Invited Speakers: Speakers see program
Program:
Program - Saturday, May 17
14:00 - 20:00
Registration
Visit to the Van Dyck special exhibition
18:00 - 20:00
Opening ceremony
20:00
Welcome party
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Scientific Program - Sunday, May 18
08:30 - 10:45
Plenary Session
.........Chair: Giovanni Romeo (Genoa and Lyon) and Antonio Cao (Cagliari)
.........Award of the Mauro Baschirotto Prize to Dr. Leena Peltonen
.........Genetic Isolates and Identification of Disease Genes
.........L. PELTONEN (Helsinki): From locus assignment towards molecular
.........pathogenesis: lessons from Finnish diseases
.........C. PETIT (Paris): Molecular basis of human sensorineural defects
.........Human Molecular Evolution
.........A. DI RIENZO (Rome and Chicago): Microsatellite variation and
.........human evolution
.........S. PÄÄBO (Munich): A genetic perspective on European history
10:45 - 11:15
Coffee
11:15 - 12:30
Poster viewing
12:30 - 14:00
Lunch
14:00 - 15:30
Concurrent slide sessions
Session 1, Clinical Genetics 1
.........Chairs: Peter Farndon (Birmingham) and Enrico Gandini (Ferrara)
.........S. SCHUFFENHAUER et al.: Deletion mapping in patients with partial
.........monosomy 10p-determinationof a critical region for Di George and
.........velocardiofacial syndrome.
.........V. CAPRA et al.: Segmental vertebral malformations with rare forms
.........of neural tube defects.
.........T. GOECKE et al.: Genetic counseling of families with
.........breast/ovarian cancer.
.........M. JANSEN et al.: Increased number of fetal cells isolated from
.........maternal blood after chorionic villus sampling.
.........A.K. RYAN et al.: Spectrum of clinical features associated with
.........interstitial chromosome 22q11 deletions: a European collaborative
.........study.
.........V. SEROR et al.: Analysis of decision rules consecutive to
.........cost-benefit analysis of maternal serum markers screening for Down
.........syndrome.
Session 2, Molecular Genetics 1
.........Chair: Charles Buys (Groningen) and Giovanni Neri (Rome)
.........M.P. SIMON et al.: Deregulation of the platelet-derived growth
.........vfactor B-chain gene (PDGFB) via its fusion with collagen gene in
.........Dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
.........M.P. SIMON et al.: Identification of genes involved in the
.........cerebral cortex formation using differential display RT-PCR.
.........H. KOUTNIKOVA et al.: Studies of mouse and yeast homologues
.........indicate a mitochondrial function for the Friedreich ataxia gene.
.........S. JIRALERSPONG et al.: Frataxin is a mitochondrial protein with
.........developmentally regulated tissue-specific expression.
.........L. MONTERMINI et al.: Premutation and normal alleles of the
.........Friedreich ataxia GAA triple repeat
.........Short mapping papers
.........M. JUNG et al.: Mapping of a gene for keratolytic winter erythema
.........(Oudtshoorn skin disease) to chromosome 8p22-p23.
.........T. LAUTEALA et al.: Assignment of the locus for lysinuric protein
.........intolerance (LPI) to chromosome 14
.........J.D. SHARP et al.: Loci for classical and a variant late
.........infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15
.........and 15q21-23
.........P. BYRNE et al.: Clinically different forms of hereditary
Session 3, New Approaches
.........Chair: Stylianos Antonarakis (Geneva) and Pier Franco Pignatti (Verona)
.........P. FORTINA et al.: PCR and multiplex PCR in an integrated sample
.........preparation-PCR silicon microchip.
.........S . HIGGINS et al.: DNA diagnostics by mass spectrometry
.........M.A. RESNICK et al.: Two novel approaches for characterizing human
.........genes: direct isolation of chromosomal genes by TAR cloning and
.........functional identification of expressed cDNAs.
.........V. FLOCH et al.: Optimization of gene transfer using new
.........cationic phosphonolipids in hematopoietic cells line (K562).
.........V . TIRANTI et al.: Identification of the human mitochondrial RNA
.........polymerase using yeast cyberprobes to screen the EST database.
.........V . HAYES et al.: A novel mutation detection system reveals a high
.........mutation detection rate outside the hotspot region of TP53.
