OMIM
Online Mendelian Inheritance
in Man
Thursday, June 1, 2000
16.00-19.30
Registration
17.45
Visit Leonardos "Last Supper"
19.30
Welcome Party
08.30 Registration
09.00-09.15
INTRODUCTION
Jacopo Meldolesi, President of the Italian Society of Neuroscience
(SINS)
09.15-10.00
UNTRANSLATED
REPEATS (not getting into proteins)
Plenary: Jean-Louis Mandel (IGBMC, Strasbourg, France)
"Untranslated repeats leading to a loss of function:
the cases of the fragile X syndrome and Friedreich ataxia"
Introduced by Franco Taroni
10.00-11.15
1st Symposium on untranslated repeats: Genetic and Clinical
aspects
Chairpersons: Ben A. Oostra, Franco Taroni
- Analysis of SCA8, SCA12 and detection of expanded repeats by RED on ADCA italian patients. Brusco A, Cagnoli C, Dragone E, Grosso E, Orsi L, Franco A, Mortara P, Migone N. (Torino).
- Search for trinucleotide sequences in the SPG9 critical region on 10q23.3-24.2. Lo Nigro C, Cusano R, Scaranari M, Ravazzolo R, Seri M. (Genova).
- Optimization of the molecular test for FRAXA/FRAXE expansion: results from a survey of 450 mentally retarded patients. Russo S, Cogliati F, Cavalleri F, Selicorni A, Natacci F, Larizza L. (Milano).
- Chromosome instability in patients with myotonic dystrophy. Simi S, Simili M, Beffy P, Rovero P, Nuti S, Rossi B, Chisari C, Pellegrino M, Pellegrini M, del Carlo B. (Pisa).
- Inverse relationship between COQ10 vs phenotype and genotype classes in Steinerts disease. Mancuso M, Tedeschi D, Lombardi V, Ducci M, Rocchi A, Renna M, Sighieri C, Martelli F, Siciliano G. (Pisa).
- The natural history of cardiac involvement in myotonic dystrophy and its correlation with CTG repeats. a prospective study. Antonini G, Ceschin V, Gragnani F, Clemenzi A, Morino S, Amicucci P, Gennarelli M, Fragola P, Mammarella A. (Roma).
- Screening and prenatal diagnosis of myotonic dystrophy patients using a non-radioactive method. Brugnoni R, Morandi L, Cornelio F, Mantegazza R. (Milan).
- Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. (Roma).
11.15-11.45
Coffee break
11.45-13.00
2nd Symposium on untranslated repeats: Biological aspects and Pathogenesis
Chairpersons: Jean-Louis Mandel, Elena Cattaneo
- Molecular and cellular models for the pathogenesis of Friedreich's ataxia. Taroni F, Airoldi R, Barisani D, Cavadini P, Isaya G, Cortopassi G (Milano)
- Frataxin gene and gene product expression in rat and monkey central nervous system. Giavazzi B, Taroni F, Battaglia G (Milano)
- Oxidative stress in Friedreichs ataxia. Tozzi G, Pastore A, Tagliacozzi D, Carrozzo R, Santorelli F, Casali C, Bertini E, Piemonte F. (Roma).
- Two novel proteins expressed in neurons and interacting with the Fragile X mental retardation (FMR1) protein. Bardoni B, Schenck A, Mandel JL. (Strasbourg, France).
- Oxidative stress in myotonic dystrophy. Toscano A, Rodolico C, Annesi G, Campo G, Messina S, Musumeci O, Vita G. (Messina).
- Decreased expression of myotonic dystrophy protein kinase isoforms in the skeletal muscles in myotonic dystrophy. Salvatori S, Fanin M, Menegazzo E, Furlan S, Schiavon G, Gennarelli M, Angelini C. (Padova).
13.00-14.30 Lunch
Friday, June 2, 2000 - afternoon session
14.30-15.15
TRANSLATED REPEATS (getting into proteins)
Plenary: Kenneth H. Fischbeck (NINDS, NIH, Bethesda, USA)
"Polyglutamine diseases (with an emphasis on SBMA)"
Introduced by Angelo Poletti
15.15-16.30
1st Symposium on translated repeats: Genetic and Clinical aspects
I
Chairpersons: Stefano DiDonato, Marina Frontali
- SCA genes distribution in ADCA italian families. Gellera C, Mariotti C, Mazzucchelli F, Castucci A, Riggio MC, Di Donato S. (Milano)
- Spinocerebellar ataxia 3 (SCA3) in Italy: is the disease frequency related to the population distribution of normal alleles? Sabbadini G, Veneziano L, Stocchi F, Pace A, Spadaro M, Jacopini AG, Pergola MS, Frontali M (Roma).
