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
GUIMIER Anne, PH
LYONNET Stanislas, PU-PH
AMIEL Jeanne, PU-PH
MARC Yvan, IE
THOMAS Sophie, CRCN - Ciliopathies and Brain development
BOUTAUD Lucile, PH
GAYDA Fanny, IE
MONCLER Candice, PhD student
BALLORIN Fiona, Stagiaire
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
MARC Yvan, Ingénieur d'études
Team
Scientific Publications
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2026
Dup15q model mice exhibit impaired gastrointestinal motility and a constipati..., Springer Science and Business Media LLC
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2025
Rare features in Feingold syndrome type 1, Elsevier BV
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2025
Intracerebral Transplantation of Enteric Glia, Springer US
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2025
Vestibular Deficit in Patients with Waardenburg Syndrome, MDPI AG
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2025
TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-dri..., American Society for Clinical Investigation
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2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, mot..., Am J Hum Genet
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2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal letha..., Eur J Hum Genet
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2025
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patien..., Springer Science and Business Media LLC
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2024
Sacubitril/Valsartan in Pediatric Heart Failure (PANORAMA-HF): A Randomized, ..., Ovid Technologies (Wolters Kluwer Health)
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2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auric..., Springer Science and Business Media LLC
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2024
Insights into Craniofacial Development and Anomalies: Exploring Fgf Signaling..., Curr Osteoporos Rep
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2024
Low-dose infigratinib increases bone growth and corrects growth plate abnorma..., J Bone Miner Res
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2024
Cardiomyopathies in children and adolescents: aetiology, management, and outc..., Oxford University Press (OUP)
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2023
2023 ESC Guidelines for the management of cardiomyopathies, Oxford University Press (OUP)
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2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA
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2023
A 22q13.1 duplication in mosaicism including SOX10., Am J Med Genet A
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2023
Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mi..., American Society for Clinical Investigation
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2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun
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2022
Long-Term Intranasal Nerve Growth Factor Treatment Favors Neuron Formation in..., Front Cell Neurosci
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2021
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning Durin..., Front Mol Neurosci
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2021
Live Imaging of Primary Neurons in Long-Term Cryopreserved Human Nerve Tissue, Society for Neuroscience
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2021
Prevention of guanylyl cyclase–B dephosphorylation rescues achondroplastic dw..., American Society for Clinical Investigation
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2021
Association between prophylactic angiotensin-converting enzyme inhibitors and..., Oxford University Press (OUP)
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2021
Colitis Linked to Endoplasmic Reticulum Stress Induces Trypsin Activity Affec..., Oxford University Press (OUP)
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2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g..., J Clin Invest
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2020
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis..., Stem Cell Res
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2020
A Reproducible New Model of Focal Ischemic Injury in the Marmoset Monkey: MRI..., Transl Stroke Res
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2019
Post-stroke remodeling processes in animal models and humans., J Cereb Blood Flow Metab
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2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi..., Hum Mol Genet
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2019
Interfacing cells with microengineered scaffolds for neural tissue reconstruc..., Brain Res Bull
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2019
Development and Validation of a New Risk Prediction Score for Life-Threatenin..., Ovid Technologies (Wolters Kluwer Health)
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2019
Cilia in hereditary cerebral anomalies., Biol Cell
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2018
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in..., Hum Mol Genet
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2018
Neurons and Glia in the Enteric Nervous System and Epithelial Barrier Function, American Physiological Society
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2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ..., Am J Med Genet A
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2018
A neuropathological study of novel RTTN gene mutations causing a familial mic..., Birth Defects Res
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2017
Ketogal: A Derivative Ketorolac Molecule with Minor Ulcerogenic and Renal Tox..., Frontiers Media SA
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2017
Live calcium and mitochondrial imaging in the enteric nervous system of Parki..., eLife Sciences Publications, Ltd
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2017
HIV-1 Tat-induced diarrhea evokes an enteric glia-dependent neuroinflammatory..., Springer Science and Business Media LLC
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2017
VPAC Receptor Subtypes Tune Purinergic Neuron-to-Glia Communication in the Mu..., Frontiers Media SA
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2017
Arundic Acid Prevents Developmental Upregulation of S100B Expression and Inhi..., Frontiers Media SA
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2017
Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle..., Gastroenterology
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2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe En..., Am J Hum Genet
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2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy., Am J Hum Genet
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2016
Meckel's and condylar cartilages anomalies in achondroplasia result in defect..., Hum Mol Genet
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2016
Rifaximin, a non-absorbable antibiotic, inhibits the release of pro-angiogeni..., Spandidos Publications
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2016
Glucosensing in the gastrointestinal tract: Impact on glucose metabolism, American Physiological Society
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2016
Autologous transplantation of intestine-isolated glia cells improves neuropat..., Springer Science and Business Media LLC
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2015
High incidence and variable clinical outcome of cardiac hypertrophy due to AC..., Eur J Hum Genet
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2015
Enteric glia: A new player in inflammatory bowel diseases, SAGE Publications
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2015
Evidence for Neuronal and Structural Changes in Submucous Ganglia of Patients..., Ovid Technologies (Wolters Kluwer Health)
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2015
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro..., Oxford University Press (OUP)
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2015
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro..., Hum Mol Genet
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2015
S100B-p53 disengagement by pentamidine promotes apoptosis and inhibits cellul..., Spandidos Publications
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2015
A genomic region encompassing a newly identified exon provides enhancing acti..., Dev Neurobiol
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2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie..., Eur J Hum Genet
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2014
Prevention of intestinal obstruction reveals progressive neurodegeneration in..., Springer Science and Business Media LLC
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2014
Distinct subcellular localization of the neuronal marker HuC/D reveals hypoxi..., Neurogastroenterol Motil
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2014
FGFR3 mutation causes abnormal membranous ossification in achondroplasia., Hum Mol Genet
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2013
Imaging neuron-glia interactions in the enteric nervous system., Front Cell Neurosci
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2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome an..., Eur J Hum Genet
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2013
Neurotransmitters involved in fast excitatory neurotransmission directly acti..., Neurogastroenterol Motil
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2012
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse mode..., Am J Hum Genet
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2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet
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2012
TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet
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2012
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome ty..., Springer Science and Business Media LLC
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2012
Role of serotonin in gastrointestinal physiology and pathology., Minerva Endocrinol
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2012
Novel and recurrent non-truncating mutations of the MITF basic domain: genoty..., Springer Science and Business Media LLC
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2011
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and pr..., Hum Mol Genet
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2011
Proinflammatory stimuli activates human-derived enteroglial cells and induces..., Neurogastroenterol Motil
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2011
S100B protein in the gut: the evidence for enteroglial-sustained intestinal i..., World J Gastroenterol
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2010
BBS10 mutations are common in 'Meckel'-type cystic kidneys., J Med Genet
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2010
Review and update of mutations causing Waardenburg syndrome, Hindawi Limited
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2009
Epistasis between RET and BBS mutations modulates enteric innervation and cau..., Proc Natl Acad Sci U S A
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2007
Enteric glial-derived S100B protein stimulates nitric oxide production in cel..., Gastroenterology
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2005
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's d..., Springer Science and Business Media LLC
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2002
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex ph..., Springer Science and Business Media LLC
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2000
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary d..., Hum Mol Genet
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1998
Mutation of the Sry-related Sox10 ge..., National Academy of Sciences
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1998
SOX10 mutations in patients with Waardenburg-Hirschsprung disease, Springer Science and Business Media LLC