Wendy Chung, MD, PhD

Identification of New Genes for Infantile Cardiomyopathy
Columbia University, New York, NY
Wendy Chung, MD, PhD – $100,000

For infants with cardiomyopathy, it is particularly challenging to determine the cause of cardiomyopathy in a family because less is known of cardiomyopathy in infants compared to older children and adults. Identifying the cause of cardiomyopathy is particularly important for infants since their prognosis is on average worse and because families are often considering having additional children and would like to better understand the risk of having another similarly affected child. This multi-center study will be examining infants with cardiomyopathy using the most advanced genetic methods including exomesequencing in which the portion of the DNA that contains our 20,000 genes is sequenced and analyzed. Families with more than one affected infant without an identifiable genetic cause will be the focus since these families are most likely to have an underlying novel genetic basis. After sequencing the coding region of the genes, known normal genetic variants will be filtered out and disease-causing mutations in new genes for infantile cardiomyopathy will be identified. After identifying new genes for infantile cardiomyopathy, other children with cardiomyopathy will be screened for mutations in that same gene to confirm findings. Identification of new genes for infantile cardiomyopathy should help establish new targets for treatment, clarify the prognosis for families, and provide reproductive options for families to have healthy children in the future.