A5069515718- CAR-T cell therapy research
- Virus-based gene therapy research
- Congenital heart defects research
- Pediatric Hepatobiliary Diseases and Treatments
- Cytomegalovirus and herpesvirus research
- Folate and B Vitamins Research
- Cancer-related Molecular Pathways
- Congenital Anomalies and Fetal Surgery
- Down syndrome and intellectual disability research
- RNA Interference and Gene Delivery
- Renal and related cancers
- Cell death mechanisms and regulation
- Hematopoietic Stem Cell Transplantation
- Neonatal Respiratory Health Research
The San Raffaele Telethon Institute for Gene Therapy
2016-2019
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2019
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2018-2019
Vita-Salute San Raffaele University
2018
San Raffaele University of Rome
2013
Loss of adenosine deaminase activity leads to severe combined immunodeficiency (ADA-SCID); production and function T, B, natural killer (NK) cells are impaired. Gene therapy (GT) with an autologous CD34+-enriched cell fraction that contains CD34+ transduced a retroviral vector encoding the human ADA cDNA sequence immune reconstitution in most patients. Here, we report short- medium-term safety analyses from 18 patients enrolled as part single-arm, open-label studies or compassionate use...
The molecular mechanisms that underlie spleen development and congenital asplenia, a condition linked to increased risk of overwhelming infections, remain largely unknown. transcription factor TLX1 controls cell fate specification organ expansion during development, Tlx1 deletion causes asplenia in mice. Deregulation expression has recently been proposed the pathogenesis patients carrying mutations gene-encoding SF-1. Herein, we have shown TLX1-dependent regulation retinoic acid (RA)...
PREP1 (PKNOX1) maps in the Down syndrome (DS) critical region of chromosome 21, is overexpressed some DS tissues and might be involved phenotype. By using fibroblasts from patients by overexpressing Prep1 F9 teratocarcinoma Prep1i/i MEF to single out role protein, we report that excess increases sensitivity cells genotoxic stress extent apoptosis directly correlates with level Prep1. The apoptotic response Prep1-overexpressing mediated pro-apoptotic p53 protein show a direct target Prep1, as...
Collection of an adequate amount autologous haematopoietic stem progenitor cells (HSPC) is required for ex vivo manipulation and successful engraftment certain inherited disorders. Fifty-seven paediatric patients (age 0.5–11.4 years) underwent a bone marrow harvest the purpose HSPC gene therapy (GT), including adenosine deaminase-severe combined immunodeficiency (ADA-SCID), Wiskott–Aldrich syndrome (WAS) metachromatic leukodystrophy (MLD) patients. Total nucleated percentage absolute counts...