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The Goldmuntz Laboratory manages a cardiac biorepository of case and parental samples acquired from the Cardiac Center at Children’s Hospital of Philadelphia beginning in 1994. There are more than 4,000 cases consented, all with congenital heart disease (CHD). The lab generates DNA and lymphoblastoid cell lines or cryopreserved white blood cells from these case samples.
Previously, the lab worked to assess the functional significance of case variants in cardiac-related genes. Many samples have been array-genotyped for SNP-, gene- and CNV-based genome-wide association studies. The Goldmuntz Lab has a concurrent clinical dataset available that details presenting cardiac anatomy, prenatal exposures, and family medical history. There is also the potential to associate cases with data in the electronic medical record, as the the laboratory’s goal is to relate genetic variability to clinical outcomes.
In related work, the lab uses exome sequence generated by the Pediatric Cardiac Genomic Consortium, which the lab team has contributed to substantially, to study the contribution of rare variants to CHD.
- SNP-based, gene-level and CNV genome-wide association studies
- Contribution of rare variants to CHD
- iPSC to study the impact of damaging mutations on downstream developmental events
- Relationship of genetic variation to clinical outcomes
Betsy Goldmuntz, MD
Dr. Goldmuntz's research focuses on the genetic basis and modifiers of congenital heart disease, cardiomyopathy, and heart failure. Her goal is to identify genetic alterations conferring a risk for congenital heart disease and to correlate these findings with clinical outcomes. To this end, she is also performing clinical translational studies.