Researchers at the University of Utah hope to use their extensive Utah population database — and community help — to locate a gene that may be responsible for inherited brain aneurysm.
An intracranial aneurysm is the weakening of a vessel wall in the brain that balloons out. If it bursts, it causes bleeding in the brain, and 5 percent to 10 percent of the people die immediately. From 50 percent to 60 percent of those who survive have lifelong disabilities, according to Lisa Cannon Albright, a professor in the department of Medical Informatics in the School of Medicine.
It has been known for decades that there's a familial predisposition to develop the aneurysm. And because the U. has a powerful database that allow researchers to identify from death certificate and genealogy records families that might have that tendency, they are hoping to study members of those families to see if they can find the genetic location of that predisposition.
The study is being done by a research group in genetic epidemiology, collaborating with the departments of neurosurgery and radiology.
They are asking people who had two or more relatives who died from a brain aneurysm to provide a small blood sample and answer a family and medical history questionnaire. Those who participate will receive a free aneurysm-screening test called a Magnetic Resonance Angiogram.
Many people have brain aneurysms and don't know it. If those people can be identified, the vessel can be prevented from rupturing by putting in a clip to seal off the "balloon." If the MRA indicates the presence of an aneurysm, the participant would be directed to clinical care, Cannon Albright said.
Besides locating the gene that leads to the predisposition to brain aneurysm, the researchers hope to refine an imaging technique that would "allow us to spot aneurysms, even if they're little, with pretty good accuracy, without doing anything invasive," she said.
The U.'s radiology department has created special magnetic coils that can evaluate an image. With it, "we're finding quite small aneurysms," she said.
Participation in the study should take about an hour.
The study, including the cost of what would normally be a $1,200 diagnostic MRA, is paid for by a National Institutes of Health grant.
"We are hoping if we study enough families, we will have powerful enough resources to do a genomic search," Cannon Albright said.
The NIH grant is for four years. While discoveries sometimes come quickly, the slow part of the process if finding enough high-risk families to make it happen, she said.
For more information on the study, call 1-877-893-4363 or visit the Web site, www.genepi.med.utah.edu.
E-MAIL: lois@desnews.com