Generous people, thoughtful questions
Investors Kathy and Doug Pope ask...
“Why does it help us to know the genetics underlying congenital heart defects in children? If the defects form very early in a child’s gestation, would a doctor even have time to identify a genetic risk in the mother and then prevent the defect?”
Investigator Robert Heuckeroth, MD, PhD answers...
“This question is right on target. The main structures in the heart are formed very early in pregnancy, so risk assessment and intervention to reduce risk probably need to be done before the pregnancy occurs. Understanding the genetics of congenital heart defects can help prevent those defects by helping parents before they conceive a child.
“We have done this with other kinds of birth defects. A great success story began with the observation that unrecognized deficiency of the vitamin folate increased the risk of congenital neural-tube defects, such as spina bifida. By fortifying the grain supply in the United States with extra folate, we have reduced the occurrence of these birth defects. Our hope is that, by defining the genetics of congenital heart disease, we will find new ways to prevent these serious birth defects from occurring.
“Genetic studies help us identify parents at high risk for having children with birth defects, like congenital heart defects. With advances in genome sequencing and other molecular genetics technology, it may soon be possible to know for each individual what genetic mutations they have that could be passed on to their children. After that, our knowledge of genetic mechanisms might reveal ways to reduce the risk of birth defects through modifications in parents’ diet, lifestyle, or medical treatment.
“This is a challenging project, but I believe that we are now making the kind of progress that will ultimately deliver individualized genetic recommendations to families who are planning to have children.”
Kathy and Doug Pope are enthusiastic investors in the Congenital Heart Disease Center.
Robert Heuckeroth, MD, PhD is Associate Professor of Pediatrics at Washington University School of Medicine and an investigator in the Congenital Heart Disease Center of the Children’s Discovery Institute.