Scientists identify genetic variants that cause macular degeneration

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A mutation in a gene that supports blood vessel growth can directly contribute to the onset of age-related macular degeneration, according to a study published in Stem Cell Reports on May 9.

Researchers from the University of California San Diego School of Medicine used stem cells taken from six people to recapitulate retinal cells and create an "eye-in-a-dish model." While studying the model for genetic variants linked to AMD, they discovered that variations in the protein-producing VEGFA gene directly indicated the presence of the disease, a common cause of vision loss in patients over the age of 65.

The exact cause of AMD is still unknown, but the discovery of its link to the VEGFA gene could improve both early diagnosis and treatment of the disease. Additionally, the researchers have made their data publicly available to encourage further research into AMD, and plan to create more retinal models to uncover other influential genetic variants.

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