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Approved research

Control data-sets for congenital heart disease copy number variant analysis

Principal Investigator: Professor Peter Gruber
Approved Research ID: 19348
Approval date: May 11th 2016

Lay summary

We are studying the genetic basis of congenital heart disease. Specifically we are interested in genetic rearrangements that may occur in these children and adults. We are interested in improving the health of children and adults with congenital heart disease. It has been clearly show that children with identified genetic abnormalities have an increased risk of morbidity and mortality compared to those without obvious identifiable genetic abnormalities. However, no study to date has comprehensively looked at CNV (copy number variants) in this population. We are completing this study but need a control population in order to compare. We will use the data from the UK Biobank to compare to our other data. This comparison will allow us to determine which genetic abnormalities are distinct for the population with congenital heart disease compared to that without. 4,000 normal subjects without known congenital heart disease