Pathophysiology of neuromuscular diseases
Team Leader : Jocelyn LAPORTE
Department : Translational medecine and neurogenetics
PhD student
PhD scholar in the Department of Translational Medicine and Neurogenetics
swains@igbmc.fr
Team Leader : Jocelyn LAPORTE
Department : Translational medecine and neurogenetics
Ms. Supriya Priyadashani SWAIN, is a PhD scholar from the team LAPORTE majorly working on the multi-omics characterization of normal and pathological skeletal muscle, specifically congenital myopathies, rare genetic diseases that cause muscle weakness from birth. These conditions are poorly understood, with no curative treatments available. She analyzes omics data generated by the team from disease models that are either untreated or treated with innovative therapies to identify molecular signatures and therapy effects. She also combines these omic data with quantitative imaging, histology, and in vivo phenotyping data to create an integrated view of these pathologies using advanced computational pipelines, artificial intelligence, and heterogeneous multi-layer networks. Her work aims to uncover key molecular pathways involved in various myopathies and identify biomarkers for diagnosis and monitoring therapeutic efficacy. These pathways will serve as candidates for genetic and pharmacological manipulation, potentially validating new therapeutic proof-of-concept approaches.