There has been recent growth in the number and magnitude of clinical trials for various forms of retinal gene therapy. Because of regulatory requirements, and to better understand vector safety profiles, there is a need for standardised and effective methods to collect, process, and store biological samples taken from trial patients that can be used to assess the dissemination of the vector within bodily fluids and any systemic cellular and humoral immune responses.
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A Comprehensive Analysis of Sex-Biased Gene Expression in the Aging Human Retina Through a Combination of Single-Cell and Bulk RNA Sequencing.
Invest Ophthalmol Vis Sci
January 2025
Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Purpose: Previous studies have reported divergent sexual responses to aging; however, specific variations in gene expression between aging males and females and their potential association with age-related retinal diseases remain unclear. This study collected data from public databases and developed a comprehensive comparison of retina between aging females and males.
Methods: Single-cell RNA (scRNA) and bulk RNA sequencing data of the aging retina from females and males in public databases were utilized for integrated analysis to investigate sex-biased expression in retina.
Inferior sectoral chorioretinopathy in two patients with novel heterozygous mutations.
Ophthalmic Genet
January 2025
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
An update on the ocular manifestations of dengue.
Taiwan J Ophthalmol
January 2024
Asociados de Macula, Vitreo y Retina de Costa Rica, Primer Piso Torre Mercedes Paseo Colon, San Jose, Costa Rica.
Dengue is the most common arboviral disease. It is typically spread by the bite of an infected female or mosquitoes. Dengue is endemic in subtropical and tropical regions, but its geographic reach keeps expanding.
View Article and Find Full Text PDFUtility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.
Taiwan J Ophthalmol
December 2024
Singapore National Eye Centre, Singapore Eye Research Institute, Singapore.
Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes.
View Article and Find Full Text PDFIntegration of multiomic data identifies core-module of inherited-retinal diseases.
Hum Mol Genet
January 2025
Department of Ophthalmology, Baylor College of Medicine, 6565 Fannin St, NC205, Houston, TX 77030 United States.
Human diseases with similar phenotypes can be interconnected through shared biological pathways, genes, or molecular mechanisms. Inherited retinal diseases (IRDs) cause photoreceptor dysfunction due to mutations in approximately 300 genes, affecting visual transduction, photoreceptor morphogenesis, and transcription factors, suggesting common pathobiological mechanisms. This study examined the functional relationship between known IRDs genes by integrating binding sites and gene expression data from the key photoreceptor transcription factors (TFs), Crx and Nrl.
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