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PhD studentship - Modifier genes and therapeutics development for Joubert syndrome

Project Description

Number of awards

Start date and duration
October 2020 for 3 years

This PhD project will provide comprehensive training at the cutting-edge of rare genetic disease research, under the supervision of John Sayer (Clinical Professor of Renal Medicine), Heather Cordell (Professor of Statistical Genetics) and Colin Miles (Senior Lecturer in Mammalian Genetics) in Newcastle University.

Working closely with patients, collaborating internationally, and developing bespoke models, the team have begun to unravel the complexity of the inherited ciliopathy Joubert syndrome in unprecedented detail providing insights that can be exploited to develop novel therapeutics.

In this PhD, bioinformatics and statistical analyses will be applied to investigate additional underlying genetic interactions in larger cohorts of patients that carry different causative mutations of Joubert syndrome. In parallel, state-of-the art genetic therapies will be developed that exploit our discovery of a modifier gene in Joubert syndrome and tested on patient cells, using a novel CRISPR-Cas9 based strategy to modulate gene expression to ameliorate disease severity.

Faculty of Medical Sciences, Newcastle University

Name of supervisor(s)
Professor John Sayer -
Professor Heather Cordell -
Dr Colin Miles -

Eligibility Criteria
This studentship is open to UK, EU and international applicants.
The minimum entry requirement is a 2:1 honours degree, or international equivalent. A Master’s level qualification or additional research experience would be beneficial.
If English is not your first language, you will need to meet the following English Language requirements: IELTS 6.5 overall (with a minimum of 5.5 in all other sub-skills).

How to apply
You must apply through the University’s online postgraduate application system ( by creating an account. To do this please select ‘How to Apply’ and choose the ‘Apply now’ button.
All relevant fields should be completed, but fields marked with a red asterisk must be completed. The following information will help us to process your application. You will need to:
• click on programme of study
• insert 8300F* in the programme code section and click search
• select Programme name ‘PhD in the Faculty of Medical Sciences (full time) - Biosciences’
• insert tc009 studentship code in the studentship/partnership reference field
• attach a covering letter and CV. The covering letter must state the title of the studentship, quote reference code tc009 and state how your interests and experience relate to the project
• attach degree transcripts** and certificates and, if English is not your first language, a copy of your English language qualification.
**You will not be able to submit your application until you have submitted your degree transcript/s.

* The online application system will only allow one application using the programme code 8300F. If you are applying for TWO or more projects using that code then you will need to email our Postgraduate Admissions Service () with the following information:
• your application number (from the first project application that you submitted online)
• the second studentship code and its corresponding title
• a two page covering letter for the second project.
Our Postgraduate Admissions Service will then forward this information to the relevant selector in the Faculty of Medical Sciences.

For more information you should contact or

Funding Notes

100% of UK/EU tuition fees, annual living expenses at the UKRI rate (£15,285 for 2020/21 entry) and additional funding to cover research costs and local, national and international travel (conferences and exchanges). Successful international candidates will be required to make up the difference between the UK/EU fees and international fees.

Related Subjects

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