Head and Heart Chair

In France, birth defects affect about 3.2% of births each year. Their consequences on children's health make them one of the leading causes of neonatal mortality and pediatric hospitalization in developed countries. They therefore remain a major public health issue.

Despite constant advances in research, the genetic origins of these malformations often remain unknown: about 50% of affected children do not yet benefit from an accurate genetic diagnosis, which limits the possibilities of personalized care.

This project aims to identify the molecular causes of craniofacial and cardiac malformations in patients without a genetic diagnosis, and to define previously unrecognized syndromes. It then aims to elucidate the underlying biological mechanisms of these malformations in order to improve knowledge about early human development, proof of concept for new drugs and medical-surgical management of patients. In parallel with the research, the project has the following missions:

• Training of tomorrow's researchers and clinicians in the specificities of these malformations, in order to improve multidisciplinary patient care.

• Dissemination of knowledge and awareness about these disorders to the general population, to promote the acceptance of patients in society at all ages of life.

The expected impact for patients with malformations is to reduce diagnostic error, improve their care and give them the opportunity to fulfill their life projects. For the science of tomorrow, it is a question of studying normal development and using the knowledge acquired about rare diseases to potentially improve our understanding of common pathologies (cancer, osteoarthritis, osteoporosis, etc.).