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

Type de poste
Niveau d'étude minimal
Durée du poste
Contrat renouvelable
Contrat renouvelable
Date de prise de fonction
Date de fin de validité de l'annonce

1 Rue Laurent Fries
67400 Illkirch Graffenstaden

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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.
To better understanding disease mechanisms and identify novel therapeutic targets, the student will integrate data from human and models at the molecular (transcriptomic, proteomic, interactome), cellular (histology and imaging) and physiological (phenotypes) levels. More specifically, the candidate will perform multi-omics analysis and splicing event detection in normal and in disease models. The candidate is expected to develop and improve bioinformatics tools to facilitate data analysis and visualization.

Expected profile: Proficient with R and Python programing languages as well as statistics. The candidate needs to be comfortable with the Unix environment. English required for presentations, reports and day to day life in the lab. Database skill (SQL) would be a plus.

Keywords: Multi-omics, RNA-seq, proteomic, splicing, multi-scale, genetic disease

Equipe adhérente personne morale SFBI
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