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Physiopathologie des maladies neuromusculaires
strasbourg - france
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jocelyn Laporte

PhD position

Congenital myopathies are a class of rare genetic diseases lacking treatment.
Their pathomechanisms are not understood. The PhD project aims to unravel the molecular
pathways 1) important for the normal maturation of skeletal muscles and 2) altered in several
congenital myopathies, using multi-omics approaches (single nuclei and bulk transcriptomic,
proteomic, lipidomic, metabolomic). The student will analyze the omics data generated by the team
from several disease models untreated or treated with previously validated pre-clinical therapies, in
order to identify the disease and therapy molecular signatures. He/she will then combine these
different multi-omics levels with quantitative imaging/histology and phenotyping into an integrated
view of these pathologies using different informatic pipelines, artificial intelligence for big data
analysis and heterogenous multi-layered networks. Wet-bench validation will be done by the
student or other team members through western blotting, quantitative PCR, ELISA assays and
metabolite dosing. Overall, the student will establish state-of-the-art methodologies for big data
integration that could be applied to other diseases, and reveal the main molecular pathways
commonly implicated in different myopathies. These pathways will reveal key biomarkers for
diagnosis and to follow therapeutic efficiency and novel therapeutic targets