Researchers at Cincinnati Children’s will play a lead role in a national effort to identify the genetic factors behind pediatric cardiomyopathy.
The four-year project, led by the University of Miami Miller School of Medicine, seeks to collect complete genetic profiles of 600 pediatric patients with cardiomyopathy. Cincinnati Children’s is one of 11 clinical centers involved and will serve as the project’s genetics coordinating center.
Cardiomyopathy is one of the leading causes of heart failure, death and heart transplantation in children. The condition affects one of about every 50,000 children.
“Some patients live a full life expectancy after symptomatic presentation. Others do well with medical management, and still others progress to transplantation right away,” says principal investigator Steven Lipshultz, MD. “So what is the difference? Do the affected children with bad outcomes have clusters of gene mutations?”
The Heart Institute at Cincinnati Children’s will receive about $1.5 million a year from the National Heart Lung and Blood Institute for its role. Stephanie Ware, MD, PhD, will serve as site principal investigator and direct the genetics coordinating center. Jeffrey Towbin, MD, executive co-director of the Heart Institute, will serve as co-site principal investigator.
Cincinnati Children’s was selected for its experience with exome sequencing, the most cutting edge approach to understanding genetic causation.
“The study has two main goals: to identify new genetic causes of cardiomyopathy and to identify genetic modifiers in children for whom we already know the genetic cause,” Ware says. “Cardiomyopathy is highly heritable. We are very interested in trying to identify why two people from the same family can share the same genetic cause, yet have significantly different outcomes.”
If researchers can find the genetic modifiers that cause such differences, those could become ideal targets for improved therapies, Ware says.