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Scientists at the University of Wisconsin‒Madison have published a proof-of-concept method to correct an inherited form of macular degeneration that causes blindness, and that is currently untreatable.
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July 30, 2020
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<p>Best vitelliform macular degeneration, or Best disease, is an inherited eye condition that typically leads to blindness over the course of a few decades. The disease can be caused by more than two hundred mutations in the <em>BEST1</em> gene.</p><p>The researchers were able to correct the disease in stem cells from patients with <em>BEST1</em> mutations by overwhelming broken copies of the gene with many functional copies of <em>BEST1</em>. This approach worked for most, but not all, of the <em>BEST1</em> mutations that they tested. As an alternative approach for mutations that did not respond to this gene augmentation method, the team used CRISPR-Cas9 gene editing to target and correct the mutations.</p>
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