Much remains unknown about the causes of congenital heart disease. Scientists know that genes play a role, but the specifics are unclear. This gap in knowledge makes it difficult for doctors to predict risk within families, conduct effective prenatal testing, and provide accurate counseling.

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Najim Lahrouchi is on a mission to uncover the genetic origins of congenital heart disease by investigating the correlation between genetic variation and various types of heart defects. He does this by using the extensive database he has established of clinical and genetic information from thousands of heart patients, collected from large biobanks, hospitals, and researchers worldwide. He aims to integrate this genetic data with innovative single-cell RNA sequencing techniques that measure gene activity in the developing heart to reveal causal relationships by using state-of-the art bioinformatic approaches. This paves the way for improved diagnosis and treatment of congenital heart disease.

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