6 mois

Multi-scale understanding of rare genetic diseases through bioinformatics and omics

Congenital myopathies are a class of rare genetic diseases characterized by muscle weakness from birth and abnormalities in muscle biopsies. There is currently no curative treatment for these diseases as the comprehension of the pathological mechanisms remains limited. Our team previously identified the genetic basis of several myopathies and characterized corresponding mouse models from which we generated transcriptomic and proteomic data. Preliminary treatments of the mouse models through genetic modulation and pharmacology have also been analyzed through omics.