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Ocular Gene Therapy: An Overview of Viral Vectors, Immune Responses, and Future Directions.
Yale J Biol Med
December 2024
Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT, USA.
Ocular gene therapy has rapidly advanced from proof-of-concept studies to clinical trials by exploiting the unique advantages of the eye, including its easy accessibility, relative immune privilege, and the ability to use the contralateral eye as a control. An important step forward was achieved with the Food and Drug Administration (FDA) approval of voretigene neparvovec (Luxturna) for the treatment of biallelic RPE65-mutation-associated retinal dystrophies in 2017. Gene therapy is a promising field aimed at treating various inherited and acquired eye diseases.
View Article and Find Full Text PDFPAM-flexible Engineered FnCas9 variants for robust and ultra-precise genome editing and diagnostics.
Nat Commun
June 2024
CSIR-Institute of Genomics & Integrative Biology, Mathura Road, New Delhi, 110025, India.
The clinical success of CRISPR therapies hinges on the safety and efficacy of Cas proteins. The Cas9 from Francisella novicida (FnCas9) is highly precise, with a negligible affinity for mismatched substrates, but its low cellular targeting efficiency limits therapeutic use. Here, we rationally engineer the protein to develop enhanced FnCas9 (enFnCas9) variants and broaden their accessibility across human genomic sites by ~3.
View Article and Find Full Text PDFA Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Genes (Basel)
November 2023
Research Centre for Medical Genetics, Moscow 115478, Russia.
Unlabelled: Pathogenic variants in the gene cause the only known form of inherited retinal degenerations (IRDs) that are prone to gene therapy. The current study is aimed at the evaluation of the prevalence of RPE65-associated retinopathy in the Russian Federation, the characterization of known variants in the gene, and the establishment of the specificities of the mutation spectrum in Russian patients.
Methods: The analysis was carried out on blood samples obtained from 1053 non-related IRDs patients.
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
Ophthalmology
February 2024
Department of Ophthalmology, University Hospital Bonn, Bonn, Germany; Center for Rare Diseases, University Hospital Bonn, Bonn, Germany.
Purpose: To assess the impact of baseline data on psychophysical and morphological outcomes of subretinal voretigene neparvovec (VN) (Luxturna, Spark Therapeutics, Inc.) treatment.
Design: Single-center, retrospective, longitudinal, consecutive case series.
[Diagnostics and management of patients with inherited retinal diseases in Germany : Results of a nationwide survey of university and non-university eye departments and specialized practices].
Ophthalmologie
November 2023
Klinik für Augenheilkunde, Universitätsklinikum Bonn, Ernst-Abbe Str. 2, 53127, Bonn, Deutschland.
Background: Inherited retinal diseases (IRDs) refer to a heterogeneous group of rare disorders that potentially lead to blindness. Emerging therapeutic options have led to a growing interest in IRDs; however, there are insufficient systematic studies on IRDs in Germany characterizing the demographics and management in clinical practice.
Objective: To characterize the care for IRD patients in Germany, to assess the applied diagnostics, the use of databases and the implementation of education in ophthalmic genetics.
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