STXBP1 Australia has partnered with the University of Sydney to fund research led by Professor Wendy Gold, group leader of the Molecular Neurobiology Lab at Kids Research, Westmead Children’s Hospital. Professor Gold is Interim Deputy Associate Dean Research in the University’s Faculty of Medicine and Health.
The lab’s work is summed up in four words: from detection to correction. The team studies how genetic neurodevelopmental disorders, including STXBP1 disorders, cause disease, with the aim of developing and translating new therapies that improve the health and wellbeing of affected children.
How the research works
Using stem cells, the lab grows “cortical brain organoids”, small models of developing brain tissue, in a controlled lab setting. These models let researchers study what goes wrong in an STXBP1 disorder, and test new approaches such as gene therapies and gene-editing therapies before they reach people.
The research program 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
Professor Gold’s interdisciplinary program spans neurology, neuropathology, fundamental neuroscience, clinical chemistry and pharmacology. It brings together clinicians, chemists, scientists and bioinformaticians, working with national and international collaborators on rare and ultra-rare developmental epileptic encephalopathies.
Meet the team
Professor Wendy Gold leads the Molecular Neurobiology Lab at Kids Research and is part of the University of Sydney’s School of Medical Sciences. View her University of Sydney profile.
Working alongside the lab are:
- 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)