| Major Research Fields |
| 1991-1996 |
| Clinical and laboratory aspects of hereditary coagulation disorders (thrombophilia and emophilia) |
| 1996-1998 |
Identification of novel mutations in families affected by factor VII deficiency. |
| 1998-1999 |
| Expression of factor VII mutations through mutagenic models. |
 |
2002 |
Molecular characterization of the ADAMTS-13 gene in thrombotic thrombocytopenic purpura patients, monoclonal and polyclonal antibody anti-ADAMTS-13 to set-up the competitive and sandwich ELISA to quantify ADAMTS-13 protein ; |
| 2005 - present |
| Implementation of a novel thrombotic thrombocytopenic purpora database for the collection of clinical, genetic and therapeutic data (ttpdatabase.org) |
| Basis research on molecular and immunological aspects of patients affected by autoimmune TTP. Purification and characterization of anti ADAMTS13 autoantibodies in autoimmune TTP; |
| Development of new techniques for prenatal diagnosis in early stage of pregnancy in women carriers of hemophilia or affected by one of the other rare coagulation disorders; |
| Gene mutation, transcription, translation and transport analysis of FVIII in hemophilic patients with inhibitors. |
Implementation of an International database for the collection of clinical, phenotypic genotypic and therapeutic data related to patients affected by rare bleeding disorders (RBDs: fibrinogen deficiency, Factor (F) II, FV, FVII, FV+FVIII, FX, FXI and FXIII). |
2007 |
Implementation of a European working group finalized to the establishment of an on-line database for the collection of clinical, laboratory and therapeutic data related to patients affected by rare bleeding disorders (RBDs: fibrinogen deficiency, Factor (F) II, FV, FVII, FV+FVIII, FX, FXI and FXIII) ( www.rbdd.eu ). The project has been awarded a grant by PHEA (Public Health Executive Agency). |
| 2008 |
| Organization of a working group focusing on "Menorrhagia in women affected by rare bleeding disorders" . ( www.wrbd.org) |
| Clinical and laboratory aspects of hereditary coagulation disorders (thrombophilia and hemophilia) Genotype and phenotype characterisation of patients affected with rare coagulation diosorders Biochemical characterisation of mutant recombinant proteins causing rare coagulation disorders Implementation of a European working group finalised to the establishment of an on-line database for the collection of clinical, laboratory and therapeutic data related to patients affected by rare bleeding disorders (RBDs: fibrinogen deficiency, Factor (F) II, FV, FVII, FV+FVIII, FX, FXI and FXIII) (www.rbdd.eu). The project has been awarded a grant by PHEA (Public Health Executive Agency) Implementation of an International database (www.rbdd.org) for the collection of clinical, phenotypic genotypic and therapeutic data related to patients affected by rare bleeding disorders Organization of a working group focusing on “Menorrhagia in women affected by rare bleeding disorders” (www.wrbd.org) Development of new techniques for prenatal diagnosis in early stage of pregnancy in women carriers of hemophilia or affected by one of the other rare coagulation disorders Gene mutation, transcription, translation and transport analysis of FVIII in hemophilic patients with inhibitors Implementation of a novel thrombotic thrombocytopenic purpora database for the collection of clinical, genetic and therapeutic data (www.ttpdatabase.org) Basis research on molecular and immunological aspects of patients affected by autoimmune thrombotic thrombocytopenic purpora. Purification and characterization of anti-ADAMTS13 autoantibodies in autoimmune thrombotic thrombocytopenic purpora Molecular characterization of the ADAMTS13 gene in thrombotic thrombocytopenic purpura patients, monoclonal and polyclonal antibody anti-ADAMTS13 to set-up the competitive and sandwich ELISA to quantify ADAMTS13 protein |