15:30 - 16:30
Coffee and poster viewing
16:30 - 18:00
Concurrent Symposia
Symposium 1: DNA Repair and Cancer Susceptibility
.........Chair: Thomas Meitinger (Munich) and Franco Ajmar (Genoa)
.........Y. SHILOH (Tel Aviv): Ataxia telangiectasia
.........S. WEST (London) : Homologous recombination: conservation from
.........bacteria to man
.........Selected abstract
.........A. SMITH et al: Nuclear foci of RAD51 recombination protein after
.........DNA damage and its role in programmed cell death
Symposium 2: Genome Analysis and Disease Gene Identification
.........Chair: Andrew Read (Manchester) and Sergio Curtoni (Turin)
.........P. GOODFELLOW (Cambridge): Genome mapping by radiation hybrids
.........A. MONACO (Oxford): Positional cloning of disease genes: from
.........monogenic to polygenic loci
.........O. RITTER (Heidelberg): Megabases and megabytes: informatics in
.........genome research
18:00 - 20:00
Public awareness symposium
.........Genetic Research and the Peer Review System in Europe
.........Moderators: M. Bobrow (Cambridge), G. Romeo (Genoa and Lyon)
.........Panellists: L. Philipson (New York), J. Maddox (London), M. Hallen
.........(Brussels), P. Lazar (Paris), L. L.Cavalli-Sforza (Stanford and Trieste)
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Scientific Program - Monday, May 19
08:30 - 10:30
Plenary Session
.........Chairs: Ségolène Aymé (Villejuif) and Romano Tenconi (Padova)
.........Confrontation of Experiences on the Feasibility of Gene Therapy
.........L. NOTARANGELO (Brescia): The current status of gene therapy versus
.........other innovative approaches in the treatment of primary
.........immunodeficiencies: an overview
.........M. CAVAZZANA-CALVO (Paris): Preclinical models of retrovirus-
.........mediated IL-2 receptor gamma chain gene transfer into SCID-X cells.
.........A. THRASHER (London): Gene therapy for chronic granulomatous
.........disease: model and prospect
.........V. A. McKUSICK (Baltimore): Gene therapy: commentary and opinion.
10:30 - 11:00
Coffee
11:00 - 12:30
Poster viewing
12:30 - 14:00
Lunch
14:00 - 15:30
Concurrent slide sessions
Session 4, Cytogenetics
.........Chairs: Michel Vekemans (Paris) and Bruno Dallapiccola (Rome)
.........C. DELOZIER-BLANCHET et al.: Uniparental disomy research after
.........discrepant CVS results: the EUCROMIC 1986-1996.
.........J. DELHANTY et al.: Infertility in Robertsonian translocation carriers
.........investigated by the analysis of preimplantation embryos by FISH.
.........L. TAINE et al.: Submicroscopic deletion of chromosome 16p13.3 in
.........French patients with Rubinstein-Taybi syndrome.
.........D.E. MCFADDEN et al.: Meiotic origin of triploidy.
.........J. WIRTH et al.: Cytogenetically and genetically anchored FISH probes
.........for the identification of disease-associated chromosome breakpoints.
.........W.P. ROBINSON et al.: Maternal age and recombination associated with
.........chromosome 15 nondisjunction.
Session 5, Developmental Genetics
.........Chairs: Robin Winter (London) and Luigi Varesio (Genoa)
.........M.T. BASSI et al.: Nucleotide substitutions in LEFTY and NODAL
.........are associated with severe heart defects, asplenia, and other
.........manifestations of situs ambiguous.
.........V. MARIGO et al.: he Sonic Hedgehog signaling pathway in
.........development and human diseases
.........P. FARNDON et al.: Mutations in patched and variable clinical
.........phenotypes found in naevoid basal cell carcinoma syndrome.
.........E. TRIVIER et al.: Coffin-Lowry syndrome is caused by mutations in
.........the Ser/Thr kinase RSK-2.
.........Short mapping papers
.........W. VAN HUL et al.: The Albers-Schönberg disease (autosomal dominant
.........osteopetrosis) gene is located on chromosome 1p21 in a region
.........containing the macrophage colony stimulating factor (CSF-1) gene.
.........K. VERHOEVEN et al.: Linkage of autosomal dominant non- syndromic
.........hearing loss (DFNA12) to the long arm of chromosome 11.
