”Identification of responsible mutations of haemophilia A in the Spanish population: application to the development of therapeutic alternatives “ .
Coordinator: Francisco Vidal Pérez
Optimization of a direct sequencing procedure for the identification of mutations in the coagulation factor VIII gene. Characterization of the haemophilic population and application to the diagnosis of carrying women and to prenatal diagnosis. Creation of a database with parameters of clinical interest relating them to the mutations responsible for the pathology in our population.
“Direct preimplantation genetic diagnosis from polar body: application to haemophilia and other hereditary diseases.“
Responsable : Dominique Gallardo Sainz.
Development of sensitive molecular techniques capable to identify concrete mutations from the genomic material contained in a first polar body in a fast and reliable manner. Application to families affected of haemophilias A or B or to other diseases in which the causal mutation is well-known.
"Molecular diagnosis of von Willebrand disease: study of genotype-phenotype relationship and application to the clinical diagnosis“
Coordinator : Francisco Vidal Pérez
Optimization of a rapid and reliable protocol for the molecular characterization of the von Willebrand Factor gene that will allow a more precise diagnosis of the von willebrand diseae based on the identification of the mutations responsible for this coagulopathy in our population.