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Logo of nihpaAbout Author manuscriptsSubmit a manuscriptHHS Public Access; Author Manuscript; Accepted for publication in peer reviewed journal;
Stroke. Author manuscript; available in PMC 2017 April 1.
Published in final edited form as:
PMCID: PMC4919662

International Stroke Genetics Consortium Update

Miriam R. Raffeld, BA,1 Stephanie Debette, MD, PhD,2 and Daniel Woo, MD, MS3

Created in April 2007, the International Stroke Genetics Consortium (ISGC) has grown into the 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 world-wide1, with 15 million people suffering a stroke per year1. Intracerebral hemorrhage (ICH), which makes up 15% of all stroke in the USA2, results in a 50% rate of severe disability or death3,4. While the major cerebrovascular risk factors of hypertension, cardiac disease, diabetes and the influence of hyperlipidemia have been well established, a substantial portion of stroke is not explained by these risk factors alone and biologic susceptibility to known risk factors remains to be discovered. The ISGC has been at the fore-front 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 1), 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 ICH, 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 1
ISGC Founding Principles

Collaboration is the cornerstone of the ISGC, as we continue to increase the number of samples available for research to uncover the genetics underlying stroke. The ISGC has grown substantially over the years, and now encompasses over 250 members from 6 continents, spanning over 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 datasets, and identification of ischemic and hemorrhagic stroke susceptibility loci. See for current workshops, all publications, and news from the ISGC.

Education is another important aspect of the ISGC. The ISGC holds bi-annual workshops with our most recent workshop in Barcelona, Spain and we are looking forward to our 19th workshop April, 2016 in Cambridge, MA, USA. The 20th workshop will be held in Milan, Italy on November 3–4th, 2016. The workshops allow for collaborators to come together and discuss cutting-edge topics in stroke genetics and ongoing ISGC projects. Additionally, every year the ISGC awards a travel scholarship to allow one 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 28–29th 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 (ude.cU@oow.leinad), Chair of the Steering Committee.


Funding Sources

Wellcome Trust awards, The National Institute of Neurological Diseases and Stroke (NINDS) awards, The National Institutes of Health (NIH)




Literature Cited

1. Mozaffarian D, Benjamin EJ, Go AS, Arnett D, Blaha MJ, Cushman M, et al. Heart disease and stroke statistics–2015 update: a report from the American Heart Association. Circulation. 2015;131:e29–322. [PubMed]
2. Qureshi AI, Tuhrim S, Broderick JP, Batjer HH, Hondo H, Hanley DF. Spontaneous intracerebral hemorrhage. N Engl J Med. 2001;344:1450–60. [PubMed]
3. Broderick J, Connolly S, Feldmann E, Hanley D, Kase C, Krieger D, et al. 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:e391–413. [PubMed]
4. 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;164:880–4. [PubMed]