![]() Western countries, GD type 1 (GD1) is the most common phenotype (~94% of patients) and typically manifests with hepatosplenomegaly, bone disease, cytopenias, and variably with Major clinical types delineated by the presence (types 2 and 3) orĪbsence (type 1) of central nervous system involvement areĬommonly used for determining prognosis and management2. GD encompasses a spectrum of clinical findingsįrom a perinatal-lethal form to mildly symptomatic forms. (GCase) deficiency and the accumulation of glycolipids inĬell types with high-glycolipid degradation burden, especially ✉email: COMMUNICATIONS | (2020)11:3327 | | 1Īucher disease (GD) is genetic disorder caused by mutations in the GBA gene that result in glucocerebrosidase 4These authors contributed equally: Samantha G. 3 Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA. 2 Gene Therapy Center, Hospital de Clinicas de Porto Alegre, PortoĪlegre, Brazil. Furthermore, it constitutes an adaptable platform for otherġ Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. The combination of a safe-harbor and a lineage-specific promoter establishesĪ universal correction strategy and circumvents potential toxicity of ectopic glucocerebrosidase in the stem cells. Maintain long-term repopulation and multi-lineage differentiation potential with serial The targeted cells generate glucocerebroside-expressing macrophages and Here, we report an efficient CRISPR/Cas9-basedĪpproach that targets glucocerebrosidase expression cassettes with a monocyte/macrophage-specific element to the CCR5 safe-harbor locus in human hematopoietic stem and Potential one-time therapy for this disease. Glucocerebrosidase expression, thereby replacing the affected cells, and constituting a Of recombinant glucocerebroside and orally-available glucosylceramide synthase inhibitors.Īn alternative approach is to engineer the patient’s own hematopoietic system to restore Current therapies for Gaucher disease include life−long intravenous administration Its hallmark manifestations are attributed to infiltration and inflammation by macrophages. Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosideĪctivity. Lucot 3, Pasqualina Colella 1,Īdam Sheikali1, Thomas J. Scharenberg 1,4, Edina Poletto 2,4, Katherine L. Hematopoietic stem cells using genome editing
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