Silvia Bione
Silvia Bione
e-mail:
affiliation: Istituto di Genetica Molecolare-CNR, Pavia
research area(s): Genetics And Genomics, Computational Biology
Course: Genetics, Molecular and Cellular Biology
University/Istitution: Università di Pavia
Education
1993: Graduated with honors in Biological Sciences at University of Pavia
1997: PhD degree in Genetic Sciences at University of Pavia
Professional experience:
1993-2001: Research Fellowship activities at Molecular Genetics Institute-CNR, Pavia
1998: Visiting Scientist at Stanford University, CA USA

2001-today: Staff scientist at Molecular Genetics Institute-CNR, Pavia

The comprehension of molecular mechanisms involved in the pathogenesis of human diseases with a complex, multifactorial genetic inheritance, requires today bioinformatic and biostatistic approaches able to integrate and interpret the huge amount of informations derived from genome-wide studies. Recent technological improvements, that have made possible the analysis of human diversity at different molecular levels, resulted in the development of new strategies in human genetic studies aimed at the identification of genetic determinants, at the comprehension of their interactions and of molecular mechanisms involved in susceptibility to complex disorders. The study of these genetic determinants requires today the use of suitable bioinformatic and biostatistic approaches and the development of new methodologies for the comprehension of complex biological systems regulating normal and pathological human physiology.
To this aim, the goal of ongoing studies is the the application of new biostatistic and bioinformatic tools for
-the identification of genetic determinants involved as risk-factors in cardiovascular disorders, in particular in stroke
-the identification of anomalies in molecular pathways, as gene-expression or alternative splicing, acting as susceptibility factors for complex diseases.
Bodega B, Bione S, Dalprà L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod. 2006 Apr;21(4):952-7.

Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod. 2006 Jun;21(6):1477-83.

Bione S, Benedetti S, Goegan M, Menditto I, Marozzi A, Ferrari M, Toniolo D. Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet A. 2006 Jun 15;140(12):1349-51.

Rizzolio F, Bione S, Villa A, Berti E, Cassetti A, Bulfone A, Tribioli C, Toniolo D. Spatial and temporal expression of POF1B, a gene expressed in epithelia. Gene Expr Patterns. 2007 Feb;7(4):529-34.

Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, Pramparo T, Zuffardi O, Toniolo D. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet. 2007 May;121(3-4):441-50.

Gallardo TD, John GB, Bradshaw K, Welt C, Reijo-Pera R, Vogt PH, Touraine P, Bione S, Toniolo D, Nelson LM, Zinn AR, Castrillon DH. Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. Hum Reprod. 2008 Jan;23(1):216-21.

Cattaneo F, Molatore S, Mihalatos M, Apessos A, Venesio T, Bione S, Grignani P, Nasioulas G, Ranzani GN. Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. Genet Med. 2007 Dec;9(12):836-41.

Rizzolio F, Bione S, Sala C, Tribioli C, Ciccone R, Zuffardi O, di Iorgi N, Maghnie M, Toniolo D. Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? PLoS One. 2008 Jan 23;3(1):e1460.

Sala C, Ciullo M, Lanzara C, Nutile T, Bione S, Massacane R, d'Adamo P, Gasparini P, Toniolo D, Camaschella C. Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica. 2008 Sep;93(9):1372-5.

Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet. 2008 Dec 1;17(23):3776-83

Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, Grammatico P, Nelson LM, Beck-Peccoz P, Persani L. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat. 2009 May;30(5):804-10.

Corre T, Schuettler J, Bione S, Marozzi A, Persani L, Rossetti R, Torricelli F, Giotti I, Vogt P, Toniolo D; Italian Network for the study of Ovarian Dysfunctions. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. Hum Reprod. 2009 Aug;24(8):2023-8.

Traglia M, Sala C, Masciullo C, Cverhova V, Lori F, Pistis G, Bione S, Gasparini P, Ulivi S, Ciullo M, Nutile T, Bosi E, Sirtori M, Mignogna G, Rubinacci A, Buetti I, Camaschella C, Petretto E, Toniolo D. Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One. 2009 Oct 22;4(10):e7554.

Sorice R, Bione S, Sansanelli S, Ulivi S, Athanasakis E, Lanzara C, Nutile T, Sala C, Camaschella C, D'Adamo P, Gasparini P, Ciullo M, Toniolo D. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet. 2011 May;19(5):593-6.

Ostano P, Bione S, Belgiovine C, Chiodi I, Ghimenti C, Scovassi AI, Chiorino G, Mondello C. Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation. OMICS. 2012 Jan-Feb;16(1-2):24-36.

Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, Rasheed A, Zeginigg M, Attia J, Baker R, Barlera S, Biffi A, Bookman E, Brott TG, Brown RD Jr, Chen F, Chen WM, Ciusani E, Cole JW, Cortellini L, Danesh J, Doheny K, Ferrucci L, Grazia Franzosi M, Frossard P, Furie KL, Golledge J, Hankey GJ, Hernandez D, Holliday EG, Hsu FC, Jannes J, Kamal A, Khan MS, Kittner SJ, Koblar SA, Lewis M, Lincz L, Lisa A, Matarin M, Moscato P, Mychaleckyj JC, Parati EA, Parolo S, Pugh E, Rost NS, Schallert M, Schmidt H, Scott RJ, Sturm JW, Yadav S, Zaidi M, Boncoraglio GB, Levi CR, Meschia JF, Rosand J, Sale M, Saleheen D, Schmidt R, Sharma P, Worrall B, Mitchell BD; GARNET Collaborative Research Group; GENEVA Consortium; International Stroke Genetics Consortium. Are myocardial infarction-associated single-nucleotide polymorphisms associated with ischemic stroke? Stroke. 2012 Apr;43(4):980-6.
Project Title:
Identification of anomalies in molecular pathways acting as susceptibility factors for complex diseases throught the analysis of gene expression and alternative splicing data.