PhD student with experience in human genetics and neuroscience to explore the role of the DPYSL proteins family in neurodevelopmental disorders

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Key Words genetics,neurodevelopmental disorders, neuroscience

Details of the offer

Place of work: University of Tours and INSERM UMR1253 iBraiN / Team IDeALS (Genomics and pathophysiology of neurodevelopmental and motor neuron disorders)

Missions:

One of the objectives of our team is to describe the genetic architecture and the pathophysiological mechanisms involved in neurodevelopmental disorders (intellectual disability, autism spectrum disorder) using translational approaches combining human genetics, genomics and neuroscience. Among the genes identified by the team, we previously described de novo variants in the DPYSL5 gene associated with intellectual disability, corpus callosum dysgenesis or cerebellar dysplasia (Jeanne et al, Am J Hum Genet, 2021). The DihydroPYrimidinaSe-Like (DPYSL) family proteins are players expressed in the developing central nervous system (CNS), and regulate neuronal migration, neurite extension, axon guidance, dendritic spine development and synaptic plasticity. We identified variants in other DPYSL genes, also associated with ID, highlighting their central role in fundamental processes of brain formation and structural organization. The objective of the thesis project is to characterize the molecular and functional impacts of the candidate variants during in vitro and in vivo neuronal development, by exploring murine (primary neuronal cultures) or human (iPSC-derived neurons) cell models, a well as a mouse transgenic model.

Qualifications:

We are looking for a candidate with a scientific and university background (Master level) showing theoretical and practical expertise in human genetics and cellular and molecular neurobiology. An interest in the field of NDD will be greatly appreciated, as well as practical skills in the use of primary neuronal cultures, and possibly in iPSC-derived neuronal cultures. Excellent communication skills and a strong interest in working in a team are of course expected.

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Type of job

Type of contract CDD

Application deadline

Employment start date 01/10/2025

Contact

Please send a single PDF file comprising a cover letter, a CV, a publication list, names and contact of 3 references and a brief statement of motivation and research interests to Frederic Laumonnier.