International Stroke Genetics Consortium Update
2016; Lippincott Williams & Wilkins; Volume: 47; Issue: 4 Linguagem: Inglês
10.1161/strokeaha.116.012682
ISSN1524-4628
AutoresMiriam R. Raffeld, Stéphanie Debette, Daniel Woo,
Tópico(s)Nuclear Receptors and Signaling
ResumoHomeStrokeVol. 47, No. 4International Stroke Genetics Consortium Update Free AccessResearch ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessResearch ArticlePDF/EPUBInternational Stroke Genetics Consortium Update Miriam R. Raffeld, BA, Stephanie Debette, MD, PhD and Daniel Woo, MD, MS Miriam R. RaffeldMiriam R. Raffeld From the Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital, Boston (M.R.R.); Department of Neurology, Lariboisière Hospital, Paris 7 University, DHU Neurovasc Sorbonne Paris Cité, Paris, France (S.D.); Inserm U897, Bordeaux University, Talence, France (S.D.); and Department of Neurology, University of Cincinnati Medical Center, OH (D.W.). , Stephanie DebetteStephanie Debette From the Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital, Boston (M.R.R.); Department of Neurology, Lariboisière Hospital, Paris 7 University, DHU Neurovasc Sorbonne Paris Cité, Paris, France (S.D.); Inserm U897, Bordeaux University, Talence, France (S.D.); and Department of Neurology, University of Cincinnati Medical Center, OH (D.W.). and Daniel WooDaniel Woo From the Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital, Boston (M.R.R.); Department of Neurology, Lariboisière Hospital, Paris 7 University, DHU Neurovasc Sorbonne Paris Cité, Paris, France (S.D.); Inserm U897, Bordeaux University, Talence, France (S.D.); and Department of Neurology, University of Cincinnati Medical Center, OH (D.W.). Originally published23 Feb 2016https://doi.org/10.1161/STROKEAHA.116.012682Stroke. 2016;47:1144–1145Other version(s) of this articleYou are viewing the most recent version of this article. Previous versions: January 1, 2016: Previous Version 1 Created in April 2007, the International Stroke Genetics Consortium (ISGC) has grown into scientific community's global organizing force for stroke genetics, open to all who can contribute to its mission. Stroke is a leading cause of death worldwide,1 with 15 million people suffering a stroke per year.1 Intracerebral hemorrhage, which makes up 15% of all stroke in the United States,2 results in a 50% rate of severe disability or death.3,4 Although the major cerebrovascular risk factors of hypertension, cardiac disease, diabetes mellitus, and the influence of hyperlipidemia have been well established, a substantial portion of stroke is not explained by these risk factors alone and biological susceptibility to known risk factors remains to be discovered. The ISGC has been at the forefront of genetic discovery to understand the mechanisms behind stroke. Formed with the principal value that collaboration and coordinated effort will produce the highest quality results in the most efficient manner (Table), the ISGC has developed other major stroke collaborations, including the METASTROKE consortium and the SiGN Consortium, and partnered with the CHARGE consortium. The ISGC has identified 8 loci associated with ischemic stroke, 6 loci associated with intracerebral hemorrhage, 5 loci associated with intracranial aneurysm, and 1 locus associated with cervical artery dissection in collaboration with the CADISP consortium. Each of these findings was genome-wide significant with replication in an independent sample.Table. ISGC Founding PrinciplesCerebrovascular disease is a complex disorder influenced by variation in many genetic and nongenetic exposures, each of which contributes only a small influence to disease risk. Therefore, large (larger than any single center can assemble on its own) well-characterized sample sets will be necessary to discover these exposures.ISGC principles of collaboration. The ISGC is open to all who can contribute. All contributions are fairly recognized in publications. We work together in a spirit of cooperation and open communication to promote the best science in the present and the best science in the future.ISGC indicates International Stroke Genetics Consortium.Collaboration is the cornerstone of the ISGC because we continue to increase the number of samples available for research to uncover the genetics underlying stroke. The ISGC has grown substantially during the years, and now encompasses >250 members from 6 continents, spanning >50 countries. With the enormous growth of the ISGC, we are excited to announce the ISGC's Platform for Accelerating Genetic Discovery in Cerebrovascular Disease, which was awarded funding earlier this year. This platform will enable investigators around the world to access ISGC data, both summary and individual level data, and have access to, as well as contribute, samples all in a manner consistent with the informed consent provided by participating research subjects.Through collaboration, the ISGC has published a total of 52 articles, including guidelines for collecting biological samples and standardizing phenotype data to create harmonious data sets, and identification of ischemic and hemorrhagic stroke susceptibility loci. See www.strokegenetics.org for current workshops, all publications, and news from the ISGC.Education is another important aspect of the ISGC. The ISGC holds biannual workshops with our most recent workshop in Barcelona, Spain and we are looking forward to our 19th workshop on April, 2016 in Cambridge, MA. The 20th workshop will be held in Milan, Italy on November 3 and 4, 2016. The workshops allow for collaborators to come together and discuss cutting-edge topics in stroke genetics and ongoing ISGC projects. In addition, every year the ISGC awards a travel scholarship to allow 1 junior researcher to attend the workshop. This year we were pleased to award the scholarship to Stacie Demel, DO, PhD from the University of Cincinnati.We are excited for another productive year that includes the launch of the Platform for Accelerating Genetic Discovery in Cerebrovascular Disease and the upcoming workshop on April 28th and 29th at the Broad Institute of MIT and Harvard, hosted jointly with Massachusetts General Hospital and Harvard Medical School. The ISGC welcomes all with the skills and commitment to contribute to our efforts. Those interested in becoming a member or who seek more information about the consortium should contact Daniel Woo, MD ([email protected]), Chair of the Steering Committee.Sources of FundingThis work was funded by Wellcome Trust awards, The National Institute of Neurological Diseases and Stroke awards, and The National Institutes of Health.DisclosuresNone.FootnotesCorrespondence to Daniel Woo, MD, MS, Department of Neurology, University of Cincinnati Medical Center, 222 Piedmont Ave, No. 3200, Cincinnati, OH 45219. Email [email protected]References1. Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M, et alAmerican Heart Association Statistics Committee and Stroke Statistics Subcommittee. Heart disease and stroke statistics–2015 update: a report from the American Heart Association.Circulation. 2015; 131:e29–e322. doi: 10.1161/CIR.0000000000000152.LinkGoogle Scholar2. Qureshi AI, Tuhrim S, Broderick JP, Batjer HH, Hondo H, Hanley DF.Spontaneous intracerebral hemorrhage.N Engl J Med. 2001; 344:1450–1460. doi: 10.1056/NEJM200105103441907.CrossrefMedlineGoogle Scholar3. Broderick J, Connolly S, Feldmann E, Hanley D, Kase C, Krieger D, et alAmerican Heart Association/American Stroke Association Stroke Council; American Heart Association/American Stroke Association High Blood Pressure Research Council; Quality of Care and Outcomes in Research Interdisciplinary Working Group. Guidelines for the management of spontaneous intracerebral hemorrhage in adults: 2007 update: a guideline from the American Heart Association/American Stroke Association Stroke Council, High Blood Pressure Research Council, and the Quality of Care and Outcomes in Research Interdisciplinary Working Group.Circulation. 2007; 116:e391–e413. doi: 10.1161/CIRCULATIONAHA.107.183689.LinkGoogle Scholar4. Rosand J, Eckman MH, Knudsen KA, Singer DE, Greenberg SM.The effect of warfarin and intensity of anticoagulation on outcome of intracerebral hemorrhage.Arch Intern Med. 2004; 164:880–884. doi: 10.1001/archinte.164.8.880.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Vadgama N, Lamont D, Hardy J, Nasir J and Lovering R (2019) Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke, Molecular and Cellular Biochemistry, 10.1007/s11010-019-03501-2, 456:1-2, (157-165), Online publication date: 1-Jun-2019. Kabir A, Ruiz C, Alvarez S and Moonis M (2018) Regression, Classification and Ensemble Machine Learning Approaches to Forecasting Clinical Outcomes in Ischemic Stroke Biomedical Engineering Systems and Technologies, 10.1007/978-3-319-94806-5_20, (376-402), . Zheng F, Zhou Y, Zeng Y, Liu T, Yang Z, Tang T, Luo J and Wang Y (2020) Proteomics Analysis of Brain Tissue in a Rat Model of Ischemic Stroke in the Acute Phase, Frontiers in Molecular Neuroscience, 10.3389/fnmol.2020.00027, 13 April 2016Vol 47, Issue 4 Advertisement Article InformationMetrics © 2016 American Heart Association, Inc.https://doi.org/10.1161/STROKEAHA.116.012682PMID: 26906919 Manuscript receivedJanuary 6, 2016Manuscript acceptedJanuary 14, 2016Originally publishedFebruary 23, 2016 KeywordsgeneticsepidemiologystrokePDF download Advertisement SubjectsCerebrovascular Disease/StrokeGeneticsIntracranial HemorrhageIschemic Stroke
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