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Potential biomarker for diabetic retinopathy uncovered through genome-wide mRNA analysis

Researchers based at the Institute of Ophthalmology, Conde de Valenciana, Mexico City, have published the results of a genome wide mRNA screen which suggest a potential link between alternative splice forms of the TUBD1 gene, and a risk for developing diabetic retinopathy (DR). While the study was performed on a relatively small number of diabetic […]

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Korean study shows that large gene deletions in TSPAN12 appear more common than single nucleotide variants in familial exudative vitreoretinopathy

Researchers investigating the genetic causes of familial exudative vitreoretinopathy (FEVR) in a Korean clinical study have found that patients with TSPAN12 large deletions appear to be more common than patients with single nucleotide variants in the same gene. The finding, if representative of the rare disorder, may suggest that clinical evaluation in new suspect cases […]

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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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