Roser M. Pujol

A patient with Fanconi anemia developed triploid hematopoietic stem cells that lacked the disease phenotype, enabling sustained hematopoiesis through restored DNA repair.

This study shows gene therapy can restore the transcriptional program of hematopoietic stem cells in Fanconi Anemia patients, making them resemble healthy donor cells.

This paper demonstrates efficient gene editing in FA mouse models using TALENs and a donor template at a safe harbor locus, achieving phenotypic correction of FA cells.