.........N. MAGAL et al.: A gene for arthrogryposis multiplex
.........congenita-neuropathic is linked to D5S394 on chromosome 5qter
.........U. RADHAKRISHNA et al.: Mapping one form of autosomal dominant
.........postaxial polydactyly type-A (PAP-A) to chromosome 7p15-q11.23 by
.........linkage analysis
Session 6, Quantitative Genetics
.........Chairs: Marcella Devoto (Genoa) and Alberto Piazza (Turin)
.........J. BERTRANPETIT et al.: Evolutionary patterns of human Y chromosome
.........through short tandem repeat analysis.
.........D. CUSI et al.: Linkage and association study of alpha-adducin
.........polymorphism in primary hypertension. Relationship to salt
.........sensitivity.
.........J. HAGER et al.: Polymorphism in the 5' UTR region of the uman OB
.........gene is associated with morbid obesity and low leptine levels
.........V. STEPANOV et al.: Genetic determinants of lipid levels: complex
.........influence of apolipoprotein B (APOB) gene variation on lipid
.........spectrum.
.........Y. SHUGART et al.: Effects of map density, sibship size and
.........computational approach on the power to detect QTLs.
.........M. D'ALESSANDRO et al.: Heterozygote advantage in merosin-
.........deficient congenital muscular dystrophy.
15:30 - 16:30
Coffee and poster viewing
16:30 - 18:00
Concurrent Symposia
Symposium 3: Neuromuscular Disorders
.........Chairs: Gert Jan van Ommen (Leiden) and Gian Antonio Danieli
.........(Padova)
.........K. DAVIES (Oxford): Molecular analysis of Duchenne muscular dystrophy
.........Selected abstracts
.........C. SEWRY et al.: Clinical and mutational analysis in a case of a
.........mild muscular dystrophy due to partial merosin-deficiency.
.........S. LEFEBVRE et al.: The survival of motor neuron protein (SMN): the
.........primary defect in spinal muscular atrophy.
.........B. WIRTH et al.: High de novo deletion frequency in patients with
.........Spinal Muscular Atrophy: parental origin, underlying mechanisms and
.........implications for prenatal diagnosis.
Symposium 4: Imprinting
.........Chairs: Bernhard Horsthemke (Essen) and Pier Luigi Mattiuz (Florence)
.........W. REIK (Cambridge): Normal and abnormal regulation of IGF2 imprinting
.........Selected abstracts
.........BEAUDET et al.: Truncating mutations in E6-AP ubiquitin- protein
.........ligase (UBE3A) cause sporadic and inherited Angelman syndrome.
.........J. WAGSTAFF et al.: UBE3A/E6-AP mutations cause Angelman syndrome.
.........B. HORSTHEMKE: Imprinting mutations in AS and PWS
.........A. RIESEWIJK et al.: Monoallelic expression of human PEG1 is
.........paralleled by parent-specific methylation.
18:00
Business Meeting of the ESHG
21:00
Musical Event at the Carlo Felice Theatre
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Scientific Program - Tuesday, May 20
08:30 - 10:30
Plenary Session
.........Chairs: Malcolm Ferguson Smith (Cambridge) and Angelo Carbonara
.........(Turin)
.........From Inborn Errors of Metabolism to Molecular Genetics and back
.........to the Clinic.
.........J. M. SAUDUBRAY (Paris): Correlations genotype to phenotype:
.........clinical implications in inborn errors of metabolism.
.........L. SHAPIRO (San Francisco): Steroid sulfatase deficiency:
.........genetic, endocrine and dermatological aspects.
.........BWEE-TIEN POLL-THE (Utrecht): Genotype-phenotype correlations
.........in peroxisomal disorders
.........I. DIANZANI (Turin): Phenotyping versus genotyping in
.........phenylketonuria and other hyperphenylalaninemias
10:30 - 12:30
Coffee and poster viewing
12:30 - 14:00
Lunch
14:00 - 15:30
Concurrent slide sessions
Session 7: Clinical Genetics 2
.........Chairs: Heloisa Santos (Lisbon) and Elisa Calzolari (Ferrara)
.........H. KÄÄRIAINEN et al.: A retrospective study of genetic carrier
.........testing in childhood
.........J. GOODSHIP et al.: Haemolytic uraemic syndrome maps to
.........chromosome 1q and is associated with mutations in the
.........complement factor H gene.
