Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
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چکیده
منابع مشابه
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
There are an estimated 5000 people in Ireland who currently have an inherited retinal degeneration (IRD). It is the goal of this study, through genetic diagnosis, to better enable these 5000 individuals to obtain a clearer understanding of their condition and improved access to potentially applicable therapies. Here we show the current findings of a target capture next-generation sequencing stu...
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Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the goal of providing clear and actionable ge...
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in this issue of irjo movassat et al1 (p: 33-38) present a case series of leber's congenital amaurosis (lca). lca is the most severe form of inherited retinal dystrophy responsible for congenital blindness with an early age of onset and accounts for at least 5% of all inherited retinal diseases which affect about one in 3500 individuals in the world. usually degenerative anomalies of the r...
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Many retinal degenerations both inherited and induced are characterized by a loss of vision that is associated with death of photoreceptors. Inherited retinal diseases, which include Retinitis Pigmentosa (RP), form the largest single cause of blindness in the developed world. The genetics of RP is complex and approximately 48 genes have been implicated in the pathology of this disorder, in addi...
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Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11: 307-316.). IRDs may be inherited as Mendelian traits or t...
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ژورنال
عنوان ژورنال: Genes
سال: 2017
ISSN: 2073-4425
DOI: 10.3390/genes8110304