研究概况:约翰W. 科尔,米.D.
![约翰W. 科尔](/-/media/Images/Professional/Institute/johncole.jpg?h=300&w=300)
He does similar work today in the human brain. 作为一名血管神经科医生. 科尔 tries to disarm blood clots that cause strokes. His aim is to save stroke patients’ lives and prevent stroke-related disability.
While many stroke patients who come in soon after stroke symptoms start have good prognosis, those who wait to be treated or don’t recognize stroke symptoms often suffer from long-term disability or death.
然而,还有另一个方面. 科尔’s job that he considers just as important as treating stroke patients, namely stroke prevention. “Part of my drive is to figure out ways to prevent stroke because it’s such a devastating illness,”医生说。. 科尔, an associate professor of neurology at the Maryland Stroke Center, Baltimore VA Medical Center and University of Maryland School of Medicine.
Through a grant from the 美国心脏协会’s (AHA) Institute for Precision Cardiovascular Medicine, he conducts research through the AHA Precision Medicine Platform to better understand how having certain genetic variants might make some people more prone to stroke.
“Genetics play a role in stroke for sure,” Dr. 科尔说,. “The question is how do genetic variants interplay with each individual? Is it based on their risk factor profile, which can include smoking or high blood pressure, that certain genetic causes have a higher effect?”
其中一个大型数据集. 科尔 and colleagues are using to conduct their research is one they’ve compiled of 1,000 young stroke patients—younger than 49. For comparison, that dataset includes a similar group of 1,000 people who have not had stroke.
“如果你很年轻,中风了, there is probably a greater propensity for genetic drivers,他说.
Dr. 科尔’s most recent grant from the Institute focuses on a stroke type caused by small vessel disease, which accounts for 20% to 25% of strokes and is a leading cause of disability.
Using the power of precision medicine, Dr. 科尔 and colleagues ran genetic panels on all 2,000人在年轻的数据集中, looking at genetic variants throughout each individual’s genome.
“We’re looking to see if there’s a higher incidence of certain genetic variants in stroke cases and have been able to tease out some genetic risks using our young-onset stroke model, which we’re presenting early next year at the AHA’s International Stroke Conference ,” Dr. 科尔说,. “The next step is to determine how these genetic variants increase risk. This could be due to an interplay between standard risk factors such as hypertension or diabetes, or through inflammation or increased clotting, 或者我们还没有考虑的途径.”
His ultimate goal is to tailor-make prevention strategies based on an individual’s genetics to reduce stroke risk.
美国心脏协会的研究所正在帮助培养. 科尔’s and other researchers’ work by pooling large datasets and making them accessible.
“这是你必须做的关键事情之一, 尤其是在遗传学研究方面, is once you’ve found something you need to be able to replicate it,” Dr. 科尔说,. The AHA’s Precision Medicine Platform also facilitates such replication studies. Once replicated, researchers’ discoveries can be put into practice—in the case of Dr. 科尔预防中风的研究.