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Translating disease severity biomarkers into the clinic for Rett syndrome

Researchers around the world are desperately looking for a treatment for Rett syndrome, a severe genetic disease that causes babies to lose movement and communication. It affects one in 10,000 children, mainly girls, including 430 in Australia.

Rett syndrome is hard to diagnose and is often confused with autism or mitochondrial disease as girls with Rett syndrome have symptoms that overlap with characteristics of these disorders.

Our project is sifting through more than 700 chemicals found in the blood and urine of girls with Rett syndrome to see whether they are different from those in children without the disease.

These chemicals, called metabolites, could one day be measured in a simple test that would help doctors in their diagnosis, and test whether the disease is progressing, or treatment is working.

Our findings will be invaluable for scientists around the world who are looking for treatments for Rett syndrome, by providing a reliable measure of whether their therapy is working.

  • Two Luminesce Alliance innovation projects investigated biomarkers for Rett syndrome (Translating disease severity biomarkers into the clinic for Rett syndrome and Integrative omics: A novel approach to unravelling the complex panoramic landscape of Rett syndrome).

    Rett Syndrome is a rare, severe neurodevelopmental disorder caused by variants in the Methyl-CpG-binding protein 2 (MECP2) gene. There is a lack of a clinical biomarker that can predict disease state, disease severity, and treatment efficacy.

    The first project identified and validated potential biomarkers for Rett syndrome. The second project aimed to identify disease drivers, drug targets and clinical biomarkers that can predict disease state, disease severity, and responses to treatments.

    This provided preliminary evidence to identify potential biomarkers that may predict therapeutic efficiency in pre-clinical studies. However further research is needed, and if successful, a biomarker could be identified for clinical use, and as a primary outcome measure for clinical trials.

    As a result of these findings additional MRFF grant funding was secured to develop new treatments and therapies for Rett syndrome. With this funding ‘omic’ technologies, bioinformatic computational tools, and stem cell technologies will be used to better understand Rett syndrome, disease drivers, and biomarkers, to develop and identify targeted therapeutic strategies for the disease.

  • Lead Investigator

    • A/Professor Wendy Gold
      Head, Molecular, Neurobiology Research Group, Sydney Children’s Hospitals Network, University of Sydney

    Research Team

    • Carolyn Ellaway, Sydney Children’s Hospitals Network
    • Ashley Hertzog, Sydney Children’s Hospitals Network
    • Adviye Ayper Tolun, Sydney Children’s Hospitals Network
    • David Brown, NSW Health Pathology
    • Sam Breit, St Vincent’s Centre for Applied Medical Research (AMR)
    • Mark Graham, Children’s Medical Research Institute
    • Alexander Wykes, Children’s Medical Research Institute
    • Florencia Haase, Sydney Children’s Hospitals Network
    • Brain Gloss, Westmead Institute for Medical Research
  • Impact Report 2021
    Fishing for biomarkers for Rett syndrome

    Impact Report 2023
    Cracking the mechanisms of a devastating disorder