Australia takes centre stage as a cure for Rett Syndrome draws closer

GOLD COAST, Australia, Oct. 2, 2024 /PRNewswire/ -- Australian researcher Associate Professor Wendy Gold, a world leader in Rett Syndrome^[1] research from the University of Sydney, joins international colleagues and Rett families on the Gold Coast today to present the latest advances toward a cure.

Rett Syndrome, which overwhelmingly impacts girls, is a severe genetic disorder. Affecting 1 in 10,000 female babies, sufferers begin to lose their ability to walk and talk at around 18 months of age and require lifelong 24/7 care. While girls can live into their sixties, they suffer global developmental delay and often also seizures and scoliosis.

Rett Research Australia^[2] founder, Brett Anslow, whose 11-year-old daughter Holly has Rett Syndrome, said the Australian Rett community was optimistic heading into the conference, as a cure is closer than ever before.

"Rett Syndrome is a genetic disorder, so it requires gene therapy to cure it," he said. "Wendy has done some truly extraordinary work toward a cure, as have other researchers from around the world. We feel incredibly hopeful that in the very near future there may be a cure for this absolutely devastating disorder."

Associate Professor Gold said her team were well advanced on two fronts looking at ways to cure Rett Syndrome.

"The first one is a gene editing therapy, which is looking at using what we call 'molecular scissors' to be placed in the body, to cut out the mutation in the genome and replace it with a normal copy, and we've had some exciting initial success with this," she said. "The other gene therapy we have I can't say too much about because we're actually looking at protecting it and patenting it, but it is a gene therapy similar to those that are been investigated in clinical trials, but with more regulatory control."

Associate Professor Gold and her team, along with working toward a cure, are also developing a diagnostic tool. Today there is no definitive blood test for Rett Syndrome, meaning girls are only treated once symptoms appear. Armed with a diagnostic tool, doctors would be able to treat girls with Rett Syndrome as babies, with the test potentially being able to be added to the standard newborn heel-prick test.

Associate Professor Gold points out that finding a cure for Rett Syndrome would open the floodgates for cures for other genetic diseases.

"Rett Syndrome is considered the poster child in the rare disease space, and everyone's looking at Rett syndrome, watching as they start the clinical trials. Once we have a cure it'll just open up so many options for the other disorders. There are 7, 000 rare genetic disorders, so it's encouraging to see what happens in the space for Rett syndrome.

Associate Professor Gold said her team had been able to be successful due to the tireless fundraising efforts of the Rett community. "Brett and Raelene Anslow have been absolutely central to the success we have had, by raising money for us to get to a point of success where we could then apply for grants to expand and speed up our work," she said. "90% of grant applications in Australia are unsuccessful, and it is only because we have the tireless backing of the Rett community continually fundraising and co-investing in this work, that we can continue moving forward at the pace we need to."

Rett experts from Italy, the UK, Sweden, the US, the Netherlands, Canada, Israel, France, Germany, Ireland and Scotland will join Associate Professor Gold and many Rett Syndrome families on the Gold Coast from October 2^nd – 5^th. For more information about Rett Syndrome or to donate, visit www.rettresearch.org.au^[3].

References

1. ^{^} Rett Syndrome (youtu.be)
2. ^{^} Rett Research Australia (rettresearch.org.au)
3. ^{^} www.rettresearch.org.au (www.rettresearch.org.au)