Stephanie Ware, MD, PHD

Genes and Modifiers in Pediatric Cardiomyopathy
Cincinnati Children's Hospital, Cincinnati, OH
Stephanie Ware, MD, PHD – $86,735

An understanding of the causes of cardiomyopathy in children is less advanced than in the adult cardiomyopathy population due to fewer patients, increased genetic heterogeneity and fewer resources for research. While it is clear that genes that cause cardiomyopathy in the adult population also play a role in pediatric cardiomyopathies, their relative contribution is unclear. The long-term goal of this study is to identify the disease causing and disease associated genetic variants underlying pediatric cardiomyopathy using novel genomic technologies in patients with clinically well defined subtypes of cardiomyopathy. The study will test the hypothesis that two or more mutations account for a subset of cases characterized by early onset, severe and aggressive disease in the pediatric population. This study will further develop novel genetic testing approaches for the identification of pathogenic mutations and disease associated variants. Identifying the disease causing and disease associated genetic risk factors can greatly impact anticipatory prevention, surveillance, early management and disease course. In addition, these results will affect the development and application of the new genomic technologies in clinical medicine and will provide an intellectual framework for further investigation of the genetic basis of cardiomyopathy in children.