Saturday, May 25, 2002 - Monday, May 27, 2002 - Tuesday, May 28, 2002 - Schedule

08.45 -
10.45
Erasme

PS07: Neonatal screening for CF: a 13 years experience in Brittany (France) (20')
C. Ferec, V. Scotet, M. de Braekeleer, M. P. Audrézet;
EMI-U 0115 - C.H.U., Brest, FRANCE

PS08: Lessons from the Newborn Screening Programme in Wales (20')
A. J. Clarke, E. Parsons, D. Bradley;
Department of Medical Genetics, University of Wales College of Medicine, Cardiff, Wales, UNITED KINGDOM

PS09: Predictive testing in minors (30')
A. M. Codori, K. L. Zawacki, G. M. Petersen, D. L. Miglioretti, J. A. Bacon, J. D. Trimbath, S. V. Booker, K. Picarello, F. M. Giardiello, A. M. Codori;
Johns Hopkins Hospital, Baltimore, MD, UNITED STATES

PS10: Carrier Testing in Childhood: Conflict or Compromise? (30')
C. Barnes;
Genetics Centre, Guy's & St. Thomas' Hospital Trust, London, UNITED KINGDOM

General Panel Discussion (20')
 

W 1 Syndrome identification 1
Organisers: D. Donnai, R. Winter

C 1 Prenatal Diagnosis and Genetic Services
Chair: J. Zaremba, I. Nisand

C01. Human Dignity: In Danger of Banality? (15')
B. Knoppers;
Université de Montréal, Montréal, PQ, CANADA. 

C02. Prenatal diagnosis (PND) in adult-onset disorders: survey of cases and attitudes in Portugal.  (15')
J. Sequeiros^1,2, J. Rocha^1,3, J. Pinto-Basto¹, J. Leal Loureiro^1,4, T. Coelho^1,5, A. Lopes^1,6;
¹UnIGENe-IBMC, Univ. Porto, PORTUGAL, ²ICBAS - Univ. Porto, Porto, PORTUGAL, ³C.Gen.Clín., Porto, PORTUGAL, ⁴Hosp.S.Teotónio, Viseu, PORTUGAL, ⁵H.G.S.António, Porto, PORTUGAL, ⁶H.M.Lemos, Porto, PORTUGAL. 

C03. External quality assessment in genetic testing reveals patterns of errors  (15')
S. Patton¹, R. Elles¹, D. Barton², E. Dequeker³, C. Mueller⁴, M. Losekoot⁵, B. Bakker⁵, B. Rautenstrauss⁶, M. Simoni⁷, V. Biancalana⁸, P. Vogt⁹, M. Voelckel¹⁰, D. Lohmann¹¹;
¹European Molecular Genetics Quality Network, Manchester, UNITED KINGDOM, ²National Centre for Medical Genetics, Dublin, IRELAND, ³University of Leuven, Leuven, BELGIUM, ⁴University of Wuerzburg, Wuerzburg, GERMANY, ⁵Leiden University Medical Centre, Leiden, NETHERLANDS, ⁶Universität Erlangen-Nürnberg, Erlangen, GERMANY, ⁷Institute of Reproductive Medicine of the University, Münster, GERMANY, ⁸University Louis Pasteur, Strasbourg, FRANCE, ⁹University of Heidelberg, Heidelberg, GERMANY, ¹⁰Hôpital d'enfants de la Timone, Marseille, FRANCE, ¹¹University of Essen, Essen, GERMANY. 

C04. Mendelian Cytogenetics Network database (MCNdb): New improved version.  (15')
K. R. Rasmussen¹, C. Lundsteen², H. Ropers³, N. Tommerup¹;
¹Wilhelm Johannsen Centre for Functional Genome Research, Panum Institute, University of Copenhagen, Copenhagen, DENMARK, ²Dept. of Clinical Genetics, Rigshospitalet, Copenhagen, DENMARK, ³Max-Planck-Institute for Molecular Genetics, Berlin, GERMANY. 

C05. A real time quantitative PCR test for trisomy 21  (15')
B. Zimmermann¹, W. Holzgreve¹, F. Wenzel², S. Hahn¹;
¹University Women's Hospital, Basel, SWITZERLAND, ²University of Basel, Basel, SWITZERLAND. 

C06. A telomere depletion assay for non-invasive prenatal diagnosis  (15')
M. A. Hulten, S. Dhanjal;
Warwick University, Coventry, UNITED KINGDOM. 
 

C07. Mutations of the RET / GDNF / HASH1 signalling pathway in congenital central hypoventilation syndrome (CCHS, Ondine's curse)  (15')
L. de Pontual¹, V. Nepote², T. Attié-Bitach¹, H. Trang², M. SIMONNEAU², M. Vekemans¹, A. Munnich¹, C. Gaultier², S. Lyonnet¹, J. Amiel¹;
¹Necker-Enfants Malades Hospital, Paris, FRANCE, ²R. Debré Hospital, Paris, FRANCE. 

