Unraveling the genetics of congenital heart defects to help save lives

While congenital heart defects (CHD) remain the most common cause of death in infants, the genetic basis of these defects is unknown in the vast majority of cases.

To pave the way for better patient care and prevention of CHD, Sanford Burnham Prebys is teaming up with Rady Children’s Hospital to demystify the genetics of this disorder by studying the genes of actual patients.

• Learn how the team helped a family receive life-saving therapies by identifying a mutation associated with CHD.
• Discover how exploring and sequencing the genomes of patient families helps researchers predict at-risk patients and improve precision medicine.
• Hear how testing gene candidates can lead to the discovery of new CHD genes and pathways to help vulnerable infants.

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