The Hazel Satchell Studentship

Supervisors: Prof Patrick Chinnery: Clinical Neurosciences and the MRC Mitochondrial Biology Unit Prof Evan Reid: Medical Genetics and the Cambridge Institute for Medical Research

This is an exciting opportunity for PhD study under the joint supervision of Professor Patrick Chinnery in Clinical Neurosciences and the MRC Mitochondrial Biology Unit and Professor Evan Reid in Medical Genetics and the Cambridge Institute for Medical Research .The successful applicant's study will overlap with the interests of both research groups and they will work between both groups while being part of vibrant and exciting Cambridge community of researchers.

Project description

Mitochondrial Mechanisms in Hereditary Spastic Paraplegia Type 7 (PhD only, full time)

Hereditary spastic paraplegia (HSP) is a genetic disorder which causes progressive leg stiffness which ultimately prevents walking and has no cure. Autosomal recessive mutations in the gene SPG7 are a common cause of HSP, but it is not known how they cause the progressive disability. Preliminary evidence suggests that people with SPG7 collect mutations affecting their mitochondrial DNA (mtDNA) during life. This affects the function of nerve and muscle cells and contributes to the clinical problems that patients experience. This project aims to determine whether the loss of the SPG7 protein causes mtDNA mutations in human i3 neurons generated in the laboratory. The student will develop laboratory and computational skills to harness state-of-the-art single cell sequencing and transcriptomic analysis, and study the effects of the mutations on nerve cell function, and particularly whether the mutations cause nerve cells to die early. If this is the case, we will look for mechanisms that slow down the accumulation of the mutations by systematically removing (knocking out) genes that might be relevant by gene editing. This will lead to the identification of drug targets which we will test using panels of drugs (small molecule libraries). The ultimate aim is to find new treatments that slow down the progression of SPG7-HSP and may reverse the condition over time.

Funding:

This studentship includes 3.5 years of PhD study under the Hazel Satchell Studentship. This fully funded studentship which starts 1 October 2023, includes 3.5 years stipend at MRC rate of £17,668.00 and College Fees for a Home student.

Eligibility:

Home/UK resident students are eligible to apply. Applicants for this course should have achieved a UK Good II.i Honours Degree

Please apply using the University Applicant Portal link below and click "Apply Now" selecting Professor Chinnery & Professor Reid as supervisors and Michaelmas 2023 as the start term. https: // www. postgraduate.study.cam.ac.uk/courses/directory/cvcnpdpcn

To complete your on-line application, you need to provide the following:

Reference Request: The names and contact details of two academic referees who have agreed to act on your behalf.

Supporting Document: Please upload your CV (PDF file), which should include a list of the examinations taken at undergraduate level and if possible, your examination results.

Closing date 1 December 2022

Interview date w/c 9th January 2023

Any queries re the application process please contact the Education team on [email protected] .

Please quote reference ZE34357 on your application and in any correspondence about this vacancy.

The University actively supports equality, diversity and inclusion and encourages applications from all sections of society.

The University has a responsibility to ensure that all employees are eligible to live and work in the UK.

Department of Clinical Neurosciences

ZE34357

Studentships

24 November 2022

1 December 2022