Rare Daily Staff

Three rhesus macaques with a genetic mutation associated with Bardet-Biedl Syndrome, a rare disease that causes blindness, have been discovered, a finding that provides the first known naturally occurring nonhuman primate model of the syndrome.

A study published in the journal Experimental Eye Research, that reports the finding, said it offers a promising way to develop gene and cell therapies that could treat the condition in people.

Bardet-Biedl Syndrome (BBS) leads to vision loss, kidney disfunction, extra fingers or toes, and other symptoms. It occurs in 1 out of 140,000 to 160,000 North American births.

“There is no cure for Bardet-Biedel Syndrome today, but having a naturally occurring animal model for the condition could help us find one in the future,” said Martha Neuringer, one of the authors of the paper and a professor of neuroscience at the Oregon National Primate Research Center at Oregon Health & Science University, and a research associate professor of ophthalmology in the OHSU School of Medicine and OHSU Casey Eye Institute.

Because BBS is part of a larger family of diseases called retinitis pigmentosa, all of which affect the retina, rhesus macaques with the disease could help more than just BBS patients. A naturally occurring animal model for BBS could help researchers find treatments for a variety of retinitis pigmentosa diseases.

The discovery is timely, as gene therapy is already becoming a reality for some with retinal diseases. In the 1990s, researchers discovered dogs that had a gene mutation linked to a congenital blindness-causing condition called Leber’s congenital amaurosis. That animal model played a key role in helping researchers develop what became the first FDA-approved gene therapy for an inherited disease in December 2018. Neuringer’s group also hopes to develop a similar therapy for BBS.

Neuringer and her colleagues are now using a National Eye Institute grant to breed more animals with the naturally occurring mutation underlying BBS. Having more animals with the mutation can help researchers better understand the disease and test potential treatments.

Photo: One of three Rhesus macaques discovered by researchers at OHUS to have a gene mutation that causes BBS (OHUS/Lauren Renner)

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