Cesare Danesino
Cesare Danesino
affiliation: Università di Pavia
research area(s): Genetics And Genomics, Molecular Biology
Course: Genetics, Molecular and Cellular Biology
University/Istitution: Università di Pavia
Scientific Activities
His scientific work has been devoted to the study of lysosomal storage diseases, prenatal diagnosis, gene dosage effect, gene mapping; recently he studied the parental origin of the chromosomes involved in chromosomal aneuploidies in laeukemias , in relation to its possible effect on the patogenesis of these disorders.
He is responsible of a project on Rendu-Weber-Osler disease (search for mutations in ENG and ALK1 genes, genotype phenotype correlations, search for genetic polymorphism which my interfere with mutationin ENG or ALK1), and, in collaboration with the Research Hospital "IRCCS S. Matteo" in Pavia in a project to study genetic Histhiocytoses. This project (P. I. DR. M. Aricò) was funded by Telethon (project n E755). Again in collaboration with "IRCCS S. Matteo" he is involved in a project about JMML. In collaboration with IRCCS C. Mondino he is developing a project about Glycogen storage disease Type II.
His clinical activity is about the diagnosis of genetically determined disorders, with a specific interest in Genetic Counselling.
After a period of training at the Mount Sinai Hospital in New York, and further training at Istituto di Biologia Generale e Genetica Medica (1974-1976, University of Pavia, under the guidance of Prof. M. Fraccaro) he has been in charge of the Genetic Counseling work at the Genetica Medica, University of Pavia; 1976-1980 he collaborated to develop the Genetic Counseling Clinic at the "Provincia di Trento" and immediately thereafter at the "Provincia di Bolzano".
Since 1976 up to now he is in charge of Genetic Couseling work at the "Dipartimento di Patologia Umana ed Ereditaria" (University of Pavia) under agreements with the Public Health Service (ASL in Pavia) and the Research Hospital "IRCCS S. Matteo".

He has obtained grants from the Italian Scientific Council (MURST, COFIN 1998), Public Health Services of Regione Lombardia, Telethon (Cell Bank), and private associations (AISS, Fondazione Onilde Carini, AIG), from "Fondazione CARIPLO" , "Banca Regionale Europea", Histhiocytosis Association of America.
In 1998 and 1999 he has been a coordinator of one of the two modules of the School for Molecular Medicine and Genetic Epidemiology active at the University of Pavia.
Since 2005 he is the Coordinator of the PhD courses in Pathology and Medical Genetics
He acts as an occasional referee for several international Journals.
He published over 140 papers on peer reviewed journals; total citation number (ISI, since 1990) 2083 with "H index" 26; total citation number 2336 (Scopus since 1996) "H index 27; Google Scholar, "H index" 32.
1 - Glycogen storage disease type II
Analysis of genetic factors able to modify the clinical outcome of the disease and the efficacy of enzyme replacement therapy (ERT)

2 - Shwachman Syndrome
Evaluation of the presence of the somatic cytogenetic abnormalities observed in bone marrow on mature peripheral blood cells in relation to the risk of developing MDS or AML

3 - Hereditary Hemorrhagic Teleangiectasia: genotype phenotype correlation, study of TGFbeta polymorphisms, structural and physiological effect of mutations on protein structure.

4 - Juvenile Mielomonocytic Leukemia (JMML)
Study of timing of origin of the somatic mutations related to the delopment of the disease during the maturation of the hematological stem cell.
Gana S, Morbini P, Giourgos G, Matti E, Chu F, Danesino C, Pagella F. Early
onset of a nasal perivascular epithelioid cell neoplasm not related to tuberous
sclerosis complex. Acta Otorhinolaryngol Ital. 2012 Apr;32(3):198-201. PubMed
PMID: 22767987; PubMed Central PMCID: PMC3385057.

Ravaglia S, De Filippi P, Pichiecchio A, Ponzio M, Saeidi Garaghani K, Poloni
GU, Bini P, Danesino C. Can genes influencing muscle function affect the
therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II
Glycogenosis? Mol Genet Metab. 2012 May 30. [Epub ahead of print] PubMed PMID:

Necchi V, Minelli A, Sommi P, Vitali A, Caruso R, Longoni D, Frau MR, Nasi C,
De Gregorio F, Zecca M, Ricci V, Danesino C, Solcia E. Ubiquitin-proteasome-rich
cytoplasmic structures in neutrophils of patients with Shwachman-Diamond
syndrome. Haematologica. 2012 Mar 14. [Epub ahead of print] PubMed PMID:

Rossi E, Villanacci V, Danesino C, Donato F, Nascimbeni R, Bassotti G.
Epidermal growth factor receptor overexpression/amplification in adenocarcinomas
arising in the gastrointestinal tract. Rev Esp Enferm Dig. 2011
Dec;103(12):632-9. English, Spanish. PubMed PMID: 22217347.

De Filippi P, Zecca M, Novara F, Lisini D, Maserati E, Pasquali F, Rosti V,
Carlo-Stella C, Zavras N, Cagioni C, Zuffardi O, Pagliara D, Danesino C,
Locatelli F. The strange case of the lost NRAS mutation in a child with juvenile
myelomonocytic leukemia. Pediatr Blood Cancer. 2011 Dec 19. doi:
10.1002/pbc.23401. [Epub ahead of print] PubMed PMID: 22183880.

Scotti C, Olivieri C, Boeri L, Canzonieri C, Ornati F, Buscarini E, Pagella F,
Danesino C. Bioinformatic analysis of pathogenic missense mutations of activin
receptor like kinase 1 ectodomain. PLoS One. 2011;6(10):e26431. Epub 2011 Oct 18.
PubMed PMID: 22028876; PubMed Central PMCID: PMC3196573.

Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi
MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M,
Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M. Diagnosis of
vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1
mutations. J Dermatol Sci. 2011 Dec;64(3):237-40. Epub 2011 Sep 24. Erratum in: J
Dermatol Sci. 2012 Jan;65(1):77. PubMed PMID: 22019127.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I,
Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C,
Raynaud M. Twenty-five novel mutations including duplications in the ATP7A gene.
Clin Genet. 2010 May 7. doi: 10.1111/j.1399-0004.2010.01461.x. [Epub ahead of
print] PubMed PMID: 21208200.
No projects are available to students for the current accademic year.