Large stroke genetics research project gets funding


Researchers from the University of Maryland, School of Medicine, are coordinating an international team of scientists working to identify genes or gene variants that may make a person more likely to have an ischemic stroke. Ischaemic strokes are the most common type of stroke, representing more than 80% of all cases. Stroke is a leading cause of disability and the third leading cause of death in USA.

“This multinational collaboration will be one of the largest stroke genetics research projects ever launched. Recent studies in conditions such as diabetes and lupus have shown that a large sample size, such as the one we will be using, can be vital in helping to uncover genetic influences in a complex disease, so we are eager to see what genetic variants we may find for stroke and what promise these discoveries may hold for prevention and treatment,” explained Steven Kittner, principal investigator, professor of neurology at the University of Maryland and a researcher at the Baltimore VA Medical Centre.


“Using DNA analysis of blood samples from at least 6,000 stroke patients, we will be able to interrogate more than one million genetic variants for their association with stroke. The design and size of the study increase the chance that we may find genetic variants that were previously not suspected to be linked to stroke,” said Braxton Mitchell, professor of medicine at the University of Maryland and leader of the multi-institutional team that will analyse the data.


With US$3.6 million funding from the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH), this initiative brings together 17 different research institutions: 12 in USA and five in Europe. The project, which should take about four years to complete, furthers the NIH efforts in the field of ischemic stroke genetics and genome wide association studies.


“Stroke is a challenging disease to study because it can be due to a wide variety of causes and pathological processes. One important goal for this international team will be to develop standardised, validated and easily replicated methods to identify stroke subtypes, which may account for variations in stroke occurrence, severity, complications, response to therapy and recovery,” explained Katrina Gwinn, NINDS project director.


Established risk factors, such as hypertension and cigarette smoking, are not sufficient to explain who will suffer from a stroke and who will be spared. Classifying strokes into subtypes using a standardised method will allow the researchers to drill down into the genetics that may be linked to a particular subgroup of stroke. In addition, the component elements leading to inclusion into or exclusion from each subgroup will be recorded, allowing for the future development of new approaches to classification. The information will be made public via the Database of Genotype and Phenotype (dbGaP).