Motor Neuