Targeted next generation sequencing identified novel loss ‐of‐function mutations in MERTK gene in Chinese patients with retinitis pigmentosa

ConclusionOur present study also demonstrates the significance of targeted next generation sequencing in determining the genetic basis of RP.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

We report generation of two distinct S-opsin expressing populations in NRL null retinal organoids and identify MEF2C as a candidate regulator of cone development.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
ConclusionsPanel ‐based targeted exome sequencing was used to identify three novel variants of RP causative gene, and we also detected a known pathogenic variants of blue‐blindness causative genes in two patients. Our finding will provide a powerful basis for genetic counseling and enhance our current understand ing of the genetics factors for RP families.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
(University of New Hampshire) UNH Researchers have reported the first structural model for a key enzyme, and its activating protein, that can play a role in some genetically inherited eye diseases like retinitis pigmentosa and night blindness.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Authors: Cho C, Duong TT, Mills JA Abstract Patient-derived human-induced pluripotent stem cells (iPSCs) have been critical in advancing our understanding of the underlying mechanisms of numerous retinal disorders. Many of these retinal disorders have no effective treatment and result in severe visual impairment and even blindness. Among the retinal degenerative diseases modeled by iPSCs are age-related macular degeneration (AMD), glaucoma, Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and autosomal dominant retinitis pigmentosa (adRP). In addition to studying retinal disease ontogenesis and patholog...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Authors: Spencer WJ, Arshavsky VY Abstract PRCD (progressive rod-cone degeneration) is a small ~6 kDa protein with unknown function that specifically resides in photoreceptor discs and interacts with rhodopsin. PRCD's discovery resulted from decades-long study of a canine retinal disease called progressive rod-cone degeneration which is one of the most frequent causes of blindness in dogs characterized by the slow, progressive death of rod photoreceptors followed by cones. A series of genetic studies eventually mapped the disease to a single point mutation in a novel gene which was then named Prcd. Highlightin...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Abstract Outer retinal degenerative diseases, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD), are among the leading causes of incurable blindness in the Western world [1]. Retinal prostheses have been shown to restore some useful vision by electrically stimulating the remaining retinal neurons [2]. In contrast to inherited retinal degenerative diseases (e.g., RP), typically leading to a complete loss of the visual field, in AMD patients the disease is localized to the macula, leaving the peripheral vision intact. Implanting a retinal prosthesis in the central macula in AMD patients [3...
Source: Current Biology - Category: Biology Authors: Tags: Curr Biol Source Type: research
Publication date: Available online 14 December 2019Source: Progress in Retinal and Eye ResearchAuthor(s): Iqbal Ahmad, Pooja Teotia, Helen Erickson, Xiaohuan XiaAbstractDegeneration of specific retinal neurons in diseases like glaucoma, age-related macular degeneration, and retinitis pigmentosa is the leading cause of irreversible blindness. Currently, there is no therapy to modify the disease-associated degenerative changes. With the advancement in our knowledge about the mechanisms that regulate the development of the vertebrate retina, the approach to treat blinding diseases through regenerative medicine appears a near ...
Source: Progress in Retinal and Eye Research - Category: Opthalmology Source Type: research
This article aims to provide an overview about NGS technology and its related platforms. The challenges in the analysis and choosing an appropriate NGS method likewise their potential applications in clinical diagnosis are also discussed. The merit of such technique has been reflected in some recent studies where it is shown that using NGS and molecular information could help with clinical diagnosis, providing potential treatment options or changes, up-to-date family counseling and management. PMID: 31755340 [PubMed - in process]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
X-linked retinoschisis (XLRS) is an inherited ocular disease caused by mutations in the RS1 gene which results in the abnormal splitting of the retinal layers. It is the leading cause of macular degeneration in males, and approximately 1:15,000 individuals in the US are affected by this condition.   XLRS causes progressive vision loss, and affected individuals are unable to perform simple daily activities such as reading, writing and driving. This condition can lead to vitreous hemorrhage and retinal detachment in up to 40% of patients – resulting in total blindness.A current treatment option includes a tissue-s...
Source: NIH OTT Licensing Opportunities - Category: Research Authors: Source Type: research
Eyevensys, a clinical-stage biotechnology company based in France, has developed a method to perform non-viral gene therapy in the eye, with the aim of treating ocular diseases. The system uses ocular electrotransfection to deliver therapeutic genes ...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Genetics Ophthalmology Source Type: blogs
More News: Blindness | China Health | Genetics | Opthalmology | Retinitis Pigmentosa | Study | Vitamin A