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Tackling Rare Neuromuscular Diseases


Project Description

Limb-girdle muscular dystrophies (LGMD’s) comprise 30% of all progressive muscular dystrophies, collectively affecting up to 500,000 individuals worldwide. Unfortunately, no definitive treatments for LGMD exist.

A significant obstacle in the development of treatments for LGMD is the lack of a genetic diagnosis in up to 50% of patients, coupled with incomplete knowledge of the underlying disease mechanisms. However, we and others have demonstrated that recent advances in gene sequencing can successfully be used to identify novel neuromuscular disease genes, and that model organisms can be used to validate the role of these genes in muscle development and disease.

This project will use state of the art genetic techniques to identify the molecular cause in undiagnosed LGMD patients and provide further knowledge of the underlying mechanisms using the zebrafish as a model organism. The project will equip the student with a range of versatile skills including analysis of genetic data, bioinformatics, in vivo disease modelling using morpholinos and CRISPR-Cas9.

The work is expected to yield fundamental insights into the genetics of muscular dystrophy and the mechanisms of muscle maintenance, and may suggest novel targets for therapeutic intervention.

SKILLS WE EXPECT A STUDENT TO DEVELOP/ACQUIRE WHILST PURSUING THIS PROJECT

** Morpholino and CRISPR-Cas9 genome editing to generate zebrafish models of human pathologies
** RNA/DNA extraction, quantitative PCR
** Confocal and Fluorescence microscopy
** Manipulation and analysis of genomics data (SNP chip, whole exome, whole genome, gene expression data, molecular interaction data)
** Data analysis using R and Linux/Unix

All necessary skills will be taught.

Applicants must have obtained, or be about to obtain, an MSc/MRes or BSc (2i or above) in biology, molecular biology, genetics, statistical genetics, bioinformatics, or a related field in a science discipline. Prior experience in basic laboratory skills is essential. Applicants should have an interest in bioinformatics, be able to communicate data and ideas effectively, and be willing to travel internationally to attend meetings with collaborators.

For more information about the group and relevant publications you can take a look at our website:

http://www.genomemed.org/

HOW TO APPLY
Potential applicants are strongly encouraged to contact the supervisors to discuss project details (contact information below).

The current studentship is part of the MRC London Intercollegiate Doctoral Training Partnership (MRC-LID) between The London School of Hygiene and Tropical Medicine (LSHTM) and St. George’s University of London (SGUL)

Subsequently applications can be made by following the instructions on the MRC-LID site at http://mrc-lid.lshtm.ac.uk/apply/.

Please click on the following link for more information about the MRC-LID programme: http://mrc-lid.lshtm.ac.uk/

For more information on funding please go to: http://mrc-lid.lshtm.ac.uk/faqs/

The deadline for applications is Wednesday 1 January 2020.




Funding Notes

To be eligible for a full studentship award applicants must
(a) hold, or expect to obtain before September 2020, a 1st or 2.1 Honours degree (as a minimum), and
(b) be a UK or EU citizen, and
(c) have maintained ordinary residence in the UK continuously for the 3 years preceding 1 September 2020.

To be eligible for a fees-only studentship award applicants must
(a) hold, or expect to obtain before September 2020, a 1st or 2.1 Honours degree (as a minimum), and
(b) be a UK or EU citizen.

References

For more information about the group and relevant publications you can take a look at our website:

https://www.genomemed.org

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