Keywords
Clinical Conditions
Equipment & Techniques
Science Culture
I am a paediatric neurologist with an interest in neurogenetics and developmental neurobiology. My research is motivated by the families I meet in my clinics. My lab generates information that can be used to improve the diagnosis and treatment of genetic conditions which affect brain development. We use gene editing techniques to test the function of specific genetic changes (variants) in human cells grown in vitro. We perform saturation mutagenesis and generate large-scale nucleotide-resolution maps of variant function. We apply these techniques to accelerate the diagnosis of clinically actionable genes. We work with the clinical genetics and rare condition communities to make these data accessible and usable within clinical diagnostic pathways. We are also applying these technologies to try to identify novel treatment targets for personalised advanced therapies in neurodevelopmental conditions.
