colejohnheadsmall (3)Editor’s Note: This is the second in a series of stories explaining how the scientific research underway in the Cardiovascular Genome-Phenome Study can save and improve lives.

You might think of stroke as a plumbing problem of the brain — a serious one. Stroke is the No. 5 cause of death and a leading cause of long-term disability in the United States. But the genetic basis of ischemic stroke — when a blood vessel to the brain become narrowed or clogged with fatty deposits called plaques or a clot, cutting off blood flow to brain cells — remains mostly a mystery.

John W. Cole, M.D., associate professor of Neurology at the University of Maryland School of Medicine and staff physician at the Baltimore VA Medical Center, and his team are looking for the genetic variants that cause ischemic stroke for men and women across all ethnicities.

Understanding the genetic reasons behind strokes will help speed ways to prevent and treat this “brain-specific plumbing problem,” Cole said.

His work is part of the American Heart Association’s Cardiovascular Genome-Phenome Study. CVGPS researchers use massive volumes of data from major studies, with the goal of speeding discovery of more personalized treatments and prevention for heart disease and stroke, the leading causes of death worldwide.

Cole talked recently with AHA News about his research.

What is the “plumbing problem” you are trying to fix? “If your home had a blocked pipe or a ruptured pipe, you would deal with it. But wouldn’t it be better to prevent the plumbing problem from happening in the first place?

Vascular disease is really a disease of your body’s plumbing system. The heart is the pump, the vessels are the pipes and the blood fills the system. A blocked vessel in the heart causes a heart attack, while a blocked or burst vessel in the brain causes a stroke.”

How will the study work, and what’s exciting about your potential findings? “Using the massive data set that we are creating, we can evaluate specific groups to determine how certain genetic factors might influence their stroke risk. For example, we’ll evaluate the genetic associations as mediated through risk factors, such as patients with or without hypertension (high blood pressure), or those who smoke compared to those who don’t.

We will first study young individuals with stroke and then see if these findings relate to the more common older-onset form of the disease. We believe that younger stroke patients are enriched for genetic variants that cause stroke. We hope this fact will make it easier to identify the genes and variants that cause stroke across all ages. We think identifying such genetic variants will implicate new therapeutic targets for stroke prevention, treatment and recovery.”

What should everyone know about stroke? “Simply put, injuring your brain is never a good thing. If a part of the brain develops a stroke, it quickly does not work correctly. Whatever that portion of the brain is responsible for doing in day-to-day life, you suddenly can’t do that — like seeing, feeling, walking, talking or moving an arm or leg.

When ischemic (blocked artery) strokes occur, they often don’t hurt, but they make the patient not able to do something. On the other hand, with hemorrhagic (bleeding) strokes, one more often develops severe and sudden-onset headaches and also cannot do something. In both cases, if you’re suddenly unable to do something, think stroke — and call 911!”

Read about the other studies in this series.