Direzione e uffici C.I.B.

Direzione CIB:
Prof. Claudio Schneider
Email: claudio.schneider@Lncib.it

Segreteria CIB:
Prof. Roberto Gambari
Email: roberto.gambari@unife.it

SEGRETERIA ORGANIZZATIVA:
Elisabetta Lambertini
Tel: 0532/974451
Fax: 0532/974484
E-mail: lmblbt@unife.it

AMMINISTRAZIONE:
Vanessa Florit
Area di Ricerca
Padriciano, 99 - 34012 Trieste
Tel: 040/398979
Fax: 040/398990
E-mail: cib@lncib.it

Posta certificata C.I.B.:
cib@poste-certificate.it

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Pasquali Francesco Stampa
RESPONSABILE DELLA U. O.

Cognome e Nome
Pasquali Francesco
Qualifica
Professore Ordinario
Facoltà Medicina e Chirurgia
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Settore Scientifico Disciplinare MED/03 – Genetica Medica
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PERSONALE STRUTTURATO

Cognome e Nome Lo Curto Francesco
Qualifica
PO
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Cognome e Nome Maserati Emanuela
Qualifica
PA
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome Montalbano Giuseppe
Qualifica
Tecnico
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Pasquali Francesco
Qualifica
PO
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Porta Giovanni
Qualifica
PA
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Valli Roberto
Qualifica
RU
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Qualifica
Dipartimento
Ente di appartenenza

PERSONALE NON STRUTTURATO

Cognome e Nome Marletta Cristina
Qualifica Borsista
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Pagani Ilaria
Qualifica Borsista
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Pressato Barbara
Qualifica Assegnista
Dipartimento
Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza
Università dell’Insubria
Cognome e Nome Marenghi Laura
Qualifica Dottorando
Dipartimento Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza Università dell'Insubria
Cognome e Nome Mare Lidia
Qualifica Dottorando
Dipartimento Scienze Biomediche Sperimentali e Cliniche
Ente di appartenenza Università dell'Insubria

LINEE DI RICERCA

Most research work concerns karyotype variability and gene mutations/polymorphisms in neoplasm pathogenesis, with particular interest in myelo- and lympho-proliferative diseases, and in conditions predisposing to these. In particular, all cytogenetic, molecular genetic, and molecular cytogenetic methods, as well as microarray-based comparative genomic hybridization (a-CGH) are applied to the following research topics: - Constitutional and acquired chromosome variability in Shwachman Diamond syndrome (SDS): SDS may be considered as the prototype of Mendelian diseases predisposing to myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML) through the acquisition of specific chromosome changes in the bone marrow. - Mutator genes in the pathogenesis of myelodysplastic and myeloproliferative diseases: in particular in inherited bone marrow failure syndromes (IBMFS) (Fanconi Anaemia, severe congenital neutropenia, included Kostmann syndrome, Congenital Amegakaryocytic Thrombocytopenia (CAMT), “Familial Platelet Disorder with propension to AML” (FPD/AML)), in familial MDS/AML, and in non-hereditary bone marrow failure syndromes. - Molecular cytogenetics in constitutional chromosome anomalies: investigations by means of Fluorescent in situ Hybridization (FISH), and a-CGH. - Chromosome variability in myelo- and lympho-proliferative disorders: investigations, in particular, concerning trisomy 8, monosomy 7, chromosome Ph in Chronic Myelocytic Leukaemia (CML). - Minimal residual disease (MRD) in CML: Development of new diagnostic tools for the molecular monitoring of MRD, with the definition of molecular breakpoints, and the detection of Ph-positive stem cells. - Homeotic genes in breast cancer: Evaluation of expression, and link to pathogenetic mechanisms. - Molecular characterization of tooth pulp totipotent cells.

TECNOLOGIE IN POSSESSO DELL'U. O.

  • Culture techniques - Basic techniques for cytogenetic and molecular work
  • Standard cytogenetic techniques - All informative techniques
  • Molecular cytogenetic techniques (FISH) - With all informative probes and libraries
  • Multipainting FISH - For the definition of complex chromosome anomalies, and the detection of all balanced changes
  • Comparative genomic hybridization on array (a-CGH) - For the fine detection of all possible chromosome unbalanced anomalies
  • DNA techniques - Basic techniques for molecular and cytogenetic work
  • Real-time quantitative PCR - For the quantification of gene expression, and, when applied on genomic DNA, of unbalances