C08. A rare RET haplotype acts as risk-modifier allele in Hirschsprung disease.  (15')
P. Griseri¹, B. Pesce¹, G. Patrone¹, F. Puppo¹, M. Sancandi¹, J. Osinga², R. Hofstra², M. Devoto³, R. Ravazzolo¹, I. Ceccherini¹;
¹Ist. G.Gaslini, Genova, ITALY, ²Dep. Medical genetics, Groningen, NETHERLANDS, ³Dip. Oncologia, Biologia e genetica, Genova, ITALY. 

C09. Meta-analysis of Celiac Disease genome screens  (15')
M. C. Babron¹, F. Clerget-Darpoux², H. Ascher³, P. Ciclitira⁴, J. Partanen⁵, L. M. Sollid⁶, L. Greco⁷;
¹INSERM U535, Le Kremlin Bicetre, FRANCE, ²INSERM U535, Le Kremlin-Bicêtre, FRANCE, ³Göteborg University, Göteborg, SWEDEN, ⁴St Thomas' Hospital, London, UNITED KINGDOM, ⁵Finnish Red Cross Blood Transfusion Service, Helsinki, FINLAND, ⁶University of Oslo, Oslo, NORWAY, ⁷University Federico II, Napoli, ITALY. 

C10. Genetic Dissection of the HLA Region using Haplotypes of Tasmanians with Multiple Sclerosis  (15')
J. P. Rubio^1,2, M. Bahlo^1,2, H. Butzkueven¹, I. A. F. van der Mei^3,2, M. M. Sale^3,2, J. L. Dickinson³, P. Groom^3,2, L. J. Johnson^1,2, R. D. Simmons⁴, B. Tait⁵, M. Varney⁵, B. Taylor⁶, T. Dwyer³, R. Williamson⁷, N. M. Gough⁸, T. J. Kilpatrick¹, T. P. Speed¹, S. J. Foote¹;
¹The Walter and Eliza Hall Institute of Medical Research, Melbourne, AUSTRALIA, ²The Cooperative Research Centre for the Discovery of Genes for Common Human Diseases, Melbourne, AUSTRALIA, ³Menzies Centre for Population Health Research, Hobart, AUSTRALIA, ⁴Australian National Register of MS families, Canberra, AUSTRALIA, ⁵The Victorian Transplantation and Immunogenetics service, Melbourne, AUSTRALIA, ⁶The Royal Hobart Hospital, Hobart, AUSTRALIA, ⁷Murdoch Children's Research Institute, Melbourne, AUSTRALIA, ⁸The Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Melbourne, AUSTRALIA. 

C11. Genetic epidemiology of carotid artery thickness in type 2 diabetes families of the Diabetes Heart Study  (15')
D. W. Bowden, C. D. Langefeld, L. A. Lange, L. E. Wagenknecht, J. J. Carr, B. I. Freedman, S. S. Rich;
Wake Forest University School of Medicine, Winston-Salem, NC. 

C12. Comparison of strategies to detect the role of a candidate gene  (15')
A. Jannot^1,2, L. Essioux², M. G. Reese², F. Clerget-Darpoux¹;
¹Unité INSERM 535, Le Kremlin-Bicêtre, FRANCE, ²ValiGen, La Défense, FRANCE. 
 

C13. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers  (15')
P. J. Hagerman¹, C. M. Greco¹, F. Tassone¹, A. Chudley², M. R. Del Bigio², S. Jacquemont¹, M. Leehey³, R. J. Hagerman¹;
¹University of California, Davis, School of Medicine, Davis, CA, ²University of Manitoba, Winnipeg, MB, CANADA, ³University of Colorado Health Sciences Center, Denver, CO. 

C14. The European XLMR consortium: goals, achievements and future prospects  (10')
B. C. J. Hamel;
University Medical Centre Nijmegen, Nijmegen, NETHERLANDS. 

C15. Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.  (10')
P. Stromme¹, M. E. Mangelsdorf^1,2, M. A. Shaw¹, K. M. Lower^1,2, S. M. S. Lewis³, H. Bruyere³, V. Lutcherath⁴, A. K. Gedeon¹, R. H. Wallace¹, I. E. Scheffer⁵, G. Turner⁶, M. Partington⁶, S. Frints⁷, J. Fryns⁷, G. R. Sutherland^1,2, J. C. Mulley^1,2, J. Gecz^1,2;
¹Women's and Children's Hospital, Adelaide, AUSTRALIA, ²University of Adelaide, Adelaide, AUSTRALIA, ³Children’s and Women’s Health Center of British Columbia and the University of British Columbia, Vancouver, BC, CANADA, ⁴Central Hospital of Rogaland, Stavanger, NORWAY, ⁵Monash Medical Centre and Royal Children’s Hospital, Melbourne, AUSTRALIA, ⁶Hunter Genetics and University of Newcastle, Waratah, AUSTRALIA, ⁷University Hospital Leuven, Leuven, BELGIUM. 

