Genuardi Maurizio Stampa
RESPONSABILE DELLA U. O.

Cognome e Nome Genuardi Maurizio
Qualifica FULL PROFESSOR
Facoltà MEDICINA E CHIRURGIA
Dipartimento FISIOPATOLOGIA CLINICA, UNIVERSITA’ DEGLI STUDI DI FIRENZE
Settore Scientifico Disciplinare MED03
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PERSONALE STRUTTURATO

Cognome e Nome GENSINI FRANCESCA
Qualifica
ASSISTANT PROFESSOR (RICERCATORE)
Dipartimento FISIOPATOLOGIA CLINICA
Ente di appartenenza
UNIVERSITA’ DEGLI STUDI DI FIRENZE
Cognome e Nome PORFIRIO BERARDINO
Qualifica ASSOCIATE PROFESSOR
Dipartimento FISIOPATOLOGIA CLINICA
Ente di appartenenza
UNIVERSITA’ DEGLI STUDI DI FIRENZE
Cognome e Nome
SESTINI ROBERTA
Qualifica ASSISTANT PROFESSOR (RICERCATORE)
Dipartimento FISIOPATOLOGIA CLINICA
Ente di appartenenza
UNIVERSITA’ DEGLI STUDI DI FIRENZE

PERSONALE NON STRUTTURATO

Cognome e Nome GRAZIANO CLAUDIO
Qualifica POST-DOCTORAL FELLOW (RICERCATORE A TEMPO DETERMINATO)
Dipartimento
FISIOPATOLOGIA CLINICA
Ente di appartenenza
UNIVERSITA’ DEGLI STUDI DI FIRENZE
Cognome e Nome TRICARICO ROSSELLA
Qualifica POST-DOCTORAL FELLOW (ASSEGNISTA DI RICERCA)
Dipartimento
FISIOPATOLOGIA CLINICA
Ente di appartenenza
UNIVERSITA’ DEGLI STUDI DI FIRENZE
Cognome e Nome
VIGNOLI MARINA
Qualifica Ph. D. STUDENT
Dipartimento
FISIOPATOLOGIA CLINICA
Ente di appartenenza
UNIVERSITA’ DEGLI STUDI DI FIRENZE
Cognome e Nome
Qualifica
Dipartimento
Ente di appartenenza
Cognome e Nome
Qualifica
Dipartimento
Ente di appartenenza
Cognome e Nome
Qualifica
Dipartimento
Ente di appartenenza

LINEE DI RICERCA

The group has been involved since several years in molecular genetic studies of hereditary susceptibility to human cancer as well as of rare genetic diseases.

Line 1. In the last 2 years our activity has been focused on an autosomal recessive form of intestinal polyposis caused by mutations in the base excision repair gene MYH (MYH-Associated Polyposis or MAP), as well as on forms of multiple polyposis of unknown origin. A large number of biological samples, obtained locally and through collaborations with other national centers, are available. The main aims are: A) To establish MAP frequency in Italian patients with colonic polyposis; B) To establish genotype-phenotype correlations; C) To characterize the functional effects of mutations with uncertain pathogenic significance by a) in vitro and in silico analysis on splicing effects, and b) in vitro analysis of glycosylase activity of the proteins encoded by such gene variants; D) To determine the pattern of somatic mutations in target genes (APC, KRAS and others) in tumor samples from patients with biallelic MYH mutations; E) To determine the molecular alterations that occur in the carcinogenetic process in patients with hyperplastic polyposis, a poorly characterized condition associated with the development of colorectal cancer.

Line 2. Alkaptonuria is a rare metabolic disease due to homozygous mutations in the HGO gene. There are three main reasons why it should be studied extensively: 1) there is a need for a complete ascertainment in order to caution patients against the severe complications associated with the natural history of the disease; 2) the disease is a very good model of arthropathy of known origin: this joint disease often resembles osteoarthritis but sometimes has clear features of an inflammatory arthritis; understanding the underlying mechanisms should be of value on its own but would also shed light on pathogenetic pathways acting in common rheumatologic diseases; 3) according to the Hardy-Weinberg law, carriers are at least 1 in 500; in view of possible dominant negative effects of HGO mutations, it is tempting to envisage a role for heterozygous mutations of the HGO gene as one of the liability genetic determinants in complex traits of rheumatologic interest. Our aims are: 1) to identify those mutations at risk of severe arthritis and evaluate their effects in heterozygotes; 2) to identify markers of disease activity which can help in monitoring the effect of specific treatment; 3) to clarify some pathogenetic aspect of arthritis (inflammatory vs degenerative).

TECNOLOGIE IN POSSESSO DELL'U. O.

  • Southern blotting
  • STR typing
  • RT-PCR
  • dHPLC
  • Sequencing
  • Cell cultures
  • Cytogenetics
  • FISH

STRUMENTAZIONE

Denominazione
Struttura ove la strumentazione è allocata
Responsabile della strumentazione
Applied Biosystems “ABI Prism 310 Genetic Analyzer
Dipartimento Fisiopatologia Clinica, Sezione Genetica Medica
M. Genuardi
Applied Biosystems “ABI Prism 310 Genetic Analyzer
Dipartimento Fisiopatologia Clinica, Sezione Genetica Umana
B. Porfirio
Applied Biosystems “GeneAmp Sequence Detection Sys
Dipartimento Fisiopatologia Clinica, Sezione Genetica Umana
B. Porfirio
Nikon Fluorescence microscope
Dipartimento Fisiopatologia Clinica, Sezione Genetica Medica
M. Genuardi
Wave Transgenomics dHPLC Apparatus
Azienda Ospedaliero-Universitaria Meyer
M. Genuardi

PUBBLICAZIONI

1. Rovella V., Carrara S., Cogliandolo S., Crucitti A., Coco C., Magistrelli P., Lucci-Cordisco E., Anti M., Neri G., Genuardi M. "Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population". Ann. Oncol., 12:813-818 (2001).
2. Genuardi M., Klutz M., Devriendt K., Caruso D., Stirpe M., Lohmann D.R. "Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma". Eur. J. Hum. Genet. 9:690-4 (2001).
3. Viel A., Petronzelli F., Della Puppa L., Lucci Cordisco E., Fornasarig M., Pucciarelli S., Rovella V., Quaia M., Ponz de Leon M., Boiocchi M., Genuardi M. “Different molecular mechanisms underlie genomic deletions in the MLH1 gene”. Hum. Mutat. 20:368-74 (2002).
4. Caluseriu O., Di Gregorio C., Lucci-Cordisco E., Santarosa M., Trojan J., Brieger A., Colibazzi T., Benatti P., Pedroni M., Bellacosa A., Neri G., Ponz de Leon M., Viel A., Genuardi M. “A founder MLH1 mutation in hereditary non polyposis colorectal cancer families from the districts of Modena and Reggio-Emilia in Northern Italy associated with protein elongation and instability”. J. Med. Genet. 41:E34 (2004).
5. Baglioni S., Genuardi M. “Simple and complex genetics of colorectal cancer”. Am. J. Med. Genet. 129C:35-43 (2004)
6. Lucci-Cordisco E., Zollino M, Baglioni S., Mancuso I., Lecce R., Guerrieri F., Crucitti A., Papi L., Neri G., Genuardi M. “A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non polyposis colorectal cancer”. Clin. Genet. 67:178-182 (2005)
7. Baglioni S., Melean G., Gensini F., Santucci M., Scatizzi M., Papi L., Genuardi M. “A kindred with MYH-associated polyposis and pilomatricomas”. Am. J. Med. Genet. A 134:212-214 (2005)
8. Porfirio B, Chiarelli I, Graziano C, Mannoni A, Morrone A, Zammarchi E, Beltrán-Valero de Bernabé D, Rodríguez de Córdoba S. Alkaptonuria in Italy: Polymorphic Haplotype Background, Mutational Profile and Description of 4 Novel Mutations in the Homogentisate 1,2-dioxygenase Gene. J Med Genet 37: 309-312, 2000.
9. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airò P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B. Alkaptonuria, ochronosis, and ochronotic arthropathy. Sem Arth Rheu 33: 239-248, 2004.
10. Graziano C, Bertini E, Minetti C, Porfirio B. a-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy. Int J Mol Med 13: 805-809, 2004.

DOTTORATI DI RICERCA

Componente U.O. Dottorato di Ricerca Coordinatore Sede
Genuardi Maurizio
Oncologia e Genetica
Prof. A. Renieri, Dept. Molecular Biology
Siena

CONGRESSI C.I.B.

Congressi Partecipazione
CNB4

CNB5

CNB6

CNB7

CNB8

CNB9
CNB10