Helle Lab

University of Helsinki

Manner-Suomi (FI1) · Finland

ERC-funded
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ERC Starting Grant · 2022

Unraveling the etiology of congenital heart defects – The role of maternal genetics and cardiovascular disease as a risk factor

One in a hundred infants is born with a congenital heart defect (CHD). Both genetic and environmental risk factors, such as maternal diabetes and obesity, are known to cause CHD, however, little is known about the disease mechanisms behind these risks. CHD can occur as an element of a syndrome, in conjunction with other anomalies, or as an isolated defect. I propose that there is an etiologically distinct “environmental CHD” subgroup, where in addition to the child’s genes, maternal genetics and gene expression play a major role in disease development. Moreover, I propose that in these cases the genetic risk profile predisposes the woman for both having offspring with CHD and having early…

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