Funded PhD project at the IGBMC in Strasbourg, France
Genetics and physiopathology of tubular aggregate myopathies
A 3-years funded PhD position is available in the lab of Jocelyn Laporte at the IGBMC in Strasbourg,
France. Our team is interested in congenital myopathies and we are looking for a highly motivated
student to work on the genetics and physiopathology of tubular aggregate myopathies.
Tubular aggregate myopathies (TAM) are progressive muscle disorders associated with abnormal
accumulations of membrane tubules in muscle fibers. The aggregates can also be found as secondary
features in a variety of muscle disorders and accumulate in muscle with age.
We have recently identified the first TAM gene (Bohm et al., Am J Hum Genet 2013). The gene codes
for the calcium sensor STIM1, a major regulator of intracellular calcium homeostasis. Calcium
triggers muscle contraction and is a key molecule for muscle growth and differentiation. We
demonstrated that the identified STIM1 mutations strongly impact on the calcium level in muscle
cells. However, the exact disease mechanisms leading to muscle dysfunction remain unknown. The
multidisciplinary PhD project consists of:
1) Analysis of the mechanisms of STIM1-related tubular aggregates and calcium dysregulation in
the cell culture model and pharmacological reversal of the cellular phenotype
2) Analysis of the pathomechanisms leading to tubular aggregate myopathy in zebrafish and
mouse models
3) Identification of new TAM genes using next generation sequencing
The perfect candidate has a basic knowledge in molecular and cellular biology and in informatics,
had a previous training period in a research lab, and is a highly motivated team player. French
speaking is NOT a requirement.
The host institute:
The IGBMC is one of the leading European centres of biomedical research
with excellent funding and core facilities as next generation sequencing,
antibody production, and confocal/electron imaging together with
bioinformatics, structural biology and animal phenotyping services.
Strasbourg is a cosmopolitan city in the heart of Europe, has a great
countryside, and is just 2 hours from Paris by train.
Contact:
Please send your application and a CV to Johann Böhm (johann@igbmc.fr; +33388653415)
Team website: www.igbmc.fr/Laporte
Further information:
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Böhm J et
al., Am J Hum Genet. 2013 Feb 7;92(2):271-8.