C16. ARX, a novel prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental deficiency  (10')
T. Bienvenu, K. Poirier, L. Ben Jeema, V. Desportes, C. Moraine, H. van Bokhoven, V. Kalscheuer, S. Frinyts, J. Gecz, H. Chaabouni, J. P. Fryns, C. Beldjord, J. Chelly;
Laboratoire de Génétique et Physiopathologie des Retards Mentaux. Institut Cochin. CHU Cochin, Paris, FRANCE. 

C17. Identification of a new MRX gene  (10')
I. Meloni¹, M. Muscettola¹, M. Raynaud², I. Longo¹, M. Bruttini¹, M. Moizard², M. Gomot², J. Chelly³, V. des Portes³, J. Fryns⁴, H. Ropers⁵, B. Magi⁶, C. Bellan⁷, N. Volpi⁸, H. G. Yntema⁹, S. E. Lewis¹⁰, J. E. Schaffer¹⁰, A. Renieri¹;
¹University of Siena, Dept. of Molecular Biology, Medical Genetics, Siena, ITALY, ²Service de Génétique, Inserm U316, Tours cédex, FRANCE, ³Inserm U129-ICGM, CHU Cochen, Paris, FRANCE, ⁴University of Leuven, Genetics Department, Leuven, BELGIUM, ⁵Max-Planck Institute for Molecular Genetics, Berlin, GERMANY, ⁶University of Siena, Department Molecular Biology, Biochemistry, Siena, ITALY, ⁷University of Siena, Pathology, Siena, ITALY, ⁸University of Siena, Department Biomedical Science, Siena, ITALY, ⁹Department of Human Genetics, Nijmegen, NETHERLANDS, ¹⁰Washington University, Departments of Internal Medicine, Molecular Biology & Pharmacology, St. Louis, MO. 

C18. Mutations in the Creatine Transporter Gene (SLC6A8) in Xq28 Cause X-Linked Mental Retardation: The Important Role of Creatine Metabolism in Brain Function  (10')
C. E. Schwartz¹, K. A. Hahn¹, G. S. Salomons², D. Tackels-Horne¹, T. C. Wood¹, H. A. Taylor¹, R. J. Schroer¹, H. A. Lubs³, C. Jakobs², R. L. Olson¹, K. R. Holden¹, R. E. Stevenson¹;
¹Greenwood Genetic Center, Greenwood, SC, ²VU University Medical Center, Amsterdam, NETHERLANDS, ³University of Miami School of Medicine, Miami, FL. 

C19. Mutation In Neurotrypsin is Responsible For Autosomal Recessive Non-specific Mental Retardation  (10')
F. Molinari, M. Rio, A. Munnich, L. Colleaux;
INSERM U393, Hopital Necker-Enfants Malades, Paris, FRANCE. 
 

S 1 Cognition and Behaviour (together with EMPAG)
Chair: D. Craufurd, D. Toniolo

S01. The study of behavioural phenotypes: implications for practice and management  (30')
A. Swillen, J. P. Fryns;
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, BELGIUM.

S02. The tortuous path from genotype to phenotype: genes and cognition in mutant mice  (30')
H. P. Lipp;
Institute of Anatomy, University of Zurich, Zurich, SWITZERLAND

S03. Fragile X Syndrome - its impact on families  (30')
B. Carmichael;
Genetic Nurse Specialist, Southend Hospital, Westcliff on Sea, UNITED KINGDOM
 

S04. Cancer gene discovery following the Human Genome Sequence  (30')
M. Stratton (Cambridge)

S05. Molecular genetics of prostate cancer  (30')
T. Visakorpi;
Institute of Medical Technology, University of Tampere, Tampere, FINLAND

S06. From cancer genomics to new cancer therapeutics  (30')
P. Workman;
CRC Centre for Cancer Therapeutics, The Institute for Cancer Research, Sutton, Surrey, UNITED KINGDOM
 

S07. Friedreich and other recessive ataxias  (30')
M. Koenig, H. Puccio, P. Bomont, M. C. Moreira, D. Simon, S. Klur, M. Gribaa, C. Lagier-Tourenne, M. Schmitt;
IGBMC (CNRS-INSERM-ULP), Illkirch, Strasbourg, FRANCE

S08. Friedreich’s Ataxia: Insights into the Mechanism and Prospects for a Therapy  (15')
P. Rustin, V. Geromel, N. Darin, A. Munnich, A. Rötig;
INSERM U-393 - Hopital Necker Enfants Malades, Paris, FRANCE

S09. Clinical trials for Friedreich Ataxia in adults  (15')
A. Durr (Paris)

S10. Functions and Biogenesis of Peroxisomes and the Metabolic and Molecular Basis of Peroximal Disorders  (30')
J. A. Wanders, H. R. Waterham;
Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Pediatrics/Emma Children’s Hospital and Clinical Chemistry, Amsterdam, NETHERLANDS
 

Saturday, May 25, 2002 - Monday, May 27, 2002 - Tuesday, May 28, 2002 - Schedule