologne Center for Genomics and Institute for Genetics, Cologne, Germany, 3Centro de Estudos de Genomca Humano, Sao Paulo, Brazil, 4Washington University School of Medicine, St Louis, MO, United States, 5Universidade Federal de Sao Paulo, Sao Paulo, Brazil, 6Universidade de Campinas, Sao Paulo, Brazil, 7University of Manchester, Manchester, United Kingdom, 8Guy's Hospital, London, United Kingdom, 9Erasmus Medical Center, Rotterdam, The Netherlands, 10Birmingham Women's Hospital, Birmingham, United Kingdom, 11Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway, 12Liverpool Women's Hospital, Liverpool, United Kingdom, 13John Radcliffe Hospital, Oxford, United Kingdom, 14St John's Mercy Medical Center, St Louis, MO, United States, 15Universidade de Sao Paulo, Sao Paulo, Brazil.

PL08
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerization using free fetal DNA isolated from maternal plasma.
H. B. Schlecht
1, E. M. J. Boon2, P. Martin3, G. Daniels3, R. H. A. M. Vossen4, J. T. den Dunnen4, B. Bakker2, R. Elles1;
1National Genetics Reference Laboratory, Manchester, United Kingdom, 2Leiden University Medical Centre, Leiden, The Netherlands, 3International Blood Group Reference Centre, Bristol, United Kingdom, 4Leiden Genome Technology Centre, Leiden, The Netherlands.

 

20.00 Welcome Reception at Nice Acropolis
 
 
Sunday, June 17, 2007

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08.45 - 10.15 Concurrent Symposia S01 - S04
Room Apollon S01. The future of Genetic Counselling and of the genetic services
Chair: H. Kääriäinen, J.J. Cassiman
  • The increasing impact of internet on genetic services.
    Segolene Aymé, Paris, France
     
  • Is there a role for the Human Geneticist in the genomic revolution
    Charles Epstein, San Francisco, CA
     
  • What do we do with 1000 € genome?
    Marcus Pembrey, Bristol, United Kingdom
08.45 - 10.15
Room Athéna

S02. miRNAs and the RNA world
Chair: A. Read, T. Frébourg

  • What miRNAs do
    Scott Hammond, Chapell Hill, United States
     
  • Small RNAs in gametogenesis
    Angélique Girard, Cold Spring Harbor, United States
     
  • Vertebrate miRNA diversity
    Edwin Cuppen, Utrecht, NL
08.45 - 10.15
Room Thalie+Erato
S03. Genetics of inflammatory diseases
Chair: F. Clerget-Darpoux, J. Kere
  • SLE susceptibility genes
    Tim J. Vyse, London, United Kingdom
     
  • New pathways in pathogenesis of allergic asthma: ADAM33 and end organ susceptibility genes
    John Holloway, Southampton, United Kingdom
     
  • Genetic and environmental factors in celiac disease
    Ludvig Sollid, Oslo, Norway
08.45 - 10.15
Room Hermès
S04. Genetics of skin pigmentation
Chair: A. Wilkie, T. Magnaldo
  • The genetic architecture of Skin pigmentation
    Mark Shriver, University Park, PA, United States
     
  • Novel Insights into melanoma genetics
    Boris C. Bastian, San Francisco, CA, United States
     
  • Coat colour mutants and melanocyte signalling pathways
    Bill Pavan, Bethesda, MD, United States
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 - W5 - Programmes as submitted by the organisers

W1. Syndrome identification I, D. Donnai, J. Clayton-Smith
W2. Community genetics
, M. Cornel, U. Kristoffersson, L. ten Kate
W3. Quality control
, E. Dequeker, M. Morris
W4. Cytogenetics
, M. Vekemans, J.C.K. Barber
W5. Preimplantation genetic diagnosis
, M. Macek Jr., A. Corveleyn
W6. 22q11 disorders (Molecular genetics and clinical aspects)
, B. Emmanuel, B. Morrow

