Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

France
Italy
Spain
HEMO-iPS
Use of patient-specific induced pluripotent stem cells to improve diagnosisand treatment of hemophilia A

Project Coordinator

Gene and Cell Therapy Vall d'Hebron Research Institute
Barcelona
Spain

Partners

Anne Weber INSERM U972 Le Kremlin Bicetre Paris, France
Francisco Vidal Diagnostic and Moleculat Therapy Unit Blood and Tissue Bank Barcelona, Spain
Piercarla Schinco A.Re.S.S. Piemonte-Azienda Ospedaliera Universitaria S. Giovanni Battista-Molinette Dipartimento di Oncologia e Ematologia Malattie Trombotiche ed Emorragiche Torino, Italy

The blood-clotting disorder hemophilia A (HA) is a rare disease caused by mutations in the F8 gene, for which there is a clear need to develop novel disease models based on the relevant cell types that physiologically express F8. Patient-specific induced pluripotent stem cells (iPSC) offer unprecedented ways to model human diseases in a way that captures the patients’ genomic complexity. Specifically, our project aims are to use and optimize the current protocols for in vitro differentiation of iPSC into 1) functional hepatocytes and 2) functional endothelial cells (EC); 3) to generate HA patient-specific iPSC lines from carefully selected patients, which will be used for 4) assessing the effectiveness of drugs that promote nonsense codon readthrough for treating HA; 5) investigating the functional significance of missense mutations on F8; and 6) optimizing genetic correction of HA patient-specific iPSC. The project consortium is composed by two hospital-affiliated research institutes (VHRI and Molinette), and two higher education Universities (UPO and Paris XI University/INSERM), and will work closely with IBEC (research institute). The consortium Partners will combine specific leading expertise in clinical and molecular biology of HA, cell reprogramming, differentiation of hepatocytes and EC, and gene therapy, as well as significant knowledge of all Partners in different aspects of HA research, in order to create bona fide human disease models using the relevant cell types differentiated from patient-specific iPSC, and strengthening the transnational research cohesion.

E-Rare 2012 - Created by Toussaint Biger