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Head of the team:Perinatal imprintings and Neurodevelopmental disorders..
Research Director at the Institute of Neurobiology of Mediterranée, Marseille, France.
For several years I have been working on imprinted genomic genes that are involved in brain control determining the adaptation of the newborn to postnatal life. We have focused our studies on Prader-Willi syndrome, a rare neurodevelopmental disorder involving several imprinted genes including Necdin and Magel2, belonging to the same MAGE gene family. We have isolated and characterised these genes in humans and mice. We have shown that they are associated with brain development and PWS deficits. In parallel, we also revealed a plasticity of the epigenetic regulation of Necdin and Magel2, allowing a stochastic and weak expression of the “silent” maternal allele with functional consequences on the phenotype. In recent years, we have revealed an altered oxytocinergic system in these mutant mice and, importantly, we have shown organizational effects of oxytocin that shape the development of the nervous system and thus modify adult behaviour. Those studies are still ongoing. Our preclinical studies using oxytocin treatment in infancy have led to phase 3 clinical trials in Prader-Willi children.
Overall, I have strong expertise and experience in human genetics, mouse genetics, transgenic mouse models, genomic imprinting, neurodevelopment and on the oxytocin system.
Research Interests
Papers共 92 篇Author StatisticsCo-AuthorSimilar Experts
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Biological Psychiatryno. 8 (2023): 785-799
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Frontiers in neuroscience (2023): 1026939
Biologie Aujourd’huino. 3-4 (2022): 131-143
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