15.00 - 16.30 Concurrent Sessions C1 - C5
16.30 Coffee Break, Poster viewing, Exhibition
17.15 - 18.45 Concurrent Symposia S05-S08
17.15 - 18.45
Room Apollon
S05. Cilia and disease
Chair: J.L. Mandel, D. Bonneau
  • Laterality and laterality disorders
    Judith Goodship, Newcastle upon Tyne, United Kingdom
     
  • Molecular basis of primary ciliary dyskinesia
    Serge Amselem, Créteil, France
     
  • Bardet Biedl disease
    Philip Beales, London, United Kingdom
17.15 - 18.45
Room Athéna
S06. Developing differences: Gene expression mapping in mouse and human brain
Chair: A. Ballabio, M. Vekemans
  • Towards a gene expression map of human brain development
    Susan Lindsay, Newcastle upon Tyne, United Kingdom
     
  • Genetic and genomic studies of patterning in the human cerebral cortex
    Christopher A. Walsh, Boston, MA, United States
     
  • Signalling Pathways deduced from the analysis of spatial gene expression patterns
    G. Eichele, Göttingen, Germany
17.15 - 18.45
Room Thalie+Erato
S07. New and non-traditional mechanisms of inheritance
Chair: N. Lévy, S. Lyonnet
  • Thalassemia and SNPs
    Douglas R. Higgs, Oxford, United Kingdom
     
  • Chromosome dynamics in gene regulation
    Charalambos G. Spilianakis, New Haven, CT, United States
     
  • Molecular mechanisms of congenital hyperinsulinism
    Pascale de Lonlay, Paris, France
17.15 - 18.45
Room Hermès

S08. Cancer stem cells and cell lineage commitment
Chair: D. Aberdam, P. Lichter

  • Bone marrow derived stem cells and cancer: from the perspective of gastric cancer
    Jean-Marie Houghton, Worcester, MA, United States
     
  • Stem cell renewal and the Nanog gene
    Austin Smith, Cambridge, United Kingdom
     
  • The role of Pax5 in B-cell commitment and lymphomagenesis
    Meinard Busslinger, Vienna, Austria
19.00 - 20.00
Room Hermès
 
General Assembly and Membership Meeting of the ESHG
Monday, June 18, 2007

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8.45 - 10.15
Room Apollon
Plenary Session 3: Neurogenetics
Chair: A. Durr, P. Heutink
  • Neurodegenerative dementias
    Christine Van Broeckhoven, Antwerp, Belgium
     
  • Daring clinical trials in Friedreich ataxia? Iron and irony of fate
    Arnold Munnich, Paris, France
     
  • Huntington pathogenesis
    Frédéric Saudou, Paris, France
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 W7 - W11 - Programmes as submitted by the organisers

W7. Syndrome identification II, D. Donnai, J. Clayton-Smith
W8. Genetics education
, D. Coviello, L. ten Kate
W9. Non invasive prenatal diagnosis
, M. Hulten, L. Chitty
W10. History of (cyto)genetics
, C. Yapiyakis
W11. Users discussion on array platforms
, P. Lichter, N. Carter
W12. Mutation nomenclature and disease-gene mutation databases
, J. den Dunnen

15.00 - 16.30 Concurrent Sessions C6 - C10
16.30 Coffee Break, Poster viewing, Exhibition
17.15 - 18.45 Concurrent Symposia S09 - S12
Room Apollon S09. From aneuploidies to phenotypes
Chair: C. Delozier, P. Jonveaux
  • NFAT pathway
    Isabella Graef, Stanford, CA, United States
     
  • The Tc1 mouse, an aneuploid mouse with a human chromosome that models aspects of Down syndrome
    Elizabeth Fisher, London, United Kingdom
     
  • Copy number variation in the human genome
    Stephen W. Scherer, Toronto, Canada
17.15 - 18.45
Room Athéna
S10. Epigenetics
Chair: E. Gilson, E. Tizzano
  • Polymorphic miRNA-mediated gene regulation: contribution to phenotypic variation and disease
    Michel Georges, Liege, Belgium
     
