SUMMARY

Among the most important achievements of our group 2014, we can highlight the accomplishment of the molecular study of all patients enrolled in the National Registry for Clinical and Molecular Profile of von Willebrand Disease in Spain (PCM-EVW-ES), a multicenter project that involves the largest Spanish hospitals and that recruited more than 550 patients suffering from different types of VWD. The application of the high-throughput NGS technology to perform the molecular diagnosis of a large cohort of patients is providing invaluable results for a powerful investigation in the pathophysiological mechanisms of VWD in correlation with molecular defects, shedding light on the complex genotype-phenotype relationship.

Furthermore, we have underway the development of the study awarded by the 2013 European ASPIRE Hemophilia Awards (Pfizer), entitled “Development of a high-throughput platform for Hemophilia A drug screening and gene correction using induced pluripotent stem cells (iPSCs) from patients”. The project is based on the technology developed and in the knowledge acquired during the progress of a European transnational coordinated project (HEMO-iPS) funded by E-Rare-2 (ERA-Net for Research on Rare Diseases). The overall objective is focused on the development of optimized molecular tools to perform functional studies related to the production, processing, secretion, and half-life of FVIII in disease-relevant cells from hemophilia patients. Ultimately, we are interested in setting up and refining a platform for accurate and cost-effective high-throughput drug screening to study the potential therapeutic mechanisms that may be applicable in clinical trials.