October is Rett syndrome Awareness Month. Rett syndrome is a severe neurological disorder affecting girls almost exclusively. It is a rare disease, meaning it affects 1 in 10,000 babies per year. Rett syndrome is mostly caused by mutations in the MECP2 gene and symptoms start to show in the first 6-18 months of life. Watch Holly’s Story.
Girls with Rett are affectionately known as ‘silent angels’ as they can’t talk. They also can’t walk unaided, they can experience repetitive hand movements, breathing problems, scoliosis, and seizures. Some of these ‘silent angels’ gain their wings too early and don’t survive.
Dr Wendy Gold and her team at Kids Neuroscience Centre are working to find a cure. This October they are donning purple lab coats to raise awareness of the importance of research for Rett syndrome. Bronte Coorey, PhD student says,
It brings me so much joy knowing that the work I am doing can help advance the research field and directly impact the lives of so many families that I don’t even know
The team are using cutting edge technology to develop a gene therapy for Rett syndrome. This therapy aims to improve the quality of life and reduce or eliminate the severe symptoms that these girls suffer from. Florencia Haase, PhD student,
We try doing our best every day in the hope that some-day we may be someone’s hero
Dr Gold and her team are working tirelessly to improve the lives of children with Rett syndrome. The fruits of their work have recently been published in the 2021 August and September editions of the International Journal of Molecular Sciences.