Dianna M. Milewicz, M.D., Ph.D., the director of the Graduate School's M.D./Ph.D. Program, received the American Heart Association’s $1 million Merit Award to investigate the genetics related to life-threatening strokes suffered by thousands of children every year.
Two awards are annually given to scientists whose research has a high likelihood of advancing cardiovascular and stroke science. The other 2019 recipient is Jeffery D. Molkentin, Ph.D., University of Cincinnati.
A stroke can occur when blood flow in a cerebral artery is blocked. Although stroke typically affects older individuals with high blood pressure, stroke is among the top 10 causes of death among children and has been linked to genetic mutations.
Milewicz’s team has identified a gene associated with a heightened risk of stroke (ACTA2) and is working to address its stroke-causing mutations.
“We are confident that the proposed studies will provide new knowledge on the molecular and cellular factors that contribute to the molecular pathogenesis of strokes due to blockage of the arteries in the brain,” Milewicz said.
ACTA2 mutations are found in some children with a rare, progressive cerebrovascular disordercalled Moyamoya disease (MMD). Moyamoya means “puff of smoke” in Japanese and researchers use the term to describe the tiny vessels that sprout up to compensate for the blockage of large arteries in the brain.
“Currently there is a limited understanding of the molecular mechanisms underlying MMD,” she said.
With the AHA award, her team plans to replicate the cells of patients with ACTA2 mutations and study them in an ACTA2-based mouse model of MMD.
Milewicz said she wants to find out if the mutations block the development of the cells that keep the arteries in the brain open. If so, she will then look at ways to correct the mutations.
The American Heart Association award supports individual scientists with a trajectory of success who propose novel approaches to major research challenges in the areas of cardiovascular disease and stroke that have the potential to produce unusually high impact.
Milewicz is also the vice chair of internal medicine at McGovern Medical School.