- Spinocerebellar ataxia type 6 (SCA6) in the context of poly-Q disorders and of channellopathies. Frontali M, Guida S, Veneziano L, Mantuano E, DUrbano L, Jodice C. (Roma)
- CACNA1A gene plasticity: cloning of the P-type cDNA including the polyQ tract. Carrera P, Stenirri S, Ferrari M. (Milano).
- An italian family with autosomal dominant cerebellar ataxia: peculiar phenotype due to a novel polyglutamine expansion? De Michele G, Servadio A, Castaldo I, Pettenella F, Razzini R, Cocozza S, Filla A. (Napoli)
- Clinical and molecular studies of italian patients with sporadic and hereditary ataxia. Forleo P, Cellini E, Tedde A, Nacmias B, Piacentini S, Sorbi S. (Firenze)
- Clinical and molecular findings in an italian family with dentatorubral-pallidoluysian atrophy (DRPLA). Villani F, Gellera C, Spreafico R, Castellotti B, Casazza M, Carrara F, Avanzini G.(Milano)
- GCG expansions in the poly(A) binding protein 2 (PABP2) gene in italian patients with oculopharyngeal muscular dystrophy. Mirabella M, Silvestri G, de Rosa G, Di Giovanni S, Di Muzio A, Uncini A, Tonali P, Servidei S. (Roma).
16.30-17.00
Coffee break
17.00-18.15 2nd
Symposium on translated repeats: Biological aspects and
Pathogenesis.
Chairpersons: Kenneth H. Fischbeck, Sergio Barlati
- Delineating early molecular events in Huntingtons disease. Persichetti F, Wheeler VC, Trettel F, Vrbanac V, Lebel L, MacDonald ME. (Charlestown, MA, USA).
- Nuclear and cytoplasmic location of huntingtin in embryonic neurons suggests multiple functions. Trettel F, Peresichetti F, Rigamonti D, Cattaneo E, MacDonald ME. (Charlestown, MA, USA)
- Aggregation of androgen receptor containing the elongated polyglutamine tract and motorneuronal survival. Piccioni F, Simeoni S, Pinton P, Rizzuto R, Seveso V, Poletti A. (Milano).
- Inducible transgenic mice for the study of Spinocerebellar ataxia type 1. Castano F, Giovannoni R, Servadio A. (Milano)
- Transglutaminase in rat and human brain, light and electron immunocytochemical analysis and in situ hybridization study. Sellitti S, Perrone Capano C, Maggio N, Papa M (Napoli).
18.15-18.45
Round Table
20.30
Social Dinner
Saturday, June 3, 2000 - morning session
8.45-9.30 CELLULAR
AND ANIMAL MODELS OF TRIPLET REPEAT DISEASES
Plenary: Henry L. Paulson (Univ. of Iowa Coll Medicine, Iowa City,
USA)
"Molecular and pathological studies of Spinocerebellar ataxia type
3"
Introduced by Antonio Servadio
9.30-10.50 3rd Symposium on translated
repeats: Genetic and Clinical aspects II
Chairpersons: Massimo Franceschi, Maurizio Ferrari
- Genetic factors influencing at onset age and symptoms in Huntington's disease (HD). Squitieri F, Cannella M, Mariotti C, Maglione V, Castellotti B, Novelletto, Gellera C. (Pozzilli, IS).
- Juvenile form of huntington disease? aspects of molecular diagnosis. Hoffman-Zacharska D, Su_ek A, Zdzienicka E, Zaremba J. (Warsaw, Poland)
- Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 Italian families. Mariotti C, Castellotti B, Testa D, Eoli M, Pareyson D, Marconi R, Tezzon F, Siciliano G, Gellera C, Di Donato S. (Milano)
- Molecular analysis of the androgen receptor gene: genotype-phenotype correlation in Kennedy's syndrome.Torrente I, Wedel S, Mangino M, De Luca A, Wedel R, Guidetti D, Frontali M, Novelli G, Dallapiccola B. (Roma)
- Somatic reductions of the androgen receptor CAG repeat in human colon cancer delineate a novel mutation pathway. Ferro P, Catalano MG, Raineri M, Fortunati N, Pfeffer U. (Torino)
- Exon 1 of the DLX6 gene contains a polymorphic CAG repeat region: To which disease do expansions lead? Pfeffer U, Ferro P, Pavia V, Trombino S, Merlo G, Gurrieri F, Schwart C, Camera G, Levi G. (Genova)
- Phenotype-genotype correlation in myotonic distrophy. Rocchi A, Manca ML, Renna M, Siciliano G. (Pisa)
10.50-11.15
Coffee break
11.15-12.45 Symposium
on Molecular and Cellular Mechanisms of Disease.
Chairpersons: Henry L. Paulson, Lawrence Wrabetz
- Analyses of Huntingtin function and dysfunction in striatal cells. Rigamonti D, Bauer JH, De-Fraja C, Conti L, Sipione S, Sciorati C, Clementi E, Hackam A, Hayden MR, Li Y, Cooper JK, Ross CA, Govoni S, Vincenz C, Cattaneo E. (Milano).
- Induced expression of expanded ataxin-3 in neuronal cells results in upregulation of specific genes involved in the inflammatory response. Evert B, Vogt I, Kindermann C, Wüllner U, Klockgether T. (Bonn, DE)
- Structural investigations on normal and expanded ataxin-3 shed light on the molecular mechanisms of polyglutamine disorders. Shehi E, Pettenella F, Razzini R, Vecchio G, Tortora P, Servadio A. (Milano).
- Histidines interrupting expanded polyglutamines do not affect aggregation in vitro. Calabresi V, Guida S, Servadio A, Frontali M, Jodice C. (Roma).
- Analysis of activated Heat Shock Transcription Factor mutants for suppression of polyglutamine toxicity. Rimoldi M, Zimarino V. (Milano)
- A model for the involvment of Okazaki fragments maturation in the expansion of triplet repeats. Bellizzi D, Sgaramella V, Losso MA (Cosenza).
12.45-14.15 Lunch
Saturday, June 3, 2000 - afternoon session
14.15-15.30 RESEARCH AND THERAPY:
FUTURE PERSPECTIVES
Plenary: Ben A. Oostra (Erasmus University, Rotterdam, The
Netherlands)
"Therapeutic approaches for fragile X syndrome"
15.30-16.45
Round Table on "Future perspectives of research and therapy"
Introduced and chaired by Stefano DiDonato (Carlo Besta Inst., Milan,
Italy)
Gene and cell therapy, innovative technologies.
Closing Remarks
- Pharmacological reactivation of the FMR1 gene of the fragile X syndrome. Neri G, Chiurazzi P, Pomponi MG, Pietrobono R, Torrioli G, Calvani M, Oostra B. (Roma).
- Double blind crossover placebo controlled clinical trial with L-acetylcarnitine in patients with degenerative cerebellar ataxia. Sorbi S, Forleo P, Fani C, Piacentini S. (Firenze).
- Idebenone treatment in Friedreichs ataxia: the design of the clinical trial in Italian patients. Mariotti C, Lombardi F, Solari A, DiDonato S (Milano)
Kenneth H. Fischbeck Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins University. After a medical internship at Case Western Reserve University in Cleveland and a neurology residency at the University of California in San Francisco, he did postdoctoral research on muscular dystrophy at the University of Pennsylvania in Philadelphia. In 1982 he joined the faculty in the Neurology Department at the University of Pennsylvania Medical School. In 1998 he came to the National Institutes of Health in Bethesda as Chief of the newly created Neurogenetics Branch. He received the Cotzias Award from the American Academy of Neurology and was elected to the Institute of Medicine of the National Academy of Sciences. His laboratory is studying the mechanisms of hereditary neurological and neuromuscular disorders, particularly the polyglutamine expansion neurodegenerative diseases. Dr. Fischbeck can be reached at the Neurogenetics Branch, NINDS, NIH, Building 10, Room 3B14, 10 Center Dr., Bethesda, MD 20892-1250, USA. Jean-Louis Mandel Jean-Louis MANDEL, born in 1946 in Strasbourg (France), M.D. and Ph.D. from University of Strasbourg. Professor of Genetics at the Faculty of Medicine of Strasbourg. Head of the Human Molecular Genetic group at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS, INSERM, Université Louis Pasteur). Recipient of the San Remo International Prize in genetic research (1992), the Richard Lounsbery Prize (1994), the Mauro Baschirotto Prize from the European Society of Human Genetics (1998) and the Prize from the Louis-Jeantet Foundation for medicine (Genève, 1999). In 1982, I initiated a project on mapping and identification of disease genes and the work has been pursued since, leading notably to the discovery in 1991, of unstable mutations in the Fragile X mental retardation syndrome, the isolation of the gene responsible for adrenoleukodystrophy, a severe neurodegenerative disease, and most recently to the cloning of the myotubular myopathy gene. Since 1991, I have been actively involved in the analysis of diseases caused by trinucleotide repeat expansions (including Huntington's disease, spinocerebellar ataxia and Friedreich ataxia). My laboratory has identified, alone or as part of collaborative efforts, a total of 9 disease genes. Henry L. Paulson Dr. Henry L. Paulson received M.D. and Ph.D. (1990)
from Yale University, School of Medicine, New Haven, CT, is Assistant Professor
of Neurology at the University of Iowa College of Medicine, Iowa City,
IA. After a medical internship at Robert Wood Johnson Hospital, New Brunswick,
NJ and a Neurology, residency at the University of Pennsylvania Medical
Center, Philadelphia, PA, he became Postdoctoral Fellow at the Movement
Disorders/Neurogenetics,University of Pennsylvania Medical Center, &
Graduate Hospital, Philadelphia, PA.
