World-first discoveries that could revolutionise treatment options for kids with rare genetic neurodevelopmental disorders.

Funding from Luminesce Alliance is driving world-first discoveries that could revolutionise treatment options for kids with rare genetic neurodevelopmental disorders.

Associate Professor Wendy Gold and her team have made an exciting discovery of two promising new biomarkers for the rare genetic disorder Rett Syndrome.

Biomarkers are essentially molecules such as genes or proteins in the body that can be measured to show whether someone has a disease, and whether treatment is working. It means doctors will one day be able to monitor Rett Syndrome in children by taking blood samples, which is simpler and less invasive than current diagnostic methodologies.

This work has gained international attention. It establishes NSW as having world-leading expertise and infrastructure in genetic research and is likely to attract more clinical trials to NSW, says A/Prof Gold.

‘There are more than 7,000 rare disorders and less than 5% of them have an FDA-approved drug that can help.

‘I want to create a pipeline where we can take patients’ blood and look for biomarkers. That will mean the success of clinical trials will be that much higher because there’s a primary endpoint. We’ll be able to show a certain molecule has changed after treatment, which will provide support evidence to the FDA that the drug works.’

The research involves analysing combined ‘omic’ data to understand the complex interactions between genes, proteins and metabolites in the body, what these do to cells, and how they contribute to the disorder in children.

The approach opens the door for new ways of diagnosing disease using blood samples, for tracking how disease develops over time, and for assessing whether clinical trials have worked.

A/Prof Gold says the work would not be possible without Luminesce Alliance funding, which provides access to expertise and infrastructure across five Luminesce Alliance Enabling Platforms at a fraction of the normal price.
Initial funding from Luminesce Alliance was leveraged into a Medical Research Future Fund grant to look for biomarkers in brain organoids from Rett syndrome patients. The Luminesce Alliance Functional Genomics Enabling Platform has allowed the team to expand its work beyond Rett syndrome to include STXBP1 and other rare diseases.

‘It’s extremely difficult to get funding to study rare genetic diseases in children. I wouldn’t have been able to do a fraction of what I’m doing now without Luminesce Alliance support,’ A/Prof Gold says.
‘Access to the enabling platforms is not just a resource, it’s not just infrastructure, it’s not just expertise. It’s that broad professional network that’s enabled us to be so much more productive and to be able to tap into resources that we didn’t know we needed.’

A/Prof Wendy Gold is an academic in the Faculty of Medicine and Health, School of Medical Sciences, The University of Sydney; is Head of the Molecular Neurobiology Research Group, Kids Neuroscience Centre, Sydney Children’s Hospitals Network and is an Adjunct Research Scientist with the Children’s Medical Research Institute.

To find out more and to access the Functional Genomics Platform resources visit Luminesce Alliance Functional Genomics current research pipeline.