- Vacancy Reference Number
- 2017-IGMM-001
- Closing Date
- 8 Sep 2017
- Salary
- annual tax-free stipend of £17,500, increasing to £18,000 over the four years
- Address
- University of Edinburgh
- Duration
- 4 years
This project is one of 11 four year PhD Studentships funded by Medical Research Scotland (http://www.medicalresearchscotland.org.uk) to be delivered jointly by the named University and Company. The Studentship will provide the first-class academic and commercial training needed to equip the successful candidate for a science career in an increasingly competitive market.
"Generation of a mouse model of genetic early onset epilepsy and in cage monitoring of seizure activity" to be delivered by the University of Edinburgh [Supervisors: Professor Cathy Abbott (Centre for Genomic and Experimental Medicine) and Professor Douglas Armstrong (School of Informatics)] and Actual Analytics (http://www.actualanalytics.com/) [Company supervisor: Dr Rowland Sillitto].
Early onset epilepsy represents a significant disease management challenge; it is frequently co-morbid with intellectual disability (ID) and autism, and often drug-resistant. Genome sequencing has allowed us to identify new genes that are mutated in children, causing their epilepsy. One such gene is neuronal translation elongation factor eEF1A2; missense mutations in this gene have recently been shown to cause severe epilepsy, ID and autism, likely via an impact on synaptic translation. However, if we are ever to be able to come up with new, rationally designed, treatments for these children, we need to be able to model the condition in the lab. We have used CRISPR/Cas9 genome editing to create mice with the same missense mutations in eEF1A2, many of which had fatal seizures or sudden/unexplained deaths. This project will involve the generation of additional models and will address the need for novel models of epilepsy and autism in which spontaneous seizures can be monitored effectively and with minimal stress to the animal.
The successful applicant will create new mouse models of neurodevelopmental disorders using CRISPR/Cas9 gene editing, and help to develop in cage monitoring of seizures. Data will be collected and analysed from the same models for associated phenotypes, such as sleep/wake cycles and general behavioural patterns. In parallel, the student will generate and analyse proteomic datasets from the new model mice to map networks of synaptic proteins, to analyse the effects of eEF1A2 mutations and generate new biomarkers.
The student will receive an unusually broad but fully integrated training in the use of genome editing to create novel mouse models of neurodevelopmental disorders, behavioural phenotyping, proteomics, and in systems data analysis.
Further Information
Applications
Applicants must have obtained, or expect to obtain, a minimum 2.1 undergraduate degree in a relevant biological discipline, or equivalent for degrees obtained outside the UK. Previous experience in data analysis is helpful, but not essential as training will be provided.
Applicants should send an up-to-date CV, the contact details of 2 academic references (including email addresses) and a covering letter, explaining why they wish to carry out this project, by email to Professor Cathy Abbott: C.Abbott@ed.ac.uk
Interviews are expected to take place approximately 3-4 weeks after the closing date for applications.
It is anticipated that the PhD Studentship will start in December 2017.
Funding Notes
The PhD Studentship provides: an annual tax-free stipend of £17,500, increasing to £18,000 over the four years; tuition fees at UK/EU rates only; consumables; and contribution to travel expenses. International fees are not covered.
References
http://www.ed.ac.uk/centre-genomic-medicine/research-groups/abbott-group http://homepages.inf.ed.ac.uk/jda/
Contact Details
Enquiries should be sent by email to Professor Cathy Abbott: C.Abbott@ed.ac.uk
