Mario Amendola

This study uses human liver organoids to model Wolman disease, showing multicellular interactions drive disease features and therapeutic responses.

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.

GENETHOFF is a Snakemake workflow for analyzing CRISPR/Cas9 off-targets from GUIDE-Seq data, handling multiple organisms and Cas nucleases through a metadata-driven approach.

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 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.

The paper develops a liver-targeted gene therapy using recombinant AAV8 to cure Lysosomal acid lipase deficiency by correcting lipid accumulation and normalizing gene expression and mitochondrial function in a mouse model.

This paper characterizes lysosomal storage disease using imaging and cytometry to assess lipid homeostasis in patient cells and validates findings in alternative models.

This study uses CRISPR-Cas9 to disrupt miR binding sites and upregulate utrophin in DMD models, showing functional improvements and therapeutic potential.

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.