Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
نویسندگان
چکیده
منابع مشابه
inherited neurodevelopmental brain diseases: applications of homozygosity mapping to identify new genetic causes of disease
abstract objective the last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. however, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of molecular causes of these tremendously complex conditions. common geneti...
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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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These are exciting times in the field of retinal gene therapy, as impressive successes have been achieved by recombinant adenoassociated viral (rAAV) gene delivery of Rpe65 or Rep1 to the retinal pigment epithelium of patients with Lebers congential amaurosis or choroideremia, respectively.1–5 Instead of being left with incurable blindness, patients are reporting restoration of vision. An advan...
متن کاملHomozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
BACKGROUND Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as in...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2016
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2016.83