STXBP1 Australia has partnered with the Children’s Medical Research Institute’s (CMRI) Molecular Neurobiology Research Group. The CMRI is an independent organisation with over 170 scientists committed to finding treatments and cures for serious conditions affecting kids. Their research focus is to develop effective treatments for rare and ultra-rare monogenic neurodevelopmental disorders, including STXBP1.
The research in these disorders centres on four pillars:
- Understanding the disease pathophysiology
- Identifying disease-specific biomarkers
- Developing novel therapeutics (gene therapies)
- Disease modelling utilising mouse models, induced pluripotent stem cell (iPSC) models, bioinformatics, AAV technologies and gene editing technologies
Their multidisciplinary research program lies at the intersection of patient clinical need, cutting-edge disease modelling and therapy development, where A/Professor Wendy Gold leads many large projects centring around rare and ultra-rare developmental epileptic encephalopathies, with national and international collaborators.
Meet the team
Associate Professor Gold is the head of the Molecular Neurobiology Laboratory at Kids Research and the University of Sydney. She is based at the Children’s Hospital at Westmead, and is an Adjunct Research Scientist in Molecular Neurobiology with CMRI.
From detection to correction: developing gene therapies for genetic neurodevelopmental disorders. Her research team is focused on studying the pathogenic mechanisms of genetic neurodevelopmental disorders, with the aim of developing and translating novel therapies and clinical applications that can improve the health and well-being of affected children.
- Dr Alexander Wykes — Post-doctoral Researcher (CMRI)
- Dr Deepak Gill — Paediatric Neurologist (The Sydney Children’s Hospital Network)
- Dr Kavitha Kothur — Paediatric Neurologist (The Sydney Children’s Hospital Network)
- Professor Frederic Meunier — Neurobiologist (Queensland Brain Institute)
- Dr Elizabeth Emma Palmer — Clinical Geneticist (The Sydney Children’s Hospital Network)