Sandra D'Alfonso
Sandra D'Alfonso
affiliation: Università del Piemonte Orientale
research area(s): Genetics And Genomics
Course: Biomedical Sciences and Human Oncology
University/Istitution: Università di Torino
Academic degree
-1988: degree in Biological Sciences with the score 110/110, Torino University, Italy.
-1995: PhD degree in Human Genetics, Torino University, Italy.

Present position:
Since 2004 Associate Professor of Medical Genetics, Medical School of Novara, A. Avogadro, University of Eastern Piedmont
Previous positions:
1996-2004 Researcher of Medical Genetics, Medical School of Novara, A. Avogadro, University of Eastern Piedmont
1989-1991 fellow of different Italian Associations ("Associazione per la Cura e la Prevenzione dei tumori in Piemonte", Comitato Regionale Piemontese Gigi Ghirotti", Regione Piemonte U.S.S.L. Torino VIII ) working in research projects concerning the expression of HLA molecules in leukemic cells.
- November 1989 - February 1990 Attended the laboratory of Cellular Biochemistry directed by Professor Hidde Ploegh at "The Netherlands Cancer Institute" Amsterdam (NL), working to set biochemical tecniques to study the polymorphism of HLA molecules
- 1991- 1995 PhD student of Human Genetics, Torino University, Italy

Scientific activity
-Author of 85 papers on International indexed (IF) journals, 10 chapters in books and over 100 Abstracts, mainly in the field of HLA immunogenetics and of the genetics of autoimmune and neurodegerative diseases.

-Member of the "European Federation for Immunogenetics" (EFI) and "Societa' Italiana Genetica Umana" (SIGU) -Member of the IMSGC (International Multiple Sclerosis Genetics Consortium) Strategy Group

Other Scientific activities:
-Member of the Editorial Board of "Genes and Immunity"
Reviewer for the following Journals: European Journal of Human Genetics, European Journal of Neurology, Journal of Medical Genetics, Tissue Antigens, Journal of Neuroimmunology, Annals of Rheumatic Diseases, Annals of Neurology
-Main research interests: HLA and disease association; linkage and association studies in autoimmune diseases (Multiple Sclerosis, Systemic Lupus Erythematosus, Celiac Disease)and neurodegenerative diseases (Amyotrophic Lateral Sclerosis) utilizing either a "candidate gene" and a "genomewide"
A selection since 2008
1: Bergamaschi, .., D'Alfonso S. Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects. J Med Genet. 2011;48(7):485-92. 2011.

2: Corrado, .., D'Alfonso S. VPS54 genetic analysis in ALS Italian cohort. Eur J Neurol. 2011;18(4):e41-e42.

3: Corrado, .. D'Alfonso S. Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population. J Med Genet. 2011;48(3):210-1.

4: Löfgren SE, .. D'Alfonso S.. Kozyrev SV. A 3'-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus. Arthritis Rheum. 2010;62:3404-14.

5: International Multiple Sclerosis Genetics Consortium (IMSGC). Esposito, .. D'Alfonso S, .. De Jager. IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010;11:397-405.

6: International Multiple Sclerosis Genetics Consortium (IMSGC), Booth, ..D'Alfonso S, .. Haines. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet. 2010;42:469-70;

7: Corrado, ..D'Alfonso S. A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. Neurobiol Aging. 2011;32:552.e1-6.

8: Bergamaschi, .. D'Alfonso S. No evidence of association of the rare nsSNP rs35667974 in IFIH1 with multiple sclerosis. J Neuroimmunol. 2010;221:112-4.

9: Löfgren,..D'Alfonso S.., Kozyrev. Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells. J Rheumatol. 2010;37:574-8.

10: Bergamaschi, .. D'Alfonso S. HLA-class I markers and multiple sclerosis susceptibility in the Italian population. Genes Immun. 2010;11:173-80.

11: Corrado, .. D'Alfonso S, Silani. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet. 2010;47:190-4.

12: Sánchez, .. D'Alfonso S, .. Alarcón-Riquelme, Martín. Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus. Hum Mol Genet. 2009;18:3739-48.

13: Fogh, D'Alfonso S, .. No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. Neurobiol Aging. 2011;32:966-7

14: Brussino, D'Alfonso S, .. Brusco. Mutations in the lamin B1 gene are not present in multiple sclerosis. Eur J Neurol. 2009;16(4):544-6.

15: Liu, .. D'Alfonso S, .., Alarcón-Riquelme, Mohan. Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans. J Clin Invest. 2009;119:911-23.

16: Corrado, .. D'Alfonso S. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat. 2009;30(4):688-94.

17: Delgado-Vega, .., D'Alfonso S, ..Alarcón-Riquelme. Replication of the TNFSF4 (OX40L) promoter region association with systemic lupus erythematosus. Genes Immun. 2009;10(3):248-53.

18: Abelson, ….D'Alfonso S, .. Alarcón-Riquelme. STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk. Ann Rheum Dis. 2009;68(11):1746-53.

19: Orrú, .. D'Alfonso S; .. Bottini. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet. 2009;18(3):569-79.

20: International Multiple Sclerosis Genetics Consortium (IMSGC). Booth, ..D'Alfonso S, .. Haines. Refining genetic associations in multiple sclerosis. Lancet Neurol. 2008;7(7):567-9.

21: Cappellano, Orilieri, Comi, Chiocchetti, Bocca, Boggio, Bernardone , Cometa, Clementi, Barizzone, D'Alfonso S, Corrado, Galimberti, Scarpini, Guerini, Caputo, Paolicelli, Trojano, Figà-Talamanca, Salvetti, Perla, Leone, Monaco, Dianzani. Variations of the perforin gene in patients with multiple sclerosis. Genes Immun. 2008;9(5):438-44.

22: Kozyrev, .. D'Alfonso S, .. Alarcón-Riquelme. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet. 2008;40:211-216

23: D'Alfonso S, ... A sequence variation in the MOG gene is involved in
multiple sclerosis susceptibility in Italy. Genes Immun. 2008;9:7-15.
No projects are available to students for the current accademic year.