.........M. NEERMAN-ARBEZ et al.: The locus of combined factor
.........V-factor VIII deficiency maps to 18q in a 3 cM interval between
.........D18S849 and D18S64.
.........R. NEWBURY-ECOB et al.: The Holt-Oram syndrome (HOS) is caused
.........by mutations in TBX5, a member of the Brachyury (T) gene family.
.........L. Ruzzi et al.: A homozygous mutation in the gene encoding
.........integrin alpha6 in junctional epidermolysis bullosa with
.........pyloric atresia.
.........F. SANTORELLI et al.: Mitochondrial DNA mutations in familial
.........cardiomyopathies.
Session 8: Molecular Genetics 2
.........Chairs: Carolina Monteiro (Lisbon) and Mario Savi (Parma)
.........M.D. LALIOTI et al.: A novel mutation mechanism, a 12-mer
.........repeat expansion, is the most frequent cause of progressive
.........myoclonus epilepsy (EPM1), in patients from different origins.
.........P. BOURGEOIS et al.: A new turn for the twist gene family : H-
.........twist is implied in the Saethre-Chotzen syndrome, and the
.........murine knock-out phenotype mimics the human pathology.
.........K. SAAR et al.: Nijmegen and Berlin breakage syndromes are
.........caused by mutations in the same gene mapping to chromosome 8q21.
.........A.M. JOUANOLLE et. al.: Hemochromatosis candidate gene:
.........frequency of the C282Y and H63D mutations in the population
.........from Britanny.
.........Short mapping papers
.........F. ELMSLIC et al.: Genetic mapping of a major susceptibility locus
.........for juvenile myoclonic epilepsy on chromosome 15q
.........S. STRAUTNIEKS et al.: Identification of a second locus for
.........progressive familial intrahepatic cholestasis on chromosome 2q24.
.........M.W. LAASS et al.: Papillon-Lefèvre syndrome: Localisation of
.........a gene to chromosome 11q14-21 by homozygosity mapping.
.........F. CAPON et al.: Autosomal dominant muscular dystrophy with
.........rimmed vacuoles: description and chromosome localisation of a
.........new clinical entity.
Session 9: Gene Function
.........Chairs: Jean-Jacques Cassiman (Leuven) and Cesare Danesino (Pavia)
.........R. BOCCIARDI et al.: The MEN 2B mutation switches the specificity
.........of the Ret kinase towards cellular substrates that are susceptible
.........to interact with Crk and Nck.
.........G. MERONI et al.: Biochemical characterization of arylsulfatase E
.........and functional analysis of mutations found in patients with CDPX.
.........M. MUNARO et al.: Cell complementation classes in Leigh's disease.
.........E. RUGARLI et al.: Functional characterization of the Kallmann
.........syndrome gene.
.........J. GECZ et al.: Molecular expression studies, gene structure
.........and localisation of the FMR2 gene, a gene associated with FRAXE
.........nonspecific mental retardation.
.........A. JALANKO et al.: Targeted disruption of mouse aspartyl-
.........glucosamidase gene with human aspartylglucosaminuria mutation
.........results in a lysosomal storage disease similar to humans.
15:30 - 16:00
Coffee break
16:00 - 17:00
Concurrent Symposia
Symposium 5: Pharmacogenetics and Teratogenetics
.........Chairs: Albert Schinzel (Zurich) and Lidia Arizza (Milan)
.........U. A. MEYER (Basel): Pharmacogenetics, ecogenetics and disease risk
.........Selected abstract
.........X. ESTIVILL et al.: Progressive sensorineural deafness is
.........associated with the mitochondrial DNA 1555G mutation in the 12S
.........RNA and is enhanced by treatment with aminoglycosides.
Symposium 6: Comparative Aspects of Development
.........Chairs: Andrea Ballabio (Milan) and Patricia Ricchiardi (Turin)
.........R. BALLING (Munich): The role of Pax genes in skeletal development
.........E. BONCINELLI (Milan): OTX and Emx homeogenes in the developing brain
17:00 - 18:30
Plenary Session
.........Late Breakthroughs and Young Scientists Awards for Poster and
.........Spoken Presentation
.........Closing Address: M. Ferguson-Smith (President of ESHG for 1997/1998)
Registration :
http://alpha.csita.unige.it./ESHG97/pages/regsform.html
Deadline for Abstracts: April 10, 1997 (Latebreaking Research Presentations)
Email for Requests and Registration: genetica@unige.it