UPO Book

Brief Research Description

To treat Hemophilia A (HA), a disorder caused by the deficiency of coagulation factor VIII (FVIII), novel therapeutic approaches aim to identify and exploit cells capable of producing and secreting FVIII. I focused on endothelial cells (ECs) as a relevant cellular source, particularly those derived from induced pluripotent stem cells (iPSCs). We have demonstrated that ECs can be generated, genetically corrected, and used to restore the bleeding phenotype associated with HA. In parallel, we investigated endothelial colony-forming cells (ECFCs) isolated from both healthy donors and HA patients, showing their potential as a platform for cell and gene therapy approaches. More recently, we foused on the extracoagulative role of FVIII, highlighting its contribution to the maintenance of ECs function. Finally, I also work on the differentiation of iPSCs in ECs and megakaryocyte for cell and gene therapy approaches for the Hermansky Pudlak Syndrome as a model to study disease mechanisms.

Keywords

Hemopilia A, endothelial cells, induced pluripotent stem cells, cell therapy, gene therpay

PubMed