Jeanne Amiel

Embryology and genetics of malformations

Publish at 31.10.2019


Jeanne Amiel


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Our research program is aiming to identify genes, non-coding genomic alterations or post-transcriptomic modifications responsible for congenital malformations and answer important questions in clinics, biology and developmental genetics. We have a special interest for tissues derived from the neural crest (neurocristopathies), and ciliopathies.


The neural crest is a transitory embryonic structure that participates to the development of many structures. We have a long lasting interest on the development of the enteric nervous system and Hirschsprung disease, a model for complex oligogenic and sex-dependent inheritance. In collaboration with many reference centers for rare diseases on the Necker Hospital campus we also developed research projects on craniofacial anomalies (especially mandibulofacial dysostoses), syndromic deafness (including Waardenburg syndrome) and cardiac malformations through NGS, in vitro and in vivo analysis. For each project, our models include iPS cells and their differentiation towards lineages of interest and/or development of animal models (zebrafish and mouse).



EDNRA pathway
Our group has investigated the genetic causes of two rare craniofacial disorders; Auriculocondylar syndrome (ACS) and Mandibulofacial dysostosis with alopecia (MFDA). Both involve perturbations of the endothelin receptor type A (EDNRA) signaling pathway.




Endothelin signaling pathway
Our group has identified mutations in endothelin 1 (EDN1) and in downstream regulators of the pathway it activates (PLCB4, GNAI3 and MEF2C), in variable presentations of Auriculocondylar syndrome, comprising QME, MFD and/or ID, as indicated.



Ciliopathies are a fast growing group of diseases that are the consequence of an abnormal genesis or functioning of the motile and/or primary cilia. Our work on ciliopathies contributes to the understanding of primary cilium formation and links extreme lethal phenotypes with viable syndromes. A recent focus has been made on cerebral defects associated to primary cilia dysfunction that will be investigated by 2D and 3D cell-based models of neocortical development (cerebral organoids) generated from patient-derived IPS cells.


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