Annarita Miccio

This paper introduces TILV, a CRISPR-assisted method for precise targeted integration of transgenes in human hematopoietic stem cells using IDLV donors, showing improved efficiency and minimal impact on cell viability.

This paper demonstrates that replacing the BCL11A repressor binding site with a TAL1:GATA1 activator motif in HBG1/2 promoters enhances γ-globin reactivation and corrects sickle cell disease in hematopoietic stem/progenitor cells.

CleanFinder is a scalable framework for analyzing genome editing outcomes, enabling detailed genotyping and comparison across diverse edit types and contexts.

This study uses multiplex base editing to target BCL11A enhancers, increasing fetal hemoglobin production and reducing sickle cell disease symptoms without causing significant genomic damage.

This study investigates VEXAS anemia, showing that UBA1 mutations affect erythroblast differentiation but not mature red cells, leading to a mosaic erythroblastopenia.

This paper describes a prime editing strategy to modify γ-globin promoters in HSPCs to increase HbF expression for sickle cell disease treatment.

Preclinical safety and efficacy studies of a new gene therapy approach for patients with severe β-hemoglobinopathies.

This study evaluates the safety and efficacy of CRISPR/Cas9-mediated HbF reactivation in sickle cell disease by testing it in patient-derived HSPCs and shows it is effective but has off-target effects.

This study characterizes the transcriptional and epigenetic profiles of hiPSC-NSCs and evaluates their safety in vivo, showing they resemble fetal NSCs and are safe for transplantation.

This study develops a bifunctional lentiviral vector for sickle cell disease that combines gene addition and gene silencing to reduce HbS levels and improve treatment efficacy.