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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Porta Giovanni Stampa
RESPONSABILE DELLA U. O.

Cognome e Nome
Porta Giovanni
Qualifica
Professore Associato
Dipartimento
Dipartimento di Medicina e Chirurgia
Settore Scientifico Disciplinare MED/03 – Genetica Medica
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PERSONALE STRUTTURATO

Cognome e Nome Valli Roberto
Qualifica
Ricercatore confermato
Dipartimento
Dipartimento di Medicina e Chirurgia
Ente di appartenenza Università dell’Insubria
Cognome e Nome Frattini Annalisa
Qualifica
Ricercatore
Dipartimento
Dipartimento di Medicina e Chirurgia
Ente di appartenenza
Università dell’Insubria
Cognome e Nome Montalbano Giuseppe
Qualifica
Tecnico di laboratorio
Dipartimento
Dipartimento di Medicina e Chirurgia
Ente di appartenenza
Università dell’Insubria

PERSONALE NON STRUTTURATO

Cognome e Nome Khan Abdul Waheed
Qualifica Ph.D Student
Dipartimento
Medicina e Chirurgia
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Micheloni Giovanni
Qualifica Ph.D Student
Dipartimento
Medicina e Chirurgia
Ente di appartenenza
Università dell’Insubria
Cognome e Nome
Moretti Vittoria
Qualifica Ph.D Student
Dipartimento
Medicina e Chirurgia
Ente di appartenenza
Università dell’Insubria
Cognome e Nome Pasquali Francesco
Qualifica Professore Emerito
Dipartimento Medicina e Chirurgia
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). - 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
  • Multipainting FISH - For the definition of complex chromosome anomalies, and the detection of all balanced changes
  • Expression microarray

STRUMENTAZIONE

Denominazione
Struttura ove la strumentazione è allocata
Responsabile della strumentazione
Microscope Leica DMRXA with systems of image analysis for karyotyping and FISH
Padiglione Bassani - Dipartimento di Medicina e Chirurgia
Roberto Valli
Microscope Leica DMRA with systems of image analysis for karyotyping, FISH, and multipainting
Padiglione Bassani - Dipartimento di Medicina e Chirurgia
Roberto Valli
Microarray scanner Agilent G2565BA with a-CGH software
Padiglione Bassani - Dipartimento di Medicina e Chirurgia
Roberto Valli
Microscope Leica DM5000B with 8 filters slide and systems of image analysis for karyotyping and FISH
Padiglione Bassani - Dipartimento di Medicina e Chirurgia
Roberto Valli
Agilent Bioanalyzer 2100 Padiglione Bassani - Dipartimento di Medicina e Chirurgia Roberto Valli

PUBBLICAZIONI

1: Valli R, Minelli A, Galbiati M, D'Amico G, Frattini A, Montalbano G, Khan AW, Porta G, Millefanti G, Olivieri C, Cipolli M, Cesaro S, Pasquali F, Danesino C, Cazzaniga G, Maserati E. Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability. Br J Haematol. 2019 Mar;184(6):974-981. doi: 10.1111/bjh.15729. Epub 2018 Dec 26. PubMed PMID: 30585299. 2: Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10. PubMed PMID: 30198570. 3: Rainero A, Angaroni F, D'Avila F, Conti A, Pirrone C, Micheloni G, Tararà L, Millefanti G, Maserati E, Valli R, Spinelli O, Buklijas K, Michelato A, Casalone R, Barlassina C, Barcella M, Sirchia S, Piscitelli E, Caccia M, Porta G. gDNA qPCR is statistically more reliable than mRNA analysis in detecting leukemic cells to monitor CML. Cell Death Dis. 2018 Mar 2;9(3):349. doi: 4 10.1038/s41419-018-0387-2. PubMed PMID: 29500381; PubMed Central PMCID: PMC5834620. 4: Valli R, Vinti L, Frattini A, Fabbri M, Montalbano G, Olivieri C, Minelli A, Locatelli F, Pasquali F, Maserati E. Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene. Mol Cytogenet. 2018 Jan 11;11:2. doi: 10.1186/s13039-017-0352-2. eCollection 2018. PubMed PMID: 29344089; PubMed Central PMCID: PMC5765665. 5: Nacheva E, Mokretar K, Soenmez A, Pittman AM, Grace C, Valli R, Ejaz A, Vattathil S, Maserati E, Houlden H, Taanman JW, Schapira AH, Proukakis C. DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. PLoS One. 2017 Jul 6;12(7):e0180467. doi: 10.1371/journal.pone.0180467. eCollection 2017. PubMed PMID: 28683077; PubMed Central PMCID: PMC5500342. 6: Valli R, De Paoli E, Nacci L, Frattini A, Pasquali F, Maserati E. Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26454. Epub 2017 Jan 28. PubMed PMID: 28130858. 7: Nacci L, Valli R, Maria Pinto R, Zecca M, Cipolli M, Morini J, Cesaro S, Boveri E, Rosti V, Corti P, Ambroni M, Pasquali F, Danesino C, Maserati E, Minelli A. Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. Genes Chromosomes Cancer. 2017 Jan;56(1):51-58. doi: 10.1002/gcc.22401. Epub 2016 Sep 21. PubMed PMID: 27553422. 8: Frattini A, Fabbri M, Valli R, De Paoli E, Montalbano G, Gribaldo L, Pasquali F, Maserati E. High variability of genomic instability and gene expression profiling in different HeLa clones. Sci Rep. 2015 Oct 20;5:15377. doi: 10.1038/srep15377. PubMed PMID: 26483214; PubMed Central PMCID: PMC4613361. 9: Valli R, De Bernardi F, Frattini A, Volpi L, Bignami M, Facchetti F, Pasquali F, Castelnuovo P, Maserati E. Comparative genomic hybridization on microarray (a-CGH) in olfactory neuroblastoma: Analysis of ten cases and review of the literature. Genes Chromosomes Cancer. 2015 Dec;54(12):771-5. doi: 10.1002/gcc.22288. Epub 2015 Sep 10. Review. PubMed PMID: 26355525. 10: Pressato B, Valli R, Marletta C, Mare L, Montalbano G, Curto FL, Pasquali F, Maserati E. Cytogenetic monitoring in Shwachman-Diamond syndrome: a note on clonal progression and a practical warning. J Pediatr Hematol Oncol. 2015 May;37(4):307-10. doi: 10.1097/MPH.0000000000000268. PubMed PMID: 25887640.


DOTTORATI DI RICERCA

Componente U.O. Dottorato di Ricerca Coordinatore Sede
Valli Roberto
Scienze della vita e biotecnologie
Silvia Sacchi
Dipartimento di Biotecnologie e Scienze della Vita (DBSV)
Porta Giovanni
Medicina Sperimentale e Traslazionale
Negrini Daniela
Dipartimento di Medicina e Chirurgia (DMC)

CONGRESSI C.I.B.

Congressi Partecipazione
CNB4

CNB5

CNB6

CNB7

CNB8

CNB9
CNB10