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Novel approach pinpoints genetic variants involved in congenital heart disease

23Strands News
23Strands News February 18, 2022

Researchers at Gladstone Institutes have developed a novel method for identifying genetic variants that are likely to play important roles in congenital heart disease, opening up opportunities to accelerate research into this serious condition.

Nearly 1 per cent of all children are born with congenital heart disease, which can cause a range of potentially life-threatening problems with the structure and function of their hearts. The condition seems to be caused by genetic variants involved in the formation of the heart in the womb. Still, much remains to be learned about exactly which genes contribute to congenital heart disease and how they interact with each other.

Recently reported in the scientific journal Cell, researchers at Gladstone Institutes have developed a novel method for identifying genetic variants that could result in congenital heart disease. 

The new strategy combines genetics, computational biology, stem cell biology, and proteomics. The researchers claim their "approach pinpoints variants that are most likely to be involved in disease, allowing them to focus on those variants, and deepen understanding of the underlying biology of the disease, which could potentially lead to new treatments."

Open the link below to better understand how a novel technique can better explain the causes of congenital heart disease.