Scientists have been studying animals in order to better understand certain diseases for years. In fact, a genetic disorder that causes blindness called Leber’s congenital amaurosis was found in dogs in the 1990s. Based off of research of this disorder, the first gene therapy was approved by the FDA in 2018. That is why the discovery of a gene that is associated with Bardet-Biedl syndrome in rhesus macaques is so important. Martha Neuringer Ph.D., a professor of neuroscience at the Oregon National Primate Research Center at Oregon Health & Science University, believes that these monkeys can help them better understand the disease and create treatments that can also be applicable to humans.
About Bardet-Biedl Syndrome
Bardet-Biedl syndrome, once thought to be the same as Laurence-Moon syndrome, is an autosomal recessive rare disorder that primarily affects cells that receive light. Cone and rod cells in the retina deteriorate when one has this syndrome. There are twelve separate genes that can cause Bardet-Biedl syndrome, but the most common one is the BBS1 gene. The similarity between these cells is that they all affect cilia, which cover nearly all cells in the body. Cilia are responsible for normal health and development. Because these genes affect the function of the cilia, nearly all of the symptoms are due to this dysfunction. These symptoms can vary greatly from person to person, but they are characterized by visual impairments. People’s vision worsens as they age, and they can experience tunnel vision, night-blindness, or complete blindness. Along with the worsening of vision, people can experience crossed eyes, rapid eye movement, cataracts, or glaucoma.
Beyond visual impairments, symptoms can include an additional toe or finger, short digits, webbing of the fingers or toes, short, wide, or flat feet, delayed puberty, speech impediments, behavioral issues, abnormalities in gait, high blood pressure, trouble with smelling, and ataxia. After these symptoms are noticed by a doctor, a clinical examination or genetic testing can diagnose Bardet-Biedl syndrome. No cure for this syndrome currently exists, but there are treatments that can help to treat symptoms. Surgery can help to correct webbing of the fingers or toes and extra digits, and lifestyle changes can help to manage obesity. For other symptoms, healthcare professionals recommend finding a specialist to monitor and manage them.
About Neuringer’s Research
Martha Neuringer has discovered three rhesus macaques that have the mutated gene for Bardet-Biedl syndrome. Neuringer’s colleagues, OHSU nonhuman primate genetics experts Betsy Ferguson, Ph.D., and Samuel Peterson, Ph.D., are working to code the genomes of 2,000 rhesus macaques. Through their research they can discover more about the mutated gene and how the symptoms progress in the monkeys. As they are working on breeding more monkeys with the syndrome, they hope to use them to discover potential treatments for not only Bardet-Biedl syndrome but for other retinal degenerative diseases as well.
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