Am. J. Hum. Genet. 2020
Publish at 31.10.2019
Presentation
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).
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.
Team
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Jeanne Amiel
chef d'équipe
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Stanislas Lyonnet
MD-PhD
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Valeria Agostini
PhD student
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Yasmine Benadjaoud
PhD student
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William Bertani-Torres
PhD student
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Nadège Bondurand
Research Scientist
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Damien Bonnet
MD-PhD
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Lucile Boutaud
PhD student
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Damelys Calderon
Post-doc
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Kenza Cheriet
Master 2 student
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Françoise Clerget-Darpoux
Research Scientist
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Loïc de Pontual
MD-PhD
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Cécile Deleschaux
Study Engineer
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Nabila Djaziri
Study Engineer
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Sylvain Ernest
Research Scientist
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Dèlia Ferrando-Cid
Master 2 student
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Chris Gordon
Research Scientist
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Charlotte Guillouet
Master 2 student
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Anne Guimier
MD-PhD
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Sandrine Marlin
MD-PhD
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Anna Pelet
Research Engineer
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Véronique Pingault
MD-PhD
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Nicolas Rive Le Gouard
Master 2 student
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Serge Romana
MD-PhD
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Sophie Thomas
Research Scientist
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Nancy Vegas
PhD student
Resources & publications
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Hum. Mol. Genet. 2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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Biol. Cell 2019
Cilia in hereditary cerebral anomalies.
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Am. J. Hum. Genet. 2018
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Am. J. Hum. Genet. 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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Gastroenterology 2017
Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle...
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Am. J. Hum. Genet. 2017
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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Hum. Mol. Genet. 2016
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro...
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Am. J. Hum. Genet. 2014
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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Am. J. Hum. Genet. 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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J. Med. Genet. 2013
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.