Ben A. Oostra Ben Oostra received his BSc, MSc and PhD degree
in Biochemistry at the University of Groningen, The Netherlands where he
studied the regulation of ribosomal RNA synthesis in E coli. He did
postdoctoral research on Polyoma virus in the NIMR in London. He returned
back to Holland in 1983 were he became an assistant professor at the University
of Leiden where his research focussed on the study of Adenoviruses. In
1985 he joined the faculty at the Erasmus University at Rotterdam were
he started mapping and cloning of disease genes. In 1988 his research on
Fragile X syndrome started which resulted in the cloning of the FMR1 gene
in 1991. Since then his research concentrated on the functional aspects
of the FMR1 gene: by studying the function of the FMR1 protein; by studying
a FMR1 KO mice, which showed to be a nodel for fragile X syndrome; by studying
the instability of the CGG repeat and the (de)methylation process that
is seen in fragile X patients with an extended repeat. Besides fragile
X syndrome his research interest is the field of neurogenetic disorders.
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TRIPLET REPEAT
DISEASES
from basic to clinical
research
Palazzo delle
Stelline
Milano, Italy
1-3 June 2000
B.R.A.I.N TRAVEL FELLOWSHIPS
B.R.A.I.N is pleased to support participation to the meeting by providing a number of travel fellowships of 1,000,000 ITL to applicants whose abstracts have been selected by an ad hoc scientific committee. The committee will be composed of the four invited speakers (Drs. DiDonato, Fischbeck, Mandel, and Paulson).
. Eligible candidates must be
not older than 40 years and not belong to a permanent staff.
. Researchers working abroad
will be preferred.
. Applicants must fill in the
form provided below:
************************
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application:
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name (init.)
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Please, Fill in and Fax a printed copy to :
BIOPOLO s.c.r.l,
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Contact person: Ms. Cristina
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Invited speakers
Jean-Louis Mandel (France)
Kenneth H. Fischbeck (USA)
Henry L. Paulson (USA)
Stefano Di Donato (Italy)
Ben A. Oostra (The Netherland)
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________________________________________________________________________ ___________
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EFFECTS OF THE ELONGATION OF THE POLYGLUTAMINE TRACT ON ......Rossi C., Bianchi M., Verdi G., Gialli N.
Department of Neurology, University of........, address, phone, fax, e-mail.
TEXT
........................................................................ ................................................................................ ...............
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"TRIPLET REPEAT DISEASES"
from basic to clinical research
Palazzo delle Stelline , Milano
1-3 giugno 2000print, fill in, and fax to :
BIOPOLO s.c.r.l,
The Consortium for Biotechnology Development and Research.
Via Mascheroni 31, 20145 Milano
fax. +39-02-4814.755
Contact person: Ms. Cristina Lupo
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Useful links
OMIM
GeneClinics
Human Gene Nomenclature
Mouse Genome
Rat Genome
BioMedLink
The Merck Manual of Diagnosis and Therapy
Biolinks
Grants net
On-Line Medical Dictionary
Medline
PubCrawler
Milano,Maps etc.
Milano, Maps etc.1