Semin Neurol 2016; 36(03): 298-305
DOI: 10.1055/s-0036-1582134
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetic Determinants of Risk, Severity, and Outcome in Intracerebral Hemorrhage

Guido J. Falcone
1   Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts
2   Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts
3   Department of Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts
,
Jonathan Rosand
1   Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts
2   Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts
3   Department of Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts
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Publikationsdatum:
23. Mai 2016 (online)

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Abstract

Spontaneous, nontraumatic intracerebral hemorrhage (ICH) is the most severe manifestation of common forms of cerebral small vessel disease. Although ICH represents only 15% of all strokes, it accounts for a large proportion of stroke-related costs and mortality. Preventive and acute treatments remain limited. Because genetic variation contributes substantially to ICH, genomic analyses constitute a powerful tool to identify new biological mechanisms involved in its occurrence. Through translational research efforts, these newly identified mechanisms can become targets for innovative therapeutic interventions. Here, the authors summarize the most recent genetic discoveries for ICH. They also introduce the Platform for Accelerating Genetic Discovery for Cerebrovascular Disease, a newly created resource that aims to create a common workspace for genetic analyses that will bring together 100,000 stroke cases and suitable controls from numerous institutions in several countries.