DIANZANI IRMA
Date of birth: May, 24th 1957
Education:
- 2000-so far: Full Professor of General Pathology, University of Piemonte Orientale, Dept. Medical Sciences, Novara (Italy); she directs the
laboratory of Genetic Pathology.
- 1998-2000: Associate Professor of General Pathology, University of Piemonte Orientale, Dept. Medical Sciences, Novara (Italy); she directs
the laboratory of Genetic Pathology.
- 1996-1998: University research Assistant, University of Turin (Italy), Dept. Genetics, Biology and Biochemistry, working on molecular bases of
inborn errors of Metabolism.
- 1991: PhD in Biology and Biochemistry at Brunel University, London,UK, under the supervision of Trevor F.Slater (Thesis: "Molecular Bases
of Hyperphenyalaninemias").
- 1989-90: she attends as visiting scientist the Murdoch Institute, Melbourne, Australia working on the molecular bases of several
hyperphenylalaninemias and on the development of new methods for mutation detection under the supervision of Richard D. H. Cotton.
- 1988-1992: she attends the laboratory of the Division of Clinica Medica of the University of Turin under the supervision of Clara Camaschella,
working on the molecular bases of phenylketonuria.
- 1986: Specialization in Pediatrics in at the University of Torino,Italy.
- 1985-1996: University research Assistant, University of Turin (Italy), Dept. Pediatrics, working on molecular bases of inborn errors of
Metabolism.
- January-March 1983 and in spring 1997: she attends the Division of Inborn Errors of Metabolism of Hopital Necker in Paris, under the supervision
of Jean-Marie Saudubray working on Inborn Errors of Metabolism.
- 1982-1985: she attends the Dept. Pediatrics of University of Turin (Italy) holding a University Fellowship and working on Inborn Errors of
Metabolism.
- July 1982: M.D. graduation with the score 110/110 cum laude, University of Turin, Italy.
Research interests:
- Her research has been focused on the identification of the molecular basis of inherited diseases.
In detail: two inborn errors of metabolism characterised by hyperphenylalaninemia (defects of phenylalanine hydroxylase?phenylketonuria and
dihydropteridine reductase); alpha and beta?thalassemias; inherited hemochromatosis; cystinuria; diseases due to defects in Fas/FasL mediated
apoptosis; pseudohypoparathyroidism; hypothyroidism due to PAX8 defect; Diamond Blackfan Anemia; search for genetic risk factors for the
development of malignant mesothelioma.
- Moreover, she has developed new methods for mutation detection in the genome (such as several modifications of Chemical Cleavage of
Mismatch).
- Her primary research interest is now focused on elucidating the pathogenesis of DBA and the role of RPS19 in erythropoiesis. As a first step
toward the identification of the molecular basis of DBA, DNA from a large panel of families with DBA were collected and several candidate genes
were excluded, such as the genes for the erythropoietin receptor and for IL?9. Subsequently, a collaborative research, that included Irma Dianzani,
identified the DBA locus on 19q13.2 by linkage analysis.
Microdeletions identified in sporadic patients showed the role for this locus in the pathogenesis of sporadic DBA. Several families unlinked with
19q demonstrated locus heterogeneity. Analysis of candidate genes allowed the identification of the DBA gene, which encodes for ribosomal protein
S19 (RPS19). Mutations in this gene were found in 25% of DBA patients. DBA is the only human disease due to a defect in a ribosomal protein.
More than two hundred patients were studied and the following points were shown: 1) the disease is transmitted with a dominant fashion or is sporadic;
2) a genotype-phenotype correlation has not been found: an identical mutation can be associated with a severe, mild or silent phenotype; 3) patients
without a mutation in RPS19 show a similar phenotype to those that carry a mutation in RPS19. Recently, she has looked for protein interactors of
RPS19 and has showed that the oncoprotein PIM1 is a relevant interactor.
Publications:
- She is author of 115 publications, 97 of which on international journals.