It was an honour for Children’s Medical Research Institute to recently host a family day as part of Rett Syndrome Month, to highlight all the work being done into this challenging neurodevelopmental condition by both scientists and parents.

Rett Syndrome impacts mainly girls and involves a slowing of development as the children age. This includes seizures, cognitive problems, slowed brain growth and loss of mobility.

Associate Professor Wendy Gold is head of the Molecular Neurobiology Unit which is a partnership between CMRI and Kids Research. She is also a world leader in Rett Syndrome, having devoted nearly a decade to studying the mechanisms of this genetic disease.

Associate Professor Gold and her team spoke to families about their latest advancements, including hopes for gene therapy.

Brett Anslow, whose daughter Holly lives with Rett Syndrome, is a major fundraiser for Associate Professor Gold’s work. He thanked the researchers for their tireless efforts.

“We were pretty sad when Holly was diagnosed, and we were told there was only a 10% chance of her living past age 10 – it was just heart breaking,’’ Mr Anslow said. “It felt like a terminal diagnosis. Now she’s 10, and there is such much amazing work happening, but we are aware that the research needs more money.’’

Supported by the Rett community’s efforts, Associate Professor Gold has won over $2.5m for Rett research over the last decade; but with much more work to be done, Mr Anslow said he was determined to continue the fight.