图书简介
This volume details the history of Retinitis Pigmentosa and current treatment options. Chapters guide readers through CRISPR, gene therapy, stem cell therapy, next-generation sequencing methods, gene editing, and translational applications of other therapies to the treatment of Retinitis Pigmentosa. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Retinitis Pigmentosa aims to be a useful practical guide to researches to help further their study in this field.
Introduction and History of Retinitis Pigmentosa.- Etiology of Retinitis Pigmentosa.- Clinical Evaluation of Patients with Retinitis Pigmentosa.- Molecular Genetic Testing Approaches for Retinitis Pigmentosa.- Pedigree Analysis of Families and Patients Affected by Retinitis Pigmentosa.- Whole Genome Sequencing for Detection of Structural Variants in Patients with Retinitis Pigmentosa.- Fundus Imaging Methodologies to Assess RP patients.- The Use of Optical Coherence Tomography in Evaluation of Retinitis Pigmentosa.- Optical Coherence Tomography Angiography (OCTA) findings in Retinitis Pigmentosa.- ERG to Evaluate the Retina in Cases of Retinitis Pigmentosa.- Visual Function Tests: Visual Fields.- Visual Function Tests.- Visual Acuity as a Measurement of Visual Function.- Measure of Visual Function.- Ophthalmic Fluorescein Angiography.- Indocyanine Green Angiography.- Use of the Medmont Dark-Adapted Chromatic Perimeter for Assessing Rod Function in Retinitis Pigmentosa.- Multi-Luminance Mobility Testing Endpoint.- Preclinical Models of Retinitis Pigmentosa.- ERG to evaluate the retina using mouse models.- Autofluorescence Imaging to Evaluate Retinal Disease Progression in Rodent.- Large animal models of retinitis pigmentosa in therapy development and preclinical testing.- CRISPR manipulations in stem cell lines.- CRISPR-mediated genome engineering in cell lines.- CRISPR off-targeting.- CRISPR manipulations in stem cell lines.- Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery.- Culture of Human Retinal Explants for Ex Vivo Assessment of AAV Gene Delivery.- Prime Editing for the Installation and Correction of Mutations causing Inherited Retinal Disease: A Brief Methodology.- Large scale single-nucleus RNA sequencing compatible with complex archived samples.- Vector Shedding and Immunogenicity Sampling in AAV-based Gene Therapy for Retinitis Pigmentosa Patients.- Current Management Options for Patients with Retinitis Pigmentosa.- Challenges of Treatment Methodologies and the Future of Gene Therapy and Stem Cell Therapy to Treat Retinitis Pigmentosa.- Ocular Injection Techniques for Retinitis Pigmentosa: Intravitreal, Subretinal, and Suprachoroidal.- Surgical Approach with Pars Plana Vitrectomy for Subretinal Gene Therapy.
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