Clara Camaschella

CLARA_CAMASCHELLA-150x150

 

EDUCATION

  • Date of birth: 5/5/48
  • Degree in Medicine (1973, University of Torino)
  • Specialty in Internal Medicine (1979, University of Torino)
  • Specialty in Hematology (1982, University of Pavia)

 

WORK EXPERIENCE

1974/1975: Fellow of Ministero Pubblica Istruzione, University of Torino.

1977/1980: Assistant Professor of Internal Medicine, University of Torino.

1980/1992: Researcher of Internal Medicine, University of Torino.

1986/1994: Associate Researcher of the National Research Council.

1992/2000: Associate Professor of Internal Medicine, University of Torino.

2000/2004: Professor of Internal Medicine, University of Torino and Head of a Unit for Anemias and Iron Disorders, San Luigi Hospital Orbassano (Torino).

October 2004: Professor of Internal Medicine at University Vita-Salute San Raffaele Milan and Head of the Unit “Regulation of Iron Metabolism”, Division of Genetics and Cell Biology, Istituto Scientifico San Raffaele, Milano Italy.

 

SUBJECTS OF INTERESTS

1.Inherited disorders of erythrocytes, especially hemoglobin switching and molecular genetics of thalassemia and hemoglobinopaties;

  1. Inherited disorders of iron metabolism: molecular genetics and pathophysiology of hemochromatosis. Molecular genetics and pathogenesis of iron deficiency and iron loading anemias;
  2. Regulation of the hepcidin pathway;
  3. Acquired disorders of iron metabolism: iron deficiency, anemia of chronic diseases and secondary iron overload.

 

Among the major scientific achievements

  1. Identification of the locus of Juvenile (or Type 2) Hemochromatosis, of the locus and the gene of type 3 Hemochromatosis and identification of hepcidin as the cause of Juvenile Hemochromatosis type 2B.
  2. Identification of a novel form of sideroblastic anemia due to Glutaredoxin 5 deficiency.
  3. Identification of hemojuvelin as the substrate of the hepcidin inhibitor matriptase 2.
  4. Proof of principle of the role of TMPRSS6 in beta-thalassemia.

 

HONORS AND AWARDS

  • Member of the Scientific Committee on Iron and Heme of ASH (2004-2006) and Chair of the Committee (2005-2006).
  • Member of the Editorial Board of Blood (2006-2010).
  • Member of the EHA Board (2007-2011).
  • Associate Editor of Haematologica for “Red cells and iron” (2008-present).
  • IBIS (International Bioiron Society): President Elect, 2009-2011, President 2011-2013.
  • Member of the working group on the WHO-ICD (World Health Organization-International Classification of Diseases) Revision Project (2010-today).
  • Member of the GEV (Group of Evaluation Experts) of the ANVUR (National Agency for Evaluation of Universities and Research Institutes) (2011-today).
  • Member of the SPC of the EHA 17th Congress 2012, Amsterdam, June 14-17, 2012.
  • Member of the SPC of the EHA 18th Congress 2013, Stockholm, June 13-16, 2013.
  • Recipient of the Marcel Simon Price of the International Society of Iron Disorders for research in Hemochromatosis (2003).
  • Invited Ham Wasserman Lecturer at the ASH Meeting 2013, New Orleans December 7-10, 2013.
  • Author of more than 220 papers listed in public medline. H index 38 (Scopus).

 

SELECTED PUBLICATIONS

  1. Roetto A, Di Cunto F, Pellegrino RM, Hirsch E, Azzolino O, Bondi A, Defilippi I, Carturan S, Miniscalco B, Riondato F, Cilloni D, Silengo L, Altruda F, Camaschella C§, Saglio G§. Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues. Blood 2010 Apr;115(16):3382-9. §Joint Authors.
  2. De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat. 2010 May;31(5):E1390-405.
  3. Hentze MW, Muckenthaler MU, Galy B, Camaschella C. Two to tango: regulation of Mammalian iron metabolism. Cell 2010 Jul;142(1):24-38.
  4. Forejtnikovà H, Vieillevoye M, Zermati Y, Lambert M, Pellegrino RM, Guihard S, Gaudry M, Camaschella C, Lacombe C, Roetto A, Mayeux P, Verdier F. Transferrin receptor 2 is a component of the erythropoietin receptor complex and is required for efficient erythropoiesis. Blood 2010 Dec;116(24):5357-67.
  5. Girelli D, Trombini P, Busti F, Campostrini N, Sandri M, Pelucchi S, Westerman M, Ganz T, Nemeth E, Piperno A, Camaschella C. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica 2011 Apr;96(4):500-6.
  6. Pagani A, Nai A, Corna G, Bosurgi L, Rovere-Querini P, Camaschella C and Silvestri L. Low hepcidin accounts for the proinflammatory status associated with iron deficiency. Blood 2011 Jul 21;118(3):736-46.
  7. Traglia M, Girelli D, Biino G, Campostrini N, Corbella M, Sala C, Masciullo C, Viganò F, Buetti I, Pistis G, Cocca M, Camaschella C, Toniolo D. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet. 2011 Sep;48(9):629-34.
  8. Nai A, Pagani A, Silvestri L, Campostrini N, Corbella M, Girelli D, Traglia M, Toniolo D, Camaschella C. TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood. 2011 Oct 20;118(16):4459-62.
  9. Nai A, Pagani A, Mandelli G, Lidonnici MR, Silvestri L, Ferrari G, Camaschella C. Deletion of TMPRSS6 attenuates the phenotype in a mouse model of beta-thalassemia. Blood. 2012 May 24;119(21):5021-9.
  10. Campanella A, Santambrogio P, Fontana F, Frenquelli M, Cenci S, Marcatti M, Sitia R, Tonon G, Camaschella C. Iron increases the susceptibility of multiple myeloma cells to bortezomib. Haematologica. DOI: 103324Haematol 2012,074872.
  11. Camaschella C. How I manage patients with atypical microcytic anaemia. Br J Haematol. 2013 Jan;160(1):12-24
  1. Martinelli N, Traglia M, Campostrini N, Biino G, Corbella M, Sala C, Busti F, Masciullo C, Manna D, Previtali S, Castagna A, Pistis G, Olivieri O, Toniolo D, Camaschella C, Girelli D. Increased serum hepcidin levels in subjects with the metabolic syndrome: a population study. PLoS One. 2012;7(10):e48250. 13. Camaschella C. Clinical Implication of Basic Science: “Treating iron overload”. NEJM, 2013 in press.

 

MAJOR SCIENTIFIC ACHIEVEMENTS

Identification of the locus of Juvenile (or Type 2) Hemochromatosis, of the locus and the gene of type 3 Hemochromatosis and identification of hepcidin as the cause of Juvenile Hemochromatosis type 2B.

Identification of a novel form of sideroblastic anemia due to Glutaredoxin 5 deficiency.

Identification of hemojuvelin as the substrate of the hepcidin inhibitor matriptase 2.

Proof of principle of the role of TMPRSS6 in beta-thalassemia