Annarita Miccio

CRISPR-Mediated Linearization of IDLV Donor Enables Precise Targeted Integration in Human Hematopoietic Stem Cells

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.

Enhanced γ-globin reactivation and sickle cell correction through a repressor-to- activator motif switch in the HBG1/2 promoters

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: A Scalable Framework for Comprehensive Genome Editing Analysis

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

Multiplex base editing of BCL11A regulatory elements to treat sickle cell disease

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.

VEXAS anemia is a mosaic erythroblastopenia

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

A prime editing strategy to rewrite the γ-globin promoters and reactivate fetal hemoglobin for sickle cell disease

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

Base editing of β0 thalassemia mutations as a therapeutic strategy for β-hemoglobinopathies: efficacy and genotoxicity studies

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

Human iPSC-derived neural stem cells display a radial glia-like signature in vitro and favorable long-term safety in transplanted mice

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.

Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies

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.