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个人简介

I am Professor of Psychological Medicne (Psychiatry) in the School of Medicine. I am Head of the Division of Psychological Medicine and Clinical Neuroscience and Director of the MRC Centre for Neuropsychaitric Genetics and Genomics. I am also Emeritus Director of the Neuroscience and Mental Health Research Institute. I have worked on the genetics of psychiatric and neurodegenerative disorders for over 20 years and bring to the Research Institute extensive research expertise in the genetic aspects of schizophrenia, bipolar disorder, Alzheimer's disease, Attention Deficit Hyperactivity Disorder (ADHD), and Dyslexia. I have published over 500 scientific papers and working alongside colleagues in Cardiff have identified novel genetic risk factors for a number of disorders. My most recent research activities have focused on the translation of genetic findings into benefit for patients though research on disease mechanisms, classification and diagnosis as well as in public engagement and communication.In addition to my research activities, I continue to work as a consultant in General Adult Psychiatry. I have previously been President of the International Society of Psychiatric Genetics and a member of the Council of the Academy of Medical Sciences to which I have recently been re-elected.

研究领域

My work uses a combination of molecular genetic approaches including genome-wide association, copy number variant analysis and second generation sequencing to identify the specific genetic variants that confer risk to psychiatric and neurodegenerative disorders. I am increasingly interested in the impact of genetic discoveries on the understanding of disease mechanisms and classification. My genetics work has implicated specific sets of postsynaptic proteins in psychiatric disorders particularly schizophrenia but also autism and intellectual disability. I am PI of the DEFINE programme (funded by a Wellcome Trust Strategic Award) which aims to understand how mutations in the genes encoding postsynaptic proteins impact brain function and behavior using a combination of human brain imaging, animal models and stem cell research.

近期论文

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Clifton, N.et al. 2017. Schizophrenia copy number variants and associative learning. Molecular Psychiatry 22(2), pp. 178-182. (10.1038/mp.2016.227) pdf Cosgrove, D.et al. 2017. MiR-137-derived polygenic risk: effects on cognitive performance in patients with schizophrenia and controls. Translational Psychiatry 7(1), pp. e1012. (10.1038/tp.2016.286) pdf Sims, R.et al. 2017. Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics pdf Rees, E.et al. 2016. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73(9), pp. 963-969. (10.1001/jamapsychiatry.2016.1831) Mooney, M.et al. 2016. Pathway analysis in attention deficit hyperactivity disorder: an ensemble approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171(6), pp. 815-826. (10.1002/ajmg.b.32446) Thapar, A.et al. 2016. Psychiatric gene discoveries shape evidence on ADHD's biology. Molecular Psychiatry 21(9), pp. 1202-1207. (10.1038/mp.2015.163) pdf Pardinas, A.et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. bioRxiv (10.1101/068593) pdf Tansey, K.et al. 2016. Common alleles contribute to schizophrenia in CNV carriers. Molecular Psychiatry 21(8), pp. 1085-1089. (10.1038/mp.2015.143) pdf Legge, S.et al. 2016. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry (10.1038/mp.2016.97) pdf Millan, M.et al. 2016. Altering the course of schizophrenia: progress and perspectives. Nature Reviews Drug Discovery 18(7), pp. 485-515. (10.1038/nrd.2016.28) Legge, S.et al. 2016. Reasons for discontinuing clozapine: a cohort study of patients commencing treatment. Schizophrenia Research (10.1016/j.schres.2016.05.002) pdf

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