Deficiencies in the SLC6A1 gene, encoding the γ-aminobutyric acid transporter GAT-1, are associated with infantile encephalopathy with intellectual disability. Like other neurodevelopmental disorders, SLC6A1-related disorders lack effective treatments; therefore, gene therapy using viral vectors has been proposed as a potential therapeutic strategy.
Researchers have described the development of a novel murine model of glioblastoma established with a patient-derived xenograft (PDX) in humanized mice that harbored an almost complete human immune microenvironment.
Investigators from the University of Turin have developed and characterized a new murine immunocompetent model of Usp18-knockout leiomyosarcoma (LMS). LMS is a rare malignant soft tissue cancer with limited therapeutic options when in advanced stages.
Pulmonary arterial hypertension (PAH) is a condition characterized by high blood pressure in the pulmonary arteries, potentially leading to heart failure. Previous research had found that knockout of Egln1 specific to endothelial cells, which encodes prolyl 4-hydroxylase-2, led to spontaneous PAH development.
Investigators from New York State Office for People with Developmental Disabilities (OPWDD) and affiliated organizations have reported the discovery and preclinical characterization of a gene therapy as well as a new animal model for Ogden syndrome.
Researchers from Congruence Therapeutics Inc. have described the development of a mouse model of genetic obesity with a clinically relevant, naturally occurring human melanocortin MC4 receptor (MC4R) mutation.
Reducing microglial activity in the presence of apolipoprotein E4 (APOE4) has uncovered a mechanism associated with the deposition of misfolded amyloid and tau in a novel mouse model of Alzheimer’s disease. By transplanting human neurons into the mouse brain and eliminating the mouse microglia, scientists at the Gladstone Institutes in San Francisco observed that amyloid and tau deposition was reduced. These results support therapeutic strategies that target APOE4 and microglia.
The abscopal effect occurs when therapy leads to the regression of metastases distant from the target tumor. In the current study, researchers from INSERM aimed to evaluate the abscopal effect potentially inducted by the use the targeted radionuclide therapy (TRT) candidate, [131I]ICF-01012, which has been previously shown to target only pigmented metastases.
