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The Ophthalmologist / Issues / 2020 / Feb / Monkey See?
Retina

Monkey See?

A newly-identified mutation in monkeys could spur development of cell and gene therapies for BBS

By Lauren Robertson 2/17/2020 1 min read

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Bardet-Biedl syndrome (BBS) – a rare form of retinitis pigmentosa (RP) that begins with degeneration of the macula – affects central vision and is therefore particularly debilitating, even in its early stages. To date – and despite ongoing research, there is no proven effective treatment for any form of RP, and so, beyond providing a diagnosis, clinicians can do very little for patients.

Now, a team of researchers at Oregon Health and Sciences University, USA, have identified a gene mutation associated with BBS in a family of rhesus macaques, which could kick off development of cell and gene therapies for treating the condition in humans.

Inspired by the success of Luxturna – the first gene therapy for retinal disease to achieve FDA approval – the team focused their attention on the lack of appropriate animal models for retinal diseases. They surveyed the retinal phenotypes of over 1200 rhesus macaques, eventually identifying a family with a frameshift mutation in the BBS7 gene.

Although most cases of BBS are associated with mutations in the BBS1 and BBS10 genes, the team believe the rare BBS7 mutation can serve as a broader model for translational research. “Photoreceptor replacement therapy is an active area of research, and the information gained from our monkey BBS7 model is likely to generalize not only to all forms of BBS, but to all forms of RP and other photoreceptor degenerations,” says Martha Neuringer, Professor of Neuroscience at the Oregon National Primate Research Center and Research Associate Professor of Ophthalmology in the OHSU School of Medicine.

With funding from Research to Prevent Blindness and the National Eye Institute, the team are now working to propagate the BBS7 model; “In the future, we hope to be able to establish a colony of animals as a valuable resource for testing a variety of therapeutic strategies, including gene- and cell-based therapies,” adds Neuringer. “Our aim is to demonstrate the efficacy of such therapies, enabling them to be used in the clinic to preserve the sight of retinal degeneration patients.”

About the Author(s)

Lauren Robertson

Deputy Editor at The Ophthalmologist.

More Articles by Lauren Robertson

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