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UCL Great Ormond Street Institute of Child Health

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Neurogenetics

The Neurogenetics Group(P.I. Dr Manju Kurian) focuses on the investigation of childhood neurological disorders, namely elucidating underlying aetiology and disease mechanisms causing such disorders, Our long term aim is to develop novel therapeutic strategies for such intractable, pharmacoresistant conditions. We work on a wide range of disorders including different forms of epilepsy (early infantile onset epileptic encephalopathy, Landau-Kleffner syndrome) movement disorders (dystonia and other hyperkinetic disorders, paroxysmal movement disorders, parkinsonism) and neurodegenerative conditions, such as NBIA (Neurodegeneration with Brain Iron Accumulation). In our laboratory we undertake molecular genetic analysis for novel gene discovery and use cell models (including patient derived induced pluripotent stem cells) to investigate disease pathophysiology.  We have strong local collaborations with the Institute of Neurology (Professor Dimitiri Kullmann, Dr Stephanie Schorge, Professor Henry Houlden), Institute for Women's Health Dr Simon Waddington), School of Pharmacy (Professor Rob Harvey, Dr Arnaud Ruiz, Dr Ahad Rahim), and Birkbeck College (Dr Maya Topf), with whom we undertake electrophysiological characterisation, gene therapy strategies, high throughput drug screening and homology modelling studies.