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Findings from an international genomics consortium almost double the number of associated genetic loci and variants for AMD

Research conducted by the International AMD Genomics Consortium (IAMDGC) has recently reported an almost doubling in the number of genetic risk loci associated with age-related macular degeneration (AMD). In a significant publication in the journal Nature Genetics, the research group has reported on an analysis of >12 million gene variants, “including 163,714 directly genotyped, mostly […]

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Market/Novel Tech

GenSight Biologics Inc. reports sustained visual acuity 78 weeks after gene therapy treatment for Leber’s Hereditary Optic Neuropathy (LHON)

GenSight Biologics Inc., (EURONEXT: SIGHT), Paris, France, have announced that their GS010 treatment for LHON provides sustained visual acuity 78 weeks after a dose escalating study in each cohort of 3 patients. The GS010 treatment comprises a wild-type functional copy of the mitochondrial ND4 gene, housed within an AAV2 vector and delivered via a single […]

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Whole exome sequencing (WES) continues to yield significant efficiencies in clinical identification of inherited retinal degenerations.

Research results reported by investigators based at the Department of Genetics & Microbiology, University of Barcelona, Spain, have shown that whole exome sequencing (WES) continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders. The Spanish research group worked on a cohort of 33 families with […]

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Research

Analysis of choroideremia gene (CHM) mutations highlight CpG mutation clusters and support gene replacement approaches

Researchers studying the genetic basis of choroideremia have published results highlighting a clustering of lesions around 5 CpG sites within the CHM gene located on the X-chromosome. According to the ocular research group, based at the Nuffield Laboratory of Ophthalmology, University of Oxford, the majority of point mutations occurred at the only 5 CpG sites […]

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Introduction

January 3rd, 2017: “EURETINA-Brief”© Issue No. 146

by Dr. Gearóid Tuohy   Dear EURETINA Members,   A very warm welcome to the January 3rd, 2017 edition of EURETINA’s web-based digital magazine, “EURETINA Brief”. EURETINA are delighted to continue our delivery of up-to-date summary briefs on a range of topics of interest to retinal clinicians, specialists and researchers across Europe. This resource is […]

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Featured

Findings from an international genomics consortium almost double the number of associated genetic loci and variants for AMD

Research conducted by the International AMD Genomics Consortium (IAMDGC) has recently reported an almost doubling in the number of genetic risk loci associated with age-related macular degeneration (AMD). In a significant publication in the journal Nature Genetics, the research group has reported on an analysis of >12 million gene variants, “including 163,714 directly genotyped, mostly […]

Read full story

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