Congenital heart disease (CHD) is the most common birth defect affecting ∼3,000 babies in Australia each year. The cause of most CHD is unknown and attributed to a combination of genetic and environmental factors. In 2003, the Kids Heart BioBank (KHB) was established at the Heart Centre for Children, to accelerate genetic research into CHD.
The KHB is an invaluable resource that has significantly contributed to many genetic advances in the field from gene sequencing to genome-wide association studies to genomic sequencing. Further, it provides an opportunity for genetic diagnosis in those patients for whom clinical genetic testing is not yet available. The value of this resource to patients and families is highlighted by the high participation rate.
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