Publications by authors named "Giulia Pais"
Article Synopsis
- Hematopoietic Stem Cell (HSC) gene therapy can potentially provide long-lasting treatment for various genetic blood disorders, but its effects in different patients are not fully understood.
- A study involving 53 patients with conditions like metachromatic leukodystrophy and β-thalassemia showed that the success of HSC gene therapy varies based on disease type, age, and extent of correction.
- The research identified that while half of the treated patients had stem cells with broad lineage potential, the other half showed specific preferences for producing certain types of blood cells based on their underlying conditions, indicating that HSC function adapts to disease circumstances.
Hematopoietic stem cell gene therapy (GT) using a γ-retroviral vector (γ-RV) is an effective treatment for Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency. Here, we describe a case of GT-related T-cell acute lymphoblastic leukemia (T-ALL) that developed 4.7 years after treatment.
View Article and Find Full Text PDFIn physiological conditions, few circulating hematopoietic stem/progenitor cells (cHSPCs) are present in the peripheral blood, but their contribution to human hematopoiesis remain unsolved. By integrating advanced immunophenotyping, single-cell transcriptional and functional profiling, and integration site (IS) clonal tracking, we unveiled the biological properties and the transcriptional features of human cHSPC subpopulations in relationship to their bone marrow (BM) counterpart. We found that cHSPCs reduced in cell count over aging and are enriched for primitive, lymphoid, and erythroid subpopulations, showing preactivated transcriptional and functional state.
View Article and Find Full Text PDFArticle Synopsis
- * A new lentiviral transduction protocol was developed to successfully manipulate long-term repopulating quiescent HSC by addressing barriers like vector entry and limited resource availability.
- * This enhanced method, using cyclosporin H and deoxynucleosides, results in effective level of genetic modifications and improved HSC engraftment compared to traditional culture techniques, paving the way for future genetic engineering strategies.
Article Synopsis
- Longitudinal clonal tracking studies using high-throughput sequencing have shown promise in gene therapy, but managing massive data over long periods presents computational challenges that existing tools can't solve.
- ISAnalytics is a new R package designed to facilitate clonal tracking studies by utilizing vector integration sites, allowing researchers to evaluate safety and efficacy in treatments, exemplified by a clinical trial for Hurler disease.
- The package prioritizes user-friendly analysis with metadata-driven functionalities, efficient data structures, and compatibility with laboratory workflows, making it versatile for various applications like genetic barcoding and cancer immunotherapies.