Manju Kurian 教授
概述
Professor Manju Kurian is an academic paediatric neurologist who has worked at Great Ormond Street Hospital (GOSH) since March 2011. She is affiliated with the Neurosciences Unit at the University College London (UCL) Great Ormond Street Institute of Child Health and she is a Professor of Neurogenetics and NIHR Research Professor. Also, She is Chair of the British Paediatric Neurology Association (BPNA), Research from 2019 to 2022.
Professor Manju Kurian’s clinical areas of interest include movement disorders, neurometabolic syndromes, and childhood neurodegeneration. Her current research encompasses gene discovery for childhood neurological disorders, including early-onset epilepsy, neurodegeneration with brain iron accumulation (NBIA), and other motor disorders, such as dystonia and parkinsonism. Her lab uses a number of different models (including patient-derived induced pluripotent stem cell models) to investigate the underlying pathological basis of disease and develop novel precision therapies.
Professor Manju Kurian’s long-term goal is to translate her research for patient benefit, through improved clinical diagnosis and better personalised medicine approaches.
"I am constantly inspired by the patients and their families at the hospital. By combining my clinical practice with academic research, my aim is to improve clinical diagnosis in my area of expertise as well as to explore novel therapeutic options on a research basis. The long-term goal is to improve the experience and outlook for patients with neurological disorders."
相关资质
• Movement disorders
• Neurotransmitter diseases
• Neurogenetics
• BA - Medical Sciences Tripos from the University of Cambridge
• MBBChir - Medicine from the University of Cambridge
• MA - Social Anthropology from the University of Cambridge
• MRCPCH - Paediatrics from RCPCH, London
• PhD - Human Molecular Genetics from the University of Birmingham
• Molecular genetic investigation of: early onset epileptic encephalopat, neurodegeneration with brain iron accumulation and early onset movement disorders
• Dopamine transporter deficiency syndrome: functional characterisation and therapeutic approaches
新闻和论文发表
Baker, K., Grozeva, D., Roberts, N. Y., Raymond, F. L., Gordon, S. L., Cousin, M. A., Boyd, S. G. 2015. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. Journal of Clinical Investigation. 125 (4) pp. 1670-1678.
Meyer, E., Kurian, M. A., & Hayflick, S. J. 2015. Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. Annual review of genomics and human genetics.
Schneider, S. A., & Kurian, M. A. 2015. What the future holds for the genetic diagnosis for neurodegeneration with brain iron accumulation syndromes?. Expert opinion on orphan drugs. 3 (4), pp. 353-356.
Livingston, J. H., Crow, Y. J., Lin, J. P., Dale, R. C., Gill, D., Brogan, P., . . . Rice, G. I. 2014. A type i interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. Journal of Medical Genetics. 51 (2), pp. 76-82.
Livingston, J. H., Lin, J. P., Dale, R. C., Gill, D., Brogan, P., Munnich, A., . . . Crow, Y. J. 2014. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet. 51 (2), pp. 76-82.
Ng, J., Rahim, A., Karda, R., Buckley, S., Baruteau, J., Perocheau, D., . . . Waddington, S. 2014. Analysis of transduction profile of AAV2/9 tyrosine hydroxylase promoter in the neonatal mouse brain. Human Gene Therapy. 25 (5), A16-A17.
Peall, K. J., Morris, H. R., Lumsden, D., Hedderly, T., Lin, J. -. P., Jungbluth, H., . . . King, M. D. 2014. Benign hereditary chorea related to NKX2.1: Expansion of the genotypic and phenotypic spectrum. Developmental Medicine and Child Neurology. 56 (7), 642-648.
Peall, K. J., Lumsden, D., Kneen, R., Madhu, R., Peake, D., Gibbon, F., . . . Kurian, M. A. 2014. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol. 56 (7) pp. 642-648.
Ng, J., Kurian, M. A., & Heales, S. J. R. 2014. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders. Pediatric Drugs. 16 (4), pp. 275-291.
Ng, J., Heales, S. J., & Kurian, M. A. 2014. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders. Paediatr Drugs. 16 (4), pp. 275-291.
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