STRUMENTAZIONE

Denominazione
Struttura ove la strumentazione è allocata
Responsabile della strumentazione
Microscope Leica DMRXA with systems of image analysis for karyotyping and FISH
Dip. di Scienze Biomediche Sperimentali e Cliniche
F. Pasquali
Microscope Leica DMRA with systems of image analysis for karyotyping, FISH, and multipainting
Dip. di Scienze Biomediche Sperimentali e Cliniche
F. Pasquali
Real-time PCR thermocycler ABI Prism 7000 (Applied Biosystems)
Dip. di Scienze Biomediche Sperimentali e Cliniche
F. Pasquali
Microarray scanner Agilent G2565BA with a-CGH software
Dip. di Scienze Biomediche Sperimentali e Cliniche
F. Pasquali
Microscope Leica DM5000B with 8 filters slide and systems of image analysis for karyotyping and FISH
Dip. di Scienze Biomediche Sperimentali e Cliniche
F. Pasquali

PUBBLICAZIONI

Pressato B, Marletta C, Montalbano G, Valli R, Maserati E: Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Sindrome. Br J Haematol. 2010; 150:632-633.

Mattarucchi E, Spinelli O, Rambaldi A, Pasquali F, Lo Curto F, Campiotti L, Porta G: Molecular monitoring of residual disease in chronic myeloid leukemia by genomic DNA compared with conventional mRNA analysis. J Mol Diagn. 2009; 11:482-487.

Maserati E, Pressato B, Valli R, Minelli A, Sainati L, Patitucci F, Marletta C, Mastronuzzi A, Poli F, Lo Curto F, Locatelli F, Danesino C, Pasquali F: The route to development of myelodysplastic sindrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. Br J Haematol. 2009; 145:190-197.

Minelli A, Maserati E, Nicolis E, Zecca M, Sainati L, Longoni D, Lo Curto F, Menna G, Poli F, De Paoli E, Cipolli M, Locatelli F, Pasquali F, Danesino C: The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman sindrome. Leukemia. 2009;23:708-711.

Mattarucchi E, Guerini V, Rambaldi A, Campiotti L, Venco A, Pasquali F, Lo Curto F, Porta G: Microhomologies and interspersed repeat elements at genomic breakpoints in chronic myeloid leukemia. Genes Chromosomes Cancer. 2008; 47:625-632.

Maserati E, Panarello C, Morerio C, Valli R, Pressato B, Patitucci F, Tassano E, Di Cesare-Merlone A, Cugno C, Balduini CL, Lo Curto F, Dufour C, Locatelli F, Pasquali F: Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). Haematologica. 2008; 93:1271-1273.

Maserati E, Pressato B, Valli R, Patitucci F, Lo Curto F, Pasquali F, Minelli A, Danesino C, Marchetti M, Barosi G: Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. Cancer Genet Cytogenet. 2007; 179:79-81.

Porta G, Maserati E, Mattarucchi E, Minelli A, Pressato B, Valli R, Zecca M, Bernardo ME, Lo Curto F, Locatelli F, Danesino C, Pasquali F: Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. Leukemia. 2007; 21:1833-1835.

Porta G, Mattarucchi E, Maserati E, Pressato B, Valli R, Morerio C, Zecca M, Panarello C, Locatelli F, Lo Curto F, Pasquali F: Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with Shwachman sindrome by real-time quantitative PCR. J Pediatr Hematol Oncol. 2007; 29:163-165.

Mattarucchi E, Marsoni M, Passi A, Lo Curto F, Pasquali F, Porta G: Establishment and study of different real-time polymerase chain reaction assays for the quantification of cells with deletions of chromosome 7. J Mol Diagn. 2006; 8:218-224.

Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M, Menna G, Sainati L, Poli F, Panarello C, Zecca M, Lo Curto F, Mecucci C, Danesino C, Pasquali F: Shwachman sindrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer. 2006; 45:375-382.

Minelli A, Maserati E, Rossi G, Bernardo ME, De Stefano P, Cecchini MP, Valli R, Albano V, Pierani P, Leszl A, Sainati L, Lo Curto F, Danesino C, Locatelli F, Pasquali F: Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. Genes Chromosom Cancer. 2004; 40:165-171.


DOTTORATI DI RICERCA

Componente U.O. Dottorato di Ricerca Coordinatore Sede
Pasquali F
Biotecnologie
De Luca G
Dip. Scienze Biomediche Sperimentali e Cliniche
Lo Curto F
Medicina Sperimentale e Oncologia
Accolla R
Dip. Scienze Cliniche e Biologiche
Maserati E
Biotecnologie
De Luca G
Dip. Scienze Biomediche Sperimentali e Cliniche
Porta G
Biotecnologie
De Luca G
Dip. Scienze Biomediche Sperimentali e Cliniche

CONGRESSI C.I.B.

Congressi Partecipazione
CNB4

CNB5

CNB6

CNB7

CNB8

CNB9
CNB10