UW Researchers Devise Approach to Treat Rare, Incurable Form of Blindness

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.

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 BEST1 gene.

The researchers were able to correct the disease in stem cells from patients with BEST1 mutations by overwhelming broken copies of the gene with many functional copies of BEST1. This approach worked for most, but not all, of the BEST1 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.

A paper chronicling the research, co-led by David Gamm, MD, PhD, professor of ophthalmology and visual sciences in the School of Medicine and Public Health, was published online July 23 in the American Journal of Human Genetics. The study was also led by Kris Saha, PhD, CMB trainer and associate professor of biomedical engineering and Wisconsin Institute for Discovery, and Bikash Pattnaik, PhD, assistant professor of pediatrics.

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