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Curing Genetic Muscle diseases

  • Full or part time
  • Application Deadline
    Applications accepted all year round
  • Self-Funded PhD Students Only
    Self-Funded PhD Students Only

Project Description

Congenital myopathies are a group of genetic muscle diseases with unclear mechanisms and no efficient treatment. As congenital myopathies are associated with mutations in genes encoding proteins of the sarcomere and excitation-contraction coupling, the student will first characterise how these particular mutations impair the basic molecular and cellular contractile mechanisms. The student will then uncover how these changes impact muscle growth. Finally, the student will identify potential treatment targets and test them. To achieve this, the student will use drosophila models of the diseases (congenital myopathies) together with advanced microscopy (fluorescent probes, confocal microscopy, super-resolution microscopy) and biophysical assays.

Student profile:
At least a 2:1 honours degree or equivalent (focus on biomedicine, cell biology and/or biochemistry). The student will also need some basic experience with drosophila.

Benefit for the student:
The student will benefit from the pluridisciplinary nature of this project as well as the experience and technical expertise of the supervisor. The student will receive a unique training experience that will combine molecular biology, genetics, advanced microscopy, cell physiology and biophysics. This combination is likely to be highly sought after by future employers and funders.

Funding Notes

This project is on a self-funded basis. For more details please contact Julien Ochala -


Levy Y, Ross JA, Niglas M, Snetkov VA, Lynham S, Liao CY, Puckelwartz MJ, Hsu YM, McNally EM, Alsheimer M, Harridge SD, Young SG, Fong LC, Español Y, Lopez-Otin C, Kennedy BK, Lowe DA, Ochala J (2018) Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness. J Clin Invest Insights. 3: 120920.

Lindqvist J, Levy Y, Pati-Alam A, Hardeman EC, Gregorevic P, Ochala J. (2016) Modulating myosin restores muscle function in a mouse model of nemaline myopathy. Ann Neurol. 79: 717-725.

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