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Utilizing whole genome sequencing to revolutionize diagnosis of neurological disorders

Project Description

Despite significant advances of molecular diagnostics of genetic diseases, a large proportion of patients remain without a specific diagnosis. Whole-genome sequencing is helping to bridge this gap, but it has not routinely been applied in large scale, which is hampering the advance.

This project provides an unprecedented opportunity to utilize The Genomics England 100,000 genomes for the student to uncover the genetic causes of neurological diseases, focusing on mitochondrial diseases. The work will address an unmet clinical need for patients lacking a specific diagnosis and advance our understanding of how neurological disease develops in the body by identifying novel disease-causing genes. To achieve these ambitious goals, the student will combine clinical, genomic and transcriptomic data from a mitochondrial disease cohort. The student will utilize computational tools to develop bioinformatic pipelines for genomic/transcriptomic data mining in order to identify novel disease genes. There will also be the opportunity to perform experiments in the laboratory to confirm pathogenicity of novel disease genes using CRISPR-Cas9 genome editing.

The student will be supervised by an interdisciplinary team at SGUL and Great Ormond Street Institute of Child Health.

Skills we expect a student to develop/acquire whilst pursuing this project
- Handling large genomic datasets
- Analysis of whole-genome and transcriptome data
- Develop custom-made bioinformatics pipelines for data analysis using R and Linux.
- Develop understanding of genetic causes of neuroloigial disease and interpretation of clinically relevant genetic variants
- Molecular biology and cell culture methods

Potential applicants are strongly encouraged to contact the supervisors to discuss project details.

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

Please click on the following link for more information about the MRC-LID programme:

For more information on funding please go to:

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 generally 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.

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