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

Haematologica · Apr 6, 2023Peer-reviewedGenetic & Genomic Medicine

Adenine base editing is an efficient approach to restore function in FA patient cells without double-stranded DNA breaks

Sebastian M. Siegner, Laura Ugalde, Alexandra Clemens, Laura García‐García, Juan Antonio Bueren, Paula Rı́o, Mehmet E. Karasu, Jacob E. Corn

This study demonstrates that adenine base editing can restore FANCA function in FA patient cells without causing DNA breaks, showing promise for therapeutic applications.

Nature Communications · Nov 12, 2022Peer-reviewedMolecular Biology

Clinically Relevant Gene Editing in Hematopoietic Stem Cells for the Treatment of Pyruvate Kinase Deficiency Hemolytic Anemia

Sara Fañanas-Baquero, Oscar Quintana Bustamante, Daniel P. Dever, Omaira Alberquilla, Rebeca Sánchez‐Domínguez, Joab Camarena, Isabel Ojeda-Pérez, Mercedes Dessy-Rodríguez, Rolf Turk, Mollie S. Schubert, Annalisa Lattanzi, Liwen Xu, José Luis López Lorenzo, Paola Ilaria Bianchi, Juan Antonio Bueren, , Jose Carlos Segovia

This study uses gene editing in hematopoietic stem cells to treat Pyruvate Kinase Deficiency Hemolytic Anemia, restoring RPK function and ATP levels in erythroid cells.

Molecular Therapy — Methods & Clinical Development · May 13, 2021Peer-reviewedGenetics

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

María José Pino-Barrio, Yari A. Gimenez, M Villanueva, Marcus Hildenbeutel, Rebeca Sánchez‐Domínguez, Sandra Rodríguez, Roser M. Pujol, Jordi Surrallés, Paula Rı́o, Toni Cathomen, Claudio Mussolino, Juan Antonio Bueren, Susana Navarro

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.

bioRxiv · Jul 5, 2018 · PreprintMolecular Biology