In vivo study of dynamin in myopathies
and as a therapeutic target
and as a therapeutic target
Congenital myopathies are severe genetic diseases without therapeutic solutions to date. Our team study proteins regulating the intracellular organization of skeletal muscle and that are mutated in congenital myopathies.
The aim of the PhD project is to decipher the muscle role of the GTPase dynamin 2,
a key protein in membrane trafficking and cytoskeleton regulation, and its
involvement in these myopathies. In addition, we have recently discovered that
dynamin 2 is a therapeutic target for a very severe congenital myopathy called
myotubular myopathy and aim to develop the targeting of dynamin 2 in murine
models as pre-clinical investigations. This project involves multidisciplinary
approaches with cell biology and imaging, genome editing, gene transfer using viral
vectors and mammalian models to characterize the importance of membrane
trafficking in muscle and the mechanisms leading to myopathies. All tools, models
and expertise required for this project are already available in our team. The preclinical
part is linked to a patent and collaborations with the pharmaceutical industry.
a key protein in membrane trafficking and cytoskeleton regulation, and its
involvement in these myopathies. In addition, we have recently discovered that
dynamin 2 is a therapeutic target for a very severe congenital myopathy called
myotubular myopathy and aim to develop the targeting of dynamin 2 in murine
models as pre-clinical investigations. This project involves multidisciplinary
approaches with cell biology and imaging, genome editing, gene transfer using viral
vectors and mammalian models to characterize the importance of membrane
trafficking in muscle and the mechanisms leading to myopathies. All tools, models
and expertise required for this project are already available in our team. The preclinical
part is linked to a patent and collaborations with the pharmaceutical industry.
A 3 year salary is available through funding by the Myotubular Trust patients
association.
association.
Candidate profile: holding a Master degree in biology, with previous training in a
research lab and interest in human disease and cell biology. The ability to acquire
independence and be highly motivated to learn and to work in a team is essential.
Previous expertise in pathophysiology and/or cell biology will be an asset. French
speaking is not a requirement.
research lab and interest in human disease and cell biology. The ability to acquire
independence and be highly motivated to learn and to work in a team is essential.
Previous expertise in pathophysiology and/or cell biology will be an asset. French
speaking is not a requirement.
The IGBMC institute is one of the main European centers in medical research and
offers a unique environment with 50 research teams, state-of-the-art platforms and
45 different nationalities. Strasbourg is a cosmopolitan city near Germany and 2
hours from Paris by train.
offers a unique environment with 50 research teams, state-of-the-art platforms and
45 different nationalities. Strasbourg is a cosmopolitan city near Germany and 2
hours from Paris by train.
References
-Cowling et al. Reducing dynamin 2 expression rescues X-linked centronuclear
myopathy. J Clin Invest. 2014 Mar 3;124(3):1350-63.
-Praefcke and McMahon. The dynamin superfamily: universal membrane tubulation
and fission molecules? Nat Rev Mol Cell Biol. 2004 Feb;5(2):133-47.
-Cowling et al. Reducing dynamin 2 expression rescues X-linked centronuclear
myopathy. J Clin Invest. 2014 Mar 3;124(3):1350-63.
-Praefcke and McMahon. The dynamin superfamily: universal membrane tubulation
and fission molecules? Nat Rev Mol Cell Biol. 2004 Feb;5(2):133-47.
Applications: Candidates are invited to apply by sending a curriculum vitae, a cover
letter, and contact details for two referees to:
Belinda Cowling (Belinda@igbmc.fr)
(Jocelyn Laporte (Jocelyn@igbmc.fr)
www.igbmc.fr
www.igbmc.u-strasbg.fr/Laporte
letter, and contact details for two referees to:
Belinda Cowling (Belinda@igbmc.fr)
(Jocelyn Laporte (Jocelyn@igbmc.fr)
www.igbmc.fr
www.igbmc.u-strasbg.fr/Laporte
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