Human Birth Defects

Failures in neural tube folding are among the most common birth defects, affecting 1:1000 pregnancies. Neural tube defects result in severe disabilities and lethality shortly after birth. Surprisingly, genetic mutations associated with neural tube defects in humans do not lead to defects in mice. Our stem-cell platform offers a unique opportunity to study how neural tube morphogenesis is regulated by the human genome and to understand its evolution across species.