Fanconi Anemia is a common disease hereditary syndromes group of bone marrow failure. The induced pluripotent stem (iPS: Induced pluripotent stem cells) can be obtained in vitro from skin fibroblasts and from other somatic cell division, introducing specific genes or gene products that reprogram the somatic cell nucleus matures. The most common protocols used viral vectors to transfer four specific genes (Oct4, Sox2, Klf4 and c-MYC). Similar to embryonic cells, iPS cells can grow indefinitely in the laboratory and have the ability in vitro to differentiate into several cell lines, including hematopoietic line.

This has been the work of scientists at the Center for Regenerative Medicine in Barcelona (CMRB), coordinated by Angel Raya and Juan Carlos Izpisúa Belmonte, in collaboration with experts in Fanconi anemia at the Autonomous University of Barcelona and the CIEMAT in Madrid. In a first attempt, researchers have been unable to reschedule dermal fibroblasts from patients with Fanconi anemia in iPS cells, so it has been necessary to correct the genetic defect in the first place. To do this, have used viral vectors to introduce into cells two corrected versions of two of the genes for Fanconi anemia.

Only then reprogramming has taken place successfully. The iPS cell line has shown no hypersensitivity to DNA damaging agents and hematopoietic progenitor cells derived from iPS cells are phenotypically normal, ie they are free of disease. These data provide a proof of concept of the great potential of iPS cell reprogramming can be used for the generation of specific cells of patients free of disease-specific patient.