  • Epigenetics and X-inactivation
    Claire Rougeulle, Paris, France
     
  • Methylation and colorectal cancer
    Miguel A. Peinado, Barcelona, Spain
17.15 - 18.45
Room Thalie+Erato
S11. Genetic epidemiology and large population studies
Chair: F. Clerget -Darpoux, P. Gasparini
  • Testing and estimation of genotype and haplotype effects in case/control and family-based association studies
    Heather Cordell, Newcastle upon Tyne, United Kingdom
     
  • Genotyping on large-scale platforms
    Markus Nöthen, Bonn, Germany
     
  • Large population studies
    Bill Ollier, Manchester, United Kingdom
17.15 - 18.45
Room Hermès
S12. Animal models
Chair: J.L. Mandel, O. Riess
  • Cell division and modelling cancer in Drosophila
    Cayetano Gonzalez, Barcelona, Spain
     
  • How is time controlled during embryonic development? Lessons from the chick embryo
    Fernanda Bajanca, Braga, Portugal
     
  • Conditional gene targeting to model human diseases in mice
    Klaus Rajewsky, Boston, MA, United States
20.00 Congress Party - Beach party at the Hotel "Le Meridien" Nice.


 

Tuesday, June 19, 2007

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8.45 - 10.15 Concurrent Symposia S13-S15
8.45 - 10.15
Room Apollon
S13. Modifier genes
Chair: C. Ferec, B. Kerem
  • What is a modifier gene?
    Aravinda Chakravarti, Baltimore, MD, United States
     
  • Is the candidate gene approach a good way to find CF modifiers?
    Mitchell L. Drumm, Cleveland, OH, United States
     
  • Genes that modify iron loading in mice
    Nancy Andrews, Boston, MA, United States 
     
  • Genetic Modulation of Sickle Cell Anemia
    Martin H. Steinberg, Boston, MA, United States
8.45 - 10.15
Room Athéna
S14. New metabolic diseases
Chair: B. Wirth
  • Biochemistry and genetics of mitochondrial fatty-acid oxidation disorders
    Ronald J.A. Wanders, Amsterdam, The Netherlands
     
  • Glycosylation defects
    Gert Matthijs, Leuven, Belgium
     
  • Pyridoxine metabolism
    Peter Clayton, London, United Kingdom
8.45 - 10.15
Room Thalie+Erato
S15. From development to oncogenesis
Chair: J. Amiel, R. Seruca
  • APC Genes
    Inke Näthke, Dundee, United Kingdom
     
  • Wt1 acts at multiple stages during kidney development
    Andreas Schedl, Nice, France
     
  • Making eyes: lessons from ocular malformations
    Veronica van Heyningen, Edinburgh
10.15 Coffee Break, Poster viewing, Exhibition
10.45 - 12.15 Concurrent Sessions C11 - C14

 

12.15 Lunch, Poster removal, Exhibition
13.15 - 14.00
Room Apollon
Plenary Session 4: Distinguished Speaker Lecture
Chair: P.F. Pignatti, H.Brunner

Intracellular Protein Degradation: From a Vague Idea thru the Lysosome and the Ubiquitin-Proteasome System and onto Human Diseases and Drug Targeting
Aaron J. Ciechanover, Haifa, Israel
(Nobel prize in Chemistry 2004)

Pictures can be found here

14.00 - 15.30
Room Apollon
Plenary Session 5:
Chair: P.F. Pignatti, H.Brunner

Journal Awards
Young Investigator Awards
A list of Awardees of the 2007 Meeting as well as a picture gallery of the awarding ceremony can be found here.

ESHG Award Lecture by Andrea Ballabio: Adventures in Genetic Diseases: travelling from phenotypes to gene mutations on a return ticket

Pictures can be found here

Closing

Quick Jump to: Saturday - Sunday - Monday - Tuesday
 

Plenary Lectures Concurrent Symposia Concurrent Sessions Poster Discussions Workshops  Educational Sessions

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