Jeanne AMIEL and Laurence LEGEAI‑MALLET
Genetics of Developmental Disorders
Published on 01.10.2026
Presentation
The lab merges the previous “Embryology and genetics of malformations” lab and the group of Laurence Legeai-Mallet from the “Molecular and physiopathological bases of osteochondrodysplasia” lab. We combine complementary expertise related to developmental mechanisms, rare diseases and translational studies. Notably, we bring together expertise in gene regulation, rare Mendelian diseases, signaling pathways, cell and developmental biology and therapeutic approaches. Our research is based on animal models and primary cells or iPSCs from patients, and benefits from partnerships with pharmaceutical companies.
Via the Reference Center for Rare Diseases “Anomalies du Développement”, we recruit patients with undiagnosed conditions for research with a special interest in limb and craniofacial anomalies, neurocristopathies and ciliopathies. We develop cellular and animal models to understand the pathophysiology of the disorders, and we have expertise in leveraging such information for the development of pharmaceuticals.
Via the Reference Center for Rare Diseases “Anomalies du Développement”, we recruit patients with undiagnosed conditions for research with a special interest in limb and craniofacial anomalies, neurocristopathies and ciliopathies. We develop cellular and animal models to understand the pathophysiology of the disorders, and we have expertise in leveraging such information for the development of pharmaceuticals.
Goals
- To identify the genetic mechanisms underlying developmental disorders
- To develop technologies for generation of zebrafish models of human disease-causing mutations by precise genome editing,
- To generate animal and cellular models for human skeletal diseases caused by FGF signaling deregulation, for the development of novel therapeutic approaches (several preclinical trials are ongoing),
- To develop human iPSC-based 2D and 3D models to investigate the cellular and molecular mechanisms governing human brain development, with a particular focus on primary cilia, chromatin regulation, progenitor fate and neuronal differentiation, using advanced imaging and single-cell multi-omics,
- To dissect the molecular network, including transcriptional and post-transcriptional regulation, governing enteric and peripheral nervous system differentiation and maintenance.
- To design cell and drug based therapeutic approaches for replacing lost cells or regulating molecular mechanisms in defective cells
Members
GORDON Chris, CRCN - Craniofacial disorders
GUILLOUET Charlotte, Postdoctoral researcher
DJAZIRI Nabila, IE
PELET Anna, IR
GUIMIER Anne, PH
LYONNET Stanislas, PU-PH
AMIEL Jeanne, PU-PH
THOMAS Sophie, CRCN - Ciliopathies and Brain development
BOUTAUD Lucile, PH
GAYDA Fanny, IE
MONCLER Candice, PhD student
KHAREBAVA Mariami, M2 student
BONDURAND Nadege, DR2 - Neurocristopathies
PINGAULT Veronique, MCU-PH
CIRILLO Carla, CRCN
HENRY Mathilde, PhD student
DAY lucie, PhD student
DAMBROISE Emilie, CRCN - Bone diseases related to FGF signaling deregulation
LEGEAI-MALLET Laurence, DRCE
MORICE Anne MCU-PH
VILPREUX Charline, IR
LEMOINE Clara, Ingénieur d'études
de la SEIGLIERE Amélie, Ingénieur d'études
KACI Nabil, IE
FAYAD Chantal, PhD student
LESCARRET Jeanne, PhD Student
PONCET Mathilde, Master student
DU Lingxi, PhD student
RICCI Gianluca, PhD student
MAGNAC Théophile, Ingénieur d'études
BRUNET Guillaume, Ingénieur d'études
FIGUEROA GARCIA Adriana, postdoctoral researcher
KOGANE Nicolas, MD PhD student
Team
Scientific Publications
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2021Journal (source)Nat Commun
Impaired eIF5A function causes a Mendelian disorder that is partially rescued...
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2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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2020Journal (source)Stem Cell Res
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)Nat Commun
ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel...
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2019Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2019Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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2019Journal (source)Biol. Cell
Cilia in hereditary cerebral anomalies.
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2018Journal (source)Hum Mol Genet
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in...
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2018Journal (source)Am J Med Genet A
Loss of function IFT27 variants associated with an unclassified lethal fetal ...
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2018Journal (source)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...
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2017Journal (source)Gastroenterology
Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle...
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2016Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2016Journal (source)Dev. Biol.
Mouse models of Hirschsprung disease and other developmental disorders of the...
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2015Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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2015Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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2015Journal (source)Hum. Mol. Genet.
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro...
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2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
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2015Journal (source)Dev Neurobiol
A genomic region encompassing a newly identified exon provides enhancing acti...
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2014Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2013Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2013Journal (source)Eur J Hum Genet
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an...
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2012Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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2012Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2012Journal (source)Nat Med
Gene therapy rescues cilia defects and restores olfactory function in a mamma...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2012Journal (source)Science
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
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2011Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2011Journal (source)Nat. Genet.
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects...
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2010Journal (source)J Med Genet
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Epistasis between RET and BBS mutations modulates enteric innervation and cau...
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2009Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...
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2008Journal (source)Nature
Somatic and germline activating mutations of the ALK kinase receptor in neuro...
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2000Journal (source)Hum. Mol. Genet.
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary d...