Associate Professor Robyn Jamieson

meet a reseacher-Robyn

Associate Professor Robyn Jamieson leads the Eye Genetics Group. Her research focuses on diseases that cause retinal degeneration, one of the most prevalent causes of blindness, affecting approximately 1 in 3000 people, both children and adults.

“Some retinal diseases occur in childhood,” Robyn says, “while others develop in adulthood. All have a profound impact on the individual and on society, with significant attendant costs. The associated visual impairment is irreversible, currently untreatable, generally worsens with age, and frequently leads to complete blindness.

“For some cases of retinal disease, there are significant new advances in treatment, with improvement in vision reported after trials using gene therapy. In order for patients to access these potentially sight-restoring trials, and for scientists and doctors to develop new therapeutic strategies, we need to know more about the underlying genetic error in patients.”

Robyn works closely with patients at the Children’s Hospital Westmead and has already discovered 12 genes that cause retinal degeneration and other eye disorders, but she’s aware that there are many more. She now aims to identify additional genetic causes of retinal degeneration using a new technique called Next Generation Sequencing, where every gene in an individual can be sequenced at once. This research, combined with studies of how the affected genes and proteins work, will allow her to find new ways to prevent or cure blindness.

“Blindness and impaired vision are extremely disabling for many in our community. There are often limited treatment options, and many of the underlying causes are not known. My research aims to use new ways to analyse the human genome to identify genetic causes and understand how they lead to blindness.”

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