Présentation
Jean-Michel Rozet est Docteur es science génétique de l'Université Paris Descartes et Directeur de Recherche INSERM. Il s’est formé à la génétique auprès du Pr Arnold Munnich avant de devenir l’élève du Dr Josseline Kaplan à qui il a succédé en 2009 à la tête du laboratoire de génétique ophtalmologique de l’Institut des maladies génétiques de Paris, Imagine. Ses recherches portent sur les affections dégénératives de la rétine et du nerf optique ainsi que sur les anomalies du développement embryonnaire oculaire. Le laboratoire de génétique ophtalmologique compte à son actif l’identification de nombreux gènes de maladies emblématiques telles l’amaurose congénitale de Leber, la maladie de Stargardt, la maladie de Kjer et autres neuropathies optiques, la microcorie congénitale, le syndrome de Gillespie… En plus du décryptage génétique de ces maladies, le laboratoire a initié une approche thérapeutique des maladies de la rétine basée sur l’utilisation d’oligonucléotides antisens.
L'équipe "Génétique Ophtalmologique" est composée de 3 groupes :
- Dystrophies rétiniennes sévères et précoces : décryptage génétique et thérapie
- Neuropathies optiques monosymptomatiques et syndromiques
- Développement oculaire
Ressources & publications
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2018Journal (source)Hum Mol GenetBasal exon skipping and nonsense-associated altered splicing allows bypassing...
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2012Journal (source)BrainSpastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
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2012Journal (source)Nat GenetMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum GenetMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2009Journal (source)Am J Hum GenetTMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2004Journal (source)Am J Hum GenetRetinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2002Journal (source)Am J Hum GenetThe ABCA4 gene in autosomal recessive cone-rod dystrophies.
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2023Journal (source)Kidney IntThe genetic landscape and clinical spectrum of nephronophthisis and related c...
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2024Journal (source)ScienceCiliopathy patient variants reveal organelle-specific functions for TUBB4B in...
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2024Journal (source)Int J Mol SciFour Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset ...
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2022Journal (source)JAMA OphthalmolAssociation of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
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2021Journal (source)Genes (Basel)Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 P...
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2020Journal (source)Am J Hum GenetLoss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2019Journal (source)Adv Exp Med BiolGenetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated wi...
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2019Journal (source)Adv Exp Med BiolDescription of Two Siblings with Apparently Severe CEP290 Mutations and Unusu...
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2013Journal (source)Am J Hum GenetALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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2018Journal (source)Hum MutatWhole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
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2017Journal (source)Am J Hum GenetMutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Invest Ophthalmol Vis SciNonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Tra...
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2015Journal (source)J Med GenetIFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2015Journal (source)Mol Ther Nucleic AcidsIntravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
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2014Journal (source)Am J Hum GenetMutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic AcidsAON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2012Journal (source)Nat GenetMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum GenetMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2009Journal (source)Am J Hum GenetTMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2003Journal (source)Adv Exp Med BiolLeber congenital amaurosis--genotyping required for possible inclusion in a c...
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2004Journal (source)Am J Hum GenetRetinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2024Journal (source)Nat CommunGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
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2017Journal (source)Am J Hum GenetMutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2020Journal (source)Am. J. Hum. Genet.Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2018Journal (source)Hum Mol GenetBasal exon skipping and nonsense-associated altered splicing allows bypassing...
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2015Journal (source)J Med GenetIFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Cold Spring Harbor LaboratorymedRxiv
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Journal (source)Cold Spring Harbor LaboratorymedRxiv
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2023Journal (source)medRxivTUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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Journal (source)Cold Spring Harbor LaboratoryTUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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2022Journal (source)JAMA OphthalmolAssociation of Missense Variants in VSX2 With a Peculiar Form of Congenital S...
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2021Journal (source)J Clin InvestImpaired complex I repair causes recessive Leber's hereditary optic neuropathy.
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2020Journal (source)BrainYIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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2020Journal (source)Am J Hum GenetLoss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2018Journal (source)Hum Mol GenetBasal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)BrainReply: The expanding neurological phenotype of DNM1L-related disorders.
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2018Journal (source)JAMA NeurolNeurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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2018Journal (source)Am. J. Hum. Genet.Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)BrainMutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)J Med GenetCompound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2023Journal (source)EMBO Mol MedAutosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
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2023Journal (source)BrainAutosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-...
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2023Journal (source)Cell RepPCDH12 loss results in premature neuronal differentiation and impeded migrati...
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2018Journal (source)JAMA NeurolNeurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Childre...
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2017Journal (source)Am J Hum GenetMutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)BrainMutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)J Med GenetCompound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2016Journal (source)Am J Hum GenetRecessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2015Journal (source)Am J Hum GenetSubmicroscopic deletions at 13q32.1 cause congenital microcoria.
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2014Journal (source)Am J Hum GenetMutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic AcidsAON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...