Saturday, May 25, 2002 - Sunday, May 26, 2002 - Monday, May 27, 2002 - Schedule

S 7 Genome Organisation & Gene Expression
Chair: S. Antonarakis and V. van Heyningen

S21. Recent Duplication and the Dynamic Mutation of the Human Genome  (30')
E. E. Eichler;
Department of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland, OH, UNITED STATES

S22. The relationship between genome organisation and gene expression at a human telomeric region  (30')
D. R. Higgs;
Weatherall Institute of Molecular Medicine, Oxford, UNITED KINGDOM

S23. Chromosomal Elements Conferring Epigenetic Inheritance  (30')
C. Maurange, M. Prestel, G. Rank, L. Ringrose, H. Ehret, A. Kuhrs, R. Paro;
ZMBH, Universität Heidelberg, Heidelberg, GERMANY
 

S24. From Crohn Disease to IBD1  (30')
J.P. Hugot (Paris)

S25. The heritability of Type 1 Diabetes: genetic bases and molecular mechanisms  (30')
F. Cucca;
Dipartimento di Scienze Biomediche e Biotecnologie, University of Cagliari, Cagliari, ITALY

S26. Unravelling the genetics of thrombosis  (30')
J. M. Soria;
Unitat d'Hemostasi i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, SPAIN
 

S27. Repairing and protecting neurones, a dual goal for cell based therapy to the brain  (30')
M. Peschanski;
INSERM U421/IM3, Faculté de Médecine, Créteil, FRANCE

S28. Dysfunction of wild-type huntingtin in Huntington’s Disease  (30')
E. Cattaneo;
Department of Pharmacological Sciences and Center of Excellence on Neurodegenerative Diseases, University of Milano, Milan, ITALY

S29. Stem cells and functional neurogenesis in the adult brain  (30')
R. M. Cassidy;
Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, SWEDEN

10.15. -
10.45

C 7 Cancer Genetics
Chair: N.N.

C38. Implication of 9p21 deletion in 1p/19q-deleted oligodendrogliomas  (15') 
C. Godfraind¹, E. Rousseau^1,2, M. Ruchoux³, F. Scaravilli⁴, M. Vikkula²;
¹Division of Neuropathology, Cliniques universitaires St-Luc, Université catholique de Louvain, Brussels, BELGIUM, ²Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université catholique de Louvain, Brussels, BELGIUM, ³Department of Neuropathology, Hôpital R. Salingro, Lille, FRANCE, ⁴Institute of Neuropathology, London, UNITED KINGDOM. 

C39. Cyclin L/Ania-6a, a Gene located at 3q25, is amplified and overexpressed in a Head and Neck Cancer Cell Line.  (15') 
R. Redon¹, T. Hussenet¹, K. Caulee¹, D. Muller², J. Abecassis², S. du Manoir¹;
¹IGBMC, Illkirch, FRANCE, ²Centre Paul Strauss, Strasbourg, FRANCE. 

C40. Functional analysis of MMR gene mutations linked to hereditary non-polyposis colorectal cancer  (15') 
M. Nyström-Lahti, R. Kariola, T. Raevaara, K. Lönnqvist;
University of Helsinki, Helsinki, FINLAND. 

C41. CHK2 1100delC is a low penetrance breast cancer susceptibility allele in non-carriers of BRCA1 or BRCA2 mutations  (15') 
N. Rahman¹, H. Meijers-Heijboer², M. Schutte², N. Sodha¹, D. F. Easton³, M. R. Stratton and the Breast Cancer Linkage Consortium^1,4;
¹Institute of Cancer Research, Surrey, UNITED KINGDOM, ²Erasmus Medical Center, Rotterdam, NETHERLANDS, ³CRC Genetic Epidemiology Unit, Cambridge, UNITED KINGDOM, ⁴Wellcome Trust Sanger Institute, Cambridge, UNITED KINGDOM. 

C42. Heterozygosity for the NBS founder mutation in cancer patients of Czech origin.  (15') 
E. Seemanová¹, P. Jarolím², J. Janda¹, J. Koutecký¹, J. Starý³, P. Seeman¹, R. Varon⁴, K. Sperling⁴;
¹Charles University, Prague, CZECH REPUBLIC, ²Institute of Haematology and Blood Transfusion, Prague, CZECH REPUBLIC, ³University Hospital Motol, Prague, CZECH REPUBLIC, ⁴Humboldt University, Berlin, GERMANY. 

C43. BCR/ABL D-FISH should be a mandatory examination for primary diagnosis of CML  (15') 
H. C. Duba¹, T. Kühr², A. Mehringer¹, M. Erdel¹, G. Utermann¹, J. Thaler²;
¹Inst.f.Med.Biologie und Humangenetik, Innsbruck, AUSTRIA, ²IV. Interne Abteilung, A.ö.Krankenhaus der Kreuzschwestern, Wels, AUSTRIA. 
 

C44. Long-Term Efficacy and Safety of Enzyme Replacement Therapy in Fabry Disease  (15') 
D. P. Germain¹, L. Caplan², C. M. Eng³, N. Guffon⁴, P. Lee⁵, G. Linthorst⁶, S. Waldeck⁷, W. R. Wilcox⁸, R. J. Desnick⁹;
¹Hopital Européen Georges Pompidou, Paris, FRANCE, ²Beath Israel Deaconess Medical Center, Boston, MA, ³Baylor College of Medicine, Houston, TX, ⁴Hopital Edouard Herriot, Lyon, FRANCE, ⁵University College Hospital, London, UNITED KINGDOM, ⁶Academisch Medisch Centrum, Amsterdam, NETHERLANDS, ⁷Hope Hospital Salford, Manchester, UNITED KINGDOM, ⁸Cedars-Sinai Burns and Allen Research Institute, Los Angeles, CA, ⁹Mount Sinai School of Medicine, New York, NY. 

C45. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy  (15') 
L. Van Maldergem¹, J. Magré², T. Gedde-Dahl Jr³, E. Khallouf⁴, M. Lathrop⁵, J. Capeau², S. O'Rahilly⁶, .. and the Berardinelli-Seip Group¹;
¹Institut de Pathologie et de Génétique, Loverval, BELGIUM, ²Inserm U 402, Faculté de Médecine Saint Antoine, Paris, FRANCE, ³Institute of Forensic Medicine, Rikshospitalet, Oslo, NORWAY, ⁴Hotel-Dieu de France, Beirut, LEBANON, ⁵Centre de Génotypage, Evry, FRANCE, ⁶Department of Medicine and Clinical Biochemistry, Addenbrooke's Hospital, Cambridge, UNITED KINGDOM. 

C46. Lamin A/C mutations in Charcot-Marie-Tooth disorder identify a novel laminopathy in human and mouse  (15') 
N. Levy¹, A. De Sandre-Giovannoli¹, M. Chaouch², S. Kozlov³, J. Vallat⁴, M. Tazir⁵, N. Kassouri², P. Szepetowski¹, T. Hammadouche⁶, I. Boccaccio¹, D. Grid⁷, C. L. Stewart³;
¹Inserm U491 : Génétique Médicale et Développement, Faculté de médecine de la Timone, Marseille, FRANCE, ²Service de Neurologie, CHU Ben Aknoun, Alger, ALGERIA, ³Cancer and Developmental Biology laboratory, NCI-Frederick, Frederick, MD, ⁴Service de neuropathologie, CHU Dupuytren, Limoges, FRANCE, ⁵Service de neurologie, CHU Mustapha, Alger, ALGERIA, ⁶Institut Pasteur, Alger, ALGERIA, ⁷Genethon III, Evry, FRANCE. 

C47. Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1  (15') 
H. R. Waterham, A. Motley, P. Brites, L. Gerez, E. Hogenhout, J. Haasjes, R. Benne, H. F. Tabak, R. J. A. Wanders;
Academic Medical Center, University of Amsterdam, Amsterdam, NETHERLANDS. 

C48. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry  (15') 
H. Olbrich¹, K. Häffner¹, K. Andreas², A. Völkel¹, G. Sasmaz¹, R. Reinhardt³, S. Hennig³, H. Lehrach³, N. Konietzko⁴, M. Zariwala⁵, P. G. Noone⁵, M. Knowles⁵, H. M. Mitchison⁶, M. Meeks⁶, E. M. K. Chung⁶, F. Hildebrandt¹, R. Sudbrak³, H. Omran¹;
¹University Children's Hospital, Freiburg, GERMANY, ²Medizinische Hochschule, Hannover, GERMANY, ³Max-Planck Institute for Molecular Genetics, Berlin, GERMANY, ⁴Ruhrland-Klinik, Essen, GERMANY, ⁵University of North Carolina, Chapel Hill, NC, ⁶Royal Free and University College, London, UNITED KINGDOM. 

C49. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz Syndrome  (15') 
M. Witsch-Baumgartner¹, M. Gruber¹, P. Clayton², N. Clusellas³, D. Haas⁴, R. Kelley⁵, M. Giros³, H. Kraft¹, M. Krajewska-Walasek⁶, G. Utermann¹;
¹Institute of Medical Biology and Human Genetics, Innsbruck, AUSTRIA, ²Great Ormond Street Hospital for Children NHS Trust, London, UNITED KINGDOM, ³Institut Bioquimica Clinica, Barcelona, SPAIN, ⁴Department of Neuropediatrics and Metabolic Disease, University of Marburg, Marburg, GERMANY, ⁵Kennnedy Krieger Institute, Baltimore, MD, ⁶Department of Medical Genetics, The Children's Memorial Health Institute, Warszawa, POLAND. 
 

C50. Knockout mice carrying a deletion of the Mental Retardation gene Gdi1 show impaired associative memory and altered social behavior  (15') 
D. Toniolo¹, P. D'Adamo², H. Welzl³, H. Lipp⁴, P. Chapman⁵, C. Tiveron⁶, D. Bottai¹, F. Valtorta⁷, F. Valtorta⁷, F. Valtorta⁷, F. Valtorta⁷;
¹IGBE-CNR, Pavia, ITALY, ²Dept. of Anatomy, University of Zurich, Zurich, SWITZERLAND, ³Dept. of Anatomy, U.of Zurich, Zurich, SWITZERLAND, ⁴Dept. of Anatomy, U. of Zurich, Zurich, SWITZERLAND, ⁵University of Cardiff, Cardiff, UNITED KINGDOM, ⁶Regina Elena Institute, Rome, ITALY, ⁷DIBIT-HSR, Milano, ITALY. 

C51. The role of different mutations found in Opitz BBB/G syndrome patients on MID1 protein function  (15') 
S. Schweiger¹, A. Trockenbacher², T. Lehmann¹, J. Winter¹, V. Suckow¹, S. Krauß¹, F. Majewski³, J. L. Whittaker⁴, H. H. Ropers¹, R. Schneider²;
¹Max-Planck Institute for Molecular Genetics, Berlin, GERMANY, ²Institute of Biochemistry, Innsbruck, AUSTRIA, ³University of Düsseldorf, Düsseldorf, GERMANY, ⁴Addenbrooke's NHS Trust, Cambridge, UNITED KINGDOM. 

C52. ATRX and CBP gene silencing in human neuronal precursor cells by RNA interference  (15') 
F. Megiorni, P. Indovina, B. Mora, M. Mazzilli;
Dept. of Experimental Medicine and Pathology - University 'La Sapienza', Rome, ITALY. 

C53. Transcriptome and Transcriptosomes: Gene Expression Analysis in Human Autosomal Aneuploidy  (15') 
D. R. FitzPatrick¹, N. McGill¹, M. Shade², A. Carothers¹, N. Hastie¹;
¹MRC Human Genetics Unit, Edinburgh, UNITED KINGDOM, ²Lothian Regional Cytogenetics Laboratory, Edinburgh, UNITED KINGDOM. 

C54. Expression Atlas of the mouse orthologues of the human chromosome 21 genes  (15') 
A. Reymond¹, V. Marigo², M. Yaylaoglu³, A. Leoni², C. Ucla¹, N. Scamuffa¹, S. Banfi², R. Lyle¹, C. Caccioppoli², G. Eichele³, S. E. Antonarakis¹, A. Ballabio²;
¹Division of Medical Genetics, University of Geneva Medical School, Geneva, SWITZERLAND, ²TIGEM, Naples, ITALY, ³Max Planck Institute, Hannover, GERMANY. 

C55. Human mitochondrial DNA diversity in the Near and Middle East and in northeastern Africa: a phylogeographic approach  (15') 
E. Metspalu¹, M. Reidla², J. Parik², T. Kivisild³, K. Tambets³, E. Usanga⁴, R. Villems³;
¹Tartu University and Estonian Biocentre, Tartu, ESTONIA, ²Tartu University, Tartu, ESTONIA, ³Estonian Biocentre, Tartu, ESTONIA, ⁴University of Kuwait, Kuwait, KUWAIT. 
 

3 Late Breaking Research Presentations   (15' each)

Baschirotto Lecture 2002
PS14: Gene discovery in cancer: who benefits?  (50')
A. de la Chapelle^1,2;
¹Human Cancer Genetics Program, The Ohio State University, Columbus, OH, UNITED STATES, ²Folkhälsan Institute of Genetics, Helsinki, FINLAND
 

Saturday, May 25, 2002 - Sunday, May 26, 2002 - Monday, May 27, 2002 - Schedule