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精神科基因组学:最新进展与议程

Psychiatric Genomics: An Update and an Agenda.

作者信息

Sullivan Patrick F, Agrawal Arpana, Bulik Cynthia M, Andreassen Ole A, Børglum Anders D, Breen Gerome, Cichon Sven, Edenberg Howard J, Faraone Stephen V, Gelernter Joel, Mathews Carol A, Nievergelt Caroline M, Smoller Jordan W, O'Donovan Michael C

机构信息

From the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Departments of Genetics, Psychiatry, and Nutrition, University of North Carolina, Chapel Hill, N.C.; the Department of Psychiatry, Washington University School of Medicine, St Louis; the Norwegian Centre for Mental Disorders Research (NORMENT), K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Oslo and Oslo University Hospital, Oslo; the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Aarhus, Denmark; the Center for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark; the Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark; the Institute of Psychiatry, Psychology and Neuroscience, MRC Social, Genetic and Developmental Psychiatry Centre, King's College London, London; the National Institute for Health Research Biomedical Research Centre, South London and Maudsley National Health Service Trust, London; the Division of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland; the Institute of Human Genetics, University of Bonn, Bonn, Germany; the Department of Genomics, Life and Brain Center, Bonn, Germany; the Institute of Neuroscience and Medicine, Juelich, Germany; the Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis; the Departments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, N.Y.; the Department of Psychiatry, Yale University, New Haven, Conn.; the Department of Psychiatry and the Genetics Institute, University of Florida, Gainesville; the Department of Psychiatry, University of California-San Diego, La Jolla, Calif., the Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and the Department of Psychiatry, Massachusetts General Hospital, Boston; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; and the MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, U.K.

出版信息

Am J Psychiatry. 2018 Jan 1;175(1):15-27. doi: 10.1176/appi.ajp.2017.17030283. Epub 2017 Oct 3.

DOI:10.1176/appi.ajp.2017.17030283
PMID:28969442
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5756100/
Abstract

The Psychiatric Genomics Consortium (PGC) is the largest consortium in the history of psychiatry. This global effort is dedicated to rapid progress and open science, and in the past decade it has delivered an increasing flow of new knowledge about the fundamental basis of common psychiatric disorders. The PGC has recently commenced a program of research designed to deliver "actionable" findings-genomic results that 1) reveal fundamental biology, 2) inform clinical practice, and 3) deliver new therapeutic targets. The central idea of the PGC is to convert the family history risk factor into biologically, clinically, and therapeutically meaningful insights. The emerging findings suggest that we are entering a phase of accelerated genetic discovery for multiple psychiatric disorders. These findings are likely to elucidate the genetic portions of these truly complex traits, and this knowledge can then be mined for its relevance for improved therapeutics and its impact on psychiatric practice within a precision medicine framework. [AJP at 175: Remembering Our Past As We Envision Our Future November 1946: The Genetic Theory of Schizophrenia Franz Kallmann's influential twin study of schizophrenia in 691 twin pairs was the largest in the field for nearly four decades. (Am J Psychiatry 1946; 103:309-322 )].

摘要

精神疾病基因组学联盟(PGC)是精神病学史上最大的联盟。这项全球合作致力于快速取得进展并推动开放科学,在过去十年中,它带来了越来越多关于常见精神疾病基础的新知识。PGC最近启动了一项研究计划,旨在得出“可应用的”研究结果——基因组结果要能够:1)揭示基础生物学原理;2)为临床实践提供信息;3)提供新的治疗靶点。PGC的核心思想是将家族病史风险因素转化为具有生物学、临床和治疗意义的见解。新出现的研究结果表明,我们正进入一个多种精神疾病加速基因发现的阶段。这些发现可能会阐明这些真正复杂性状的遗传部分,然后可以挖掘这些知识,以了解其在改善治疗方面的相关性及其在精准医学框架内对精神科实践的影响。[《美国精神病学杂志》175卷:展望未来时铭记过去 1946年11月:精神分裂症的遗传理论 弗朗茨·卡尔曼对691对双胞胎进行的具有影响力的精神分裂症双胞胎研究在近四十年里是该领域规模最大的。(《美国精神病学杂志》1946年;103卷:309 - 322页)]

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/408f97084555/nihms888920f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/fcd4a78af966/nihms888920f1.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/3124b6762349/nihms888920f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/408f97084555/nihms888920f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/fcd4a78af966/nihms888920f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/47276a871a44/nihms888920f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/3124b6762349/nihms888920f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4637/5756100/408f97084555/nihms888920f4.jpg

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