Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.

doi:10.1172/jci.insight.171650

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Article

Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.

JCI insight - 22 May 2024

Giménez Yari, Palacios Manuel, Sánchez-Domínguez Rebeca, Zorbas Christiane, Peral Jorge, Puzik Alexander, Ugalde Laura, Alberquilla Omaira, Villanueva Mariela, Río Paula, Gálvez Eva, Da Costa Lydie, Strullu Marion, Catala Albert, Ruiz-Llobet Anna, Segovia Jose Carlos, Sevilla Julián, Strahm Brigitte, Niemeyer Charlotte M, Beléndez Cristina, Leblanc Thierry, Lafontaine Denis Lj, Bueren Juan, Navarro Susana

Abstract excerpt

This study lays the groundwork for future lentivirus-mediated gene therapy in patients with Diamond Blackfan anemia (DBA) caused by mutations in ribosomal protein S19 (RPS19), showing evidence of a new safe and effective therapy. The data show that, unlike patients with Fanconi anemia (FA), the hematopoietic stem cell (HSC) reservoir of patients with DBA was not significantly reduced, suggesting that collection...

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Identifiers

PMID: 38775150
DOI: 10.1172/jci.insight.171650
PMCID: PMC11141922

Genes

RPS19
CD34

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.PMID 38775150Read ↗

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