Профессор Manju Kurian
Обзор
Professor Manju Kurian is an academic paediatric neurologist who has worked at Great Ormond Street Hospital (GOSH) since March 2011. She is affiliated with Developmental Neurosciences at the UCL Great Ormond Street Institute of Child Health and is a Professor of Neurogenetics.
Professor Kurian’s clinical areas of interest include movement disorders, neurometabolic syndromes and childhood neurodegeneration. Her current research focuses on gene discovery for childhood neurological disorders, including neurodegeneration with brain iron accumulation (NBIA) and other motor disorders such as dystonia and parkinsonism. Her laboratory uses a range of models, including patient-derived induced pluripotent stem cells, to investigate the underlying pathological mechanisms of disease and to develop novel precision therapies with the aim of progressing them to clinical trials.
Professor Kurian’s long-term goal is to translate her research into patient benefit through improved clinical diagnosis and more 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 advance novel therapeutic options. The long-term goal is to improve quality of life and reduce disease burden for patients with neurological disorders."
Квалификация и достижения
• 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
Новости и публикации
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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Профессор Manju Kurian и его контакты
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- Тел.:: +44 (0)20 3965 9900
- Fax: +44 (0)20 7762 6743
- Email: privateinfo@gosh.nhs.uk
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