Publications by authors named "B C Mansfield"
Article Synopsis
- * The huR83C mouse model replicates the disease phenotype and has been used to test the effectiveness of BEAM-301, a treatment that utilizes lipid nanoparticles and adenine base editing to correct the harmful G6PC1-R83C variant.
- * BEAM-301 has shown the ability to correct about 60% of the variant in liver cells, restore blood sugar control, improve overall health, and increase survival rates in mice, indicating its potential as a therapeutic option for patients with this specific genetic mutation
This review explores the many barriers to accessing lipid-lowering therapies (LLTs) for the prevention and management of atherosclerotic cardiovascular disease (ASCVD). Geographical, knowledge, and regulatory barriers significantly impede access to LLTs, exacerbating disparities in healthcare infrastructure and affordability. We highlight the importance of policy reforms, including pricing regulations and reimbursement policies, for enhancing affordability and streamlining regulatory processes.
View Article and Find Full Text PDFDiabetes mellitus (DM) is a growing public health concern in South Africa (SA) and poses a substantial economic burden on healthcare globally. A century has passed since the discovery of insulin, and despite advances in diabetes management, exogenous insulin remains a primary treatment for type 1 DM, posing challenges of hyperglycaemia and hypoglycaemia. Pancreas transplantation should be considered a treatment for insulin-deficient DM, offering sustained euglycaemia and preventing complications associated with the disease.
View Article and Find Full Text PDFArticle Synopsis
- Retinitis pigmentosa (RP) is an inherited retinal disorder leading to gradual vision loss, with around 25% of autosomal dominant cases linked to mutations in the rhodopsin gene.
- The study identifies a novel cause of autosomal dominant RP through a unique mono-allelic copy number variation (CNV) in the rhodopsin gene, showcasing advanced retinal degeneration in a 68-year-old patient with multiple copies of the gene.
- Researchers also explored using a small molecule, Photoregulin3 (PR3), to manage disease progression, which showed promise in correcting mislocalization of the rhodopsin protein in patient-derived retinal organoids, indicating potential for personalized medicine approaches in treating RP.