Jordi Surrallés

Fanconi Anaemia E3 Ligase complex activity is regulated by a druggable metabolite binding site in FANCX

The paper identifies a druggable metabolite binding site in the FA E3 ligase complex that inhibits its activity and selectively kills BRCA1-deficient cells.

Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia

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

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Gene Therapy Restores the Transcriptional Program of Hematopoietic Stem Cells in Fanconi Anemia

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

Therapeutic gene editing in hematopoietic progenitor cells from a mouse model of Fanconi anemia

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.