Jeanne AMIEL and Laurence LEGEAI‑MALLET
Genetics of Developmental Disorders
Published on 26.08.2026
Presentation
- 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 2D and 3D IPS cell-based models to explore the role of primary cilia in the development of the human brain,
- to dissect the molecular network, including transcriptional and post-transcriptional regulation, governing enteric and peripheral nervous system differentiation and maintenance.
GORDON">https://www.institutimagine.org/fr/users/chris-gordon">GORDON Chris, CRCN - Craniofacial disorders
Charlotte Guillouet, PhD student
DJAZIRI Nabila, IE
PELET Anna, IR
GUIMIER Anne, PH
LYONNET Stanislas, PU-PH
AMIEL Jeanne, PU-PH
THOMAS">https://www.institutimagine.org/fr/users/sophie-thomas">THOMAS Sophie, CRCN - Ciliopathies and Brain development
Lucile BOUTAUD, PH
Fanny GAYDA, IE
Candice MONCLER, PhD student
Mariami KHAREBAVA, M2 student
BONDURAND">https://www.institutimagine.org/fr/users/nadege-bondurand">BOND… Nadege, DR2 - Neurocristopathies
PINGAULT Veronique, MCU-PH
CIRILLO Carla, CRCN
HENRY Mathilde, PhD student
DAY lucie, PhD student
DAMBROISE">https://www.institutimagine.org/fr/users/emiliedambroiseinstitutimagine… Emilie, CRCN - Bone diseases related to FGF signaling deregulation
LEGEAI-MALLET Laurence, DRCE
MORICE Anne MCU-PH
VILPREUX Charline, IR
LEMOINE Clara, IE
MAYEUX Franck, IE
de la SEIGLIERE Amélie, IE
KACI Nabil, IE
FAYAD Chantal, PhD student
PEREUR Pachel, PhD Student
LANDARD Matthieu, Master 2
Les ciliopathies sont un groupe de pathologies qui s’est fortement agrandi et qui sont la conséquence d'une anomalie de la biogénèse ou de la physiologie des cils primaires et/ou mobiles. Nos travaux sur les ciliopathies contribuent aux connaissances sur la formation de cil primaire et décrivent une variabilité phénotypique allant de formes létales in utero à des syndromes viables. Plus récemment, nous nous intéressons aux malformations cérébrales par dysfonctionnement des cils primaires via des modèles cellulaires 2D et 3D de développement néocortical (organoïdes cérébraux) générés à partir de cellules iPS dérivées de patients.
Team
Scientific Publications
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2021Journal (source)Nat CommunImpaired 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...