Download Isabella Cascino Birthdate: January 12, 1952 Birthplace: Rome, Italy

Isabella Cascino
Birthdate:
Birthplace:
Citizenship:
January 12, 1952
Rome, Italy
Italian
1975-1977 Student at the Medical Genetics Laboratory, Medical School, University of Rome 'La
Sapienza', directed by Prof. E. Gandini.
23/11/1977 Degree in Biological Sciences at the University of Rome 'La Sapienza' with votes
110/110 and honours.
1977-1982 Fellow at the Medical Genetics Laboratory, Medical School, University of Rome 'La
Sapienza'.
1979-1980 Research fellowship at the Basel Institute for Immunology, laboratory of Prof. R.
Ceppellini working on the production and screening of anti-HLA monoclonal antibodies.
1982-1988 Fellow at the Medical Genetics Laboratory, University of Rome 'La Sapienza'. Research
contract of the National Research Council (CNR), working on the production and screening of antiHLA monoclonal antibodies and HLA-celiac disease association studies.
1985-1987 Postdoctoral fellow at the Wistar Institute of Philadelphia and at the Pittsburgh Cancer
Institute in the laboratory of Prof. M. Trucco. Training in molecular biology, molecular typing of
HLA-DQA and DQB genes, cloning and sequencing of HLA-DQw1 alleles.
1988-1990 Research contract at the Institute of Cell Biology, CNR, Immunobiology laboratory
directed by Dr. R. Tosi, working on HLA-DRB1 and DQA molecular typing.
1990-2014 Staff Scientist at the Institute of Cell Biology, CNR. Working on several aspects of
autoimmune diseases: characterization of HSP70-1 promoter region, definition of HLA extended
haplotypes, characterization of soluble and mutant forms of the Fas gene, association studies of
candidate genes (HSP70-1, Fas, CTLA-4 and IL12) with several autoimmune diseases.
1999 Specialization in Medical Genetics at the University of Rome 'La Sapienza' with votes 70/70
and honours.
2002 Principal Investigator of the research project: Multiple Sclerosis: A genome study of postzygotic and epigenetic differential changes in Monozygotic twins discordant for MS. N.0AB/F4
Istituto Superiore di Sanità
2004 Principal Investigator of the research project: “IDDM12 locus analysis in T1DM Identification
and characterization of functional polymorphisms” Telethon n° GJT04005
2004 Letter of commendation from the President of CNR Professor Fabio Pistella
2005 Productivity bonus "Incentives to staff-2005"
Employment and Experience:
I have been involved in theoretical and technical aspects of the genetics of polygenic autoimmune
diseases since the era of HLA and disease association serological studies up to the recent strategies
and technological developments for the low-effect gene discovery. I have performed population
genetics and association studies (either case-control or intrafamilial) of HLA and non-HLA genes
(Fas, HSP70-1, IL12, CTLA-4) with several immune-mediated diseases. These studies initially
implied screening of anti-HLA sera, production of monoclonal antibodies, cloning of alleles (HLADQw1) and active participation to the network of the Histocompatibility Workshops.
Later on we have been involved in the setting-up and in the upgrading of several molecular typing
procedures (Southern-RFLP, dotblot, heteroduplex, PCR-RFLP, sequencing and minisequencing,
radioactive and fluorescent semi-automated microsatellite analysis).
In collaboration with Dr. Giovina Ruberti we have identified and characterized three human
mRNA Fas variants, screened a human genomic library and analysed the Fas genomic intron-exon
organization.
In the last years my major research activity focused on the role of the IDDM12 region , Foxp3 ,
Vipr and HLA-E genes on T1DM and other autoimmune and inflammatory diseases. Collaboration
with clinical endocrinologists and human geneticists with different and complementary expertises
(R Sorrentino, R. Buzzetti, P. Momigliano-Richiardi, M. Giordano, R. Tosi and L. Nisticò,)
strongly contributed to these studies.
Last year, 2013, with Dr. Giancarlo Deidda, Dr. Patrizia Calandra and Dr Fabiola Moretti, we
started to investigate the role of methylation in the facio-scapular-humeral dystrophy.
Publications of the last 10 years
1) Paladini F, Adinolfi V, Cocco E, Ciociola E, Tamburrano G, Cascino I, Lucantoni F, Morano S,
Sorrentino R. Gender-dependent association of type 2 diabetes with the vasoactive intestinal peptide
receptor 1. Gene. 2012 Feb 10;493(2):278-81. doi: 10.1016/j.gene.2011.11.055. Epub 2011 Dec 7.
2) Paladini F, Belfiore F, Cocco E, Carcassi C, Cauli A, Vacca A, Fiorillo MT, Mathieu A, Cascino
I, Sorrentino R.HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.
Arthritis Res Ther. 2009;11(6):R171. doi: 10.1186/ar2860. Epub 2009 Nov 13.
3) Paladini F, Cocco E, Cascino I, Belfiore F, Badiali D, Piretta L, Alghisi F, Anzini F, Fiorillo MT,
Corazziari E, Sorrentino R. Age-dependent association of idiopathic achalasia with vasoactive
intestinal peptide receptor 1 gene. Neurogastroenterol Motil. 2009 Jun;21(6):597-602. doi:
10.1111/j.1365-2982.2009.01284.x. Epub 2009 Feb 27.
4) Paladini F, Cocco E, Cauli A, Cascino I, Vacca A, Belfiore F, Fiorillo MT, Mathieu A,
Sorrentino R. A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene
correlates with the presence of HLA-B*2705 in Sardinia. Genes Immun. 2008 Dec;9(8):659-67.
doi: 10.1038/gene.2008.60. Epub 2008 Jul 31.
5) Cascino I, Paladini F, Belfiore F, Cauli A, Angelini C, Fiorillo MT, Mathieu A, Sorrentino R.
Identification of previously unrecognized predisposing factors for ankylosing spondylitis from
analysis of HLA-B27 extended haplotypes in Sardinia. Arthritis Rheum. 2007 Aug;56(8):2640-51.
6) Olivieri A, Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, Cascino I, Cordeddu
V, Sorcini M, Stazi MA; Study Group for Congenital Hypothyroidism. High risk of congenital
hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab. 2007 Aug;92(8):3141-7. Epub
2007 May 8.
7) Ristori G, Cannoni S, Stazi MA, Vanacore N, Cotichini R, Alfò M, Pugliatti M, Sotgiu S, Solaro
C, Bomprezzi R, Di Giovanni S, Figà Talamanca L, Nisticò L, Fagnani C, Neale MC, Cascino I,
Giorgi G, Battaglia MA, Buttinelli C, Tosi R, Salvetti M. Multiple sclerosis in twins from
continental Italy and Sardinia: a nationwide study. Ann Neurol. 2006 Jan;59(1):27-34.
8) Petrone A, Giorgi G, Galgani A, Alemanno I, Corsello SM, Signore A, Di Mario U, Nisticò L,
Cascino I, Buzzetti R. CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyteassociated antigen-4 gene region is associated with Graves' disease in an Italian population.
Thyroid. 2005 Mar;15(3):232-8.