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GWAS studies highlight three new genes linked to glaucoma, including PLEKHA7, a gene with a putative role in the barrier function of epithelial cells

In late 2012 research by an international consortium of scientists from Asia showed that three new genes appeared to associate with primary angle closure glaucoma (PACG), a significant cause of blindness worldwide. The original research, published in the journal Nature Genetics, reported a genome wide association study that included 3,771 PACG patients and 18,551 controls […]

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Market/Novel Tech

French regulatory authorities seek information from Roche on Avastin use in AMD

The French regulatory agency, Agence nationale de sécurité de médicament et des produits de santé (ANSM), has confirmed that it has written to Swiss pharmaceutical company Roche, requesting information on the use of Avastin (bevacizumab) to treat AMD. The correspondence, posted on the ANSM website, seeks to obtain any data that Roche holds on the […]

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FDA assigns breakthrough therapy designation to innovative gene therapy approach to nyctalopia (night blindness)

SPK-RPE65, a novel gene therapy undergoing development for the treatment of nyctalopia, has received “breakthrough therapy designation” from the FDA. The drug’s sponsor, Spark Therapeutics, Inc., of Philadelphia, Pennsylvania, made the announcement in a press release stating that, “Breakthrough therapy designation is intended to expedite the development and review of investigational therapies for serious or […]

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Newly discovered mutation may account for up to 1% of autosomal dominant retinitis pigmentosa (RP)

Collaborative research, led by the Human Genetics Centre at the University of Texas Health Science Centre in Houston, has successfully described a new genetic mutation in a novel disease gene on chromosome 10q22.1. Exomic sequencing in a large six-generation family led to the identification of a novel coding variant in the hexokinase 1 (HK1) gene. […]

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