Source: BBC Health News www.bbc.co.uk/news/health
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Date of publication: August 2016
Publication type: News item
In a nutshell: New analysis of congenital heart disease has found affected children often inherit damaging gene variants from their seemingly healthy parents.
The work by Wellcome Trust Sanger Institute, and partially funded by the British Heart Foundation, sought to discover more about the genetic background of CHD.
CHD affects 1% of people worldwide and around 1.35 million babies each year. It causes problems such as holes in the heart which can need corrective surgery.
The international research, published in Nature Genetics, analysed the protein-coding segments of the genome of 1,900 CHD patients and their parents.
It had previously been thought that many cases might be caused by new genetic mutations which were absent in the parents.
This study found children can instead inherit rare gene variants and it paves the way for affected families to be given clearer advice.
Length of publication: 1 webpage
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Acknowledgement: BBC Health News www.bbc.co.uk/news/health