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Gene therapy offers hope for 1 in 10,000 girls with Rett Syndrome

8 October 2021
October marks Rett Syndrome Awareness month
University of Sydney researchers at the Children’s Medical Research Institute are leading the creation of gene therapies that could have the potential to override the effects of this devastating neurodevelopmental disorder.

October marks Rett Syndrome Awareness month and the 22nd anniversary of the discovery that a gene mutation is the main cause of this incurable and devastating neurodevelopmental disorder that occurs almost exclusively in girls.

Now, two decades on, University of Sydney researchers at the Children’s Medical Research Institute are world leaders in the creation of gene therapies increasingly moving to trials stage. 

Though girls may appear healthy at birth, symptoms begin to emerge between six and eighteen months of age, causing problems with coordination, language and movement.

Holly Onslow and her family.

Holly Anslow (bottom right) and her family.

Holly Anslow was diagnosed at three years of age. She is now seven with two siblings aged ten and twelve. Her medical schedule is relentless – on average four to five appointments a week, three therapy sessions, plus additional medical or resource appointments. She requires 24-hour supervision. 

Individuals with Rett syndrome are unable to talk, walk, self-feed, toilet, or use their hands purposefully. They often have seizures, breathing difficulties, and tracheotomies.

Sadly, girls affected by Rett rarely reach adulthood, with 15 percent losing their lives by age ten.

It is a rare disease, impacting 1 in 10,000 girls worldwide, so competes with more prevalent diseases for funding and attention. Diagnosis is purely symptomatic and due to the overlap in symptoms with other disorders, accurate diagnosis can be delayed. Approximately 400 girls across Australia are currently identified as living with Rett syndrome. 

A leading expert on Rett at the University of Sydney, Dr Wendy Gold, believes there is a chance that gene therapy could provide the desperately needed cure for Rett Syndrome.  

Gene therapy has the potential to override the effects of the disease, restoring normal function of the faulty MECP2 protein, effectively curing the patient.
Dr Wendy Gold

“Our team has recently demonstrated the efficacy of a novel gene therapy with the potential to benefit Rett syndrome individuals," said Dr Gold.

"While this is very exciting, the data is still very preliminary and further testing in the lab is required before this therapy can move towards the clinic. In addition, we have also recently demonstrated the power of using patient cells that can be converted into stem cells and how the expression of the genes in these cells can illuminate new therapeutic targets."  

Dr Gold is an academic at the University of Sydney, Children’s Medical Research Institute and Kid’s Research at the Children’s Hospital Westmead. She has devoted more than 13 years to studying the pathogenic mechanisms of Rett syndrome.

Research has been generously supported by philanthropy from the University and wider community, including $12,000 in crowdfunding since 2020. The Neil and Norma Hill Foundation has also provided $355,000 in funds for the research over the past 3 years in line with their supporting medical research projects across a range of areas that are often underfunded.  

Make a donation to support Rett Syndrome research.

Dr Wendy Gold

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