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We are interested in identifying DNA variants in known and novel genes to further understand the genetic basis of pediatric cardiomyopathy. Cardiomyopathy is a disease of the heart muscle, causing systolic and / or diastolic dysfunction. It is a common cause of cardiac failure in children. Pediatric cardiomyopathy is a clinically and genetically heterogeneous disease that affects the cardiomyocyte, leading to decreased ventricular function and rapid cardiac failure. A variety of phenotypes have been described, including dilated, hypertrophic, restrictive and arrhythmogenic forms, as well as left ventricular noncompaction.
We are currently screening candidate genes using direct sequencing, and we are developing novel, non-PCR-based genetic screening methodologies that will provide a more flexible platform for mutational screening in patients with cardiomyopathy by allowing the analysis of more than 100 cardiomyopathy-related genes in a single reaction. For this purpose, we are utilizing custom array-based and whole exome-capture (enrichment) methods followed by high-throughput sequencing.
These experiments aim broadly to identify disease-causing mutations in known and novel genes, and to define more clearly the molecular mechanisms / pathways leading to cardiomyopathy and associated disorders. Furthermore, this project will be helpful for genetic counseling, family screening and genetic testing in families with history of cardiomyopathies.
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Screen shot of sequencing data analysis and coverage of targeted amplicons (Sequence capture/Next generation sequencing). Alignment of individual reads is shown at the top with a graphical representation at the bottom. The coding target region is shown in the center in green. Blue and red areas represent forward and reverse read alignments, where the height represents the number of reads at each base (depth of coverage). Yellow areas show regions of low coverage for reads.
Protein models showing a normal portion of myosin heavy chain beta (top) and the same portion with an amino acid substitution resulting from a mutation in the MYH7 gene (bottom).
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