Genetic Variation and Risk of Stroke

Jonathan Rosand, MD, co-director, Henry and Allison McCance Center for Brain Health, and co-director, Mass General Neuroscience, discusses his collaborative study of stroke genetics. There are risk factors such as hypertension, atherosclerosis and cigarette smoking that influence an individual's risk for stroke, but a large proportion of the risk for any individual remains unexplained. This research focuses on identifying how genetic variation affects our risk for stroke and how those variants offers clues for new drugs that may have a broad impact on reducing stroke.

Subscribe to the latest updates from Neuroscience Advances in Motion

Thank you for subscribing!

Error: Please enter a valid email address.

Email Address Submit

Transcript

Through our collaborators, we've established the largest network here at Mass General for the study of stroke genetics. We do know that there are what we call risk factors such as hypertension or atherosclerosis or cigarette smoking that certainly influence an individual's risk for having a stroke, but a large proportion of the risk for any individual remains unexplained, and our group, along with our collaborators across the world, has focused on identifying how genetic variation affects that risk and, in fact, what we found is that there are dozens of regions across the genome, across those three billion base pairs that constitute the human genome, that there are dozens of spots where a variation can alter the risk of a stroke for a person.

We're studying these variants not only to understand how genetics leads us to develop a stroke and then to recover, but really, because we think each of those variants offers a clue to a new drug that might have a really broad impact on reducing stroke.

As we're making these genetic discoveries, we're also learning how to characterize patients more and more precisely. With sophisticated neuroimaging, with higher quality assessments of function, for example the way arm strength varies or the way thinking varies, we can now understand each stroke patient as an individual in ways that we could never do before.

Armed with that information, we can then interpret the role of these genetic variants in ways that we couldn't before. The next phase of our research is to hone down to figure out precisely how these genetic variants alter the risk of stroke or the outcome of stroke at the individual level using these neuroimaging techniques and these sophisticated examination techniques and as well, taking advantage of all the biomarkers and what we now call "omics" to really characterize what's going on in a body when a patient has a stroke. As we understand better and better the role of genetic variation and risk of stroke, we will be able to intervene earlier and earlier in our lives to help patients, to help individuals whose risk for a stroke may not be substantially elevated for another 20 years, let's say, but whom we can help to develop strategies to reduce their risk now when they're young and to protect themselves over time.

Learn more about the Henry and Allison McCance Center for Brain Health

Learn more about neurocritical care at Mass General