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A Heart Defect in 3 of Every 10,000 Babies May Start in DNA That Does Not Code for Anything
['Amelia Palmer']
Medical Daily
For most of the genomic era, the search for the causes of congenital heart defects has focused on one place: the roughly 2 percent of DNA that codes for proteins.
The researchers knocked out EnhTBX1 in embryonic stem cells and grew blood vessel organoids, three-dimensional lab-grown tissue that recapitulates vascular development.
Where This Fits in a Broader ShiftThe work sits at the heart of a genuine change in how congenital heart disease genetics is being done.
Families with a child affected by a congenital heart defect should discuss genetic testing options with a cardiologist or clinical geneticist rather than drawing conclusions from a single mechanistic study.
It occurs in roughly 3 of every 10,000 live births and is the most prevalent cyanotic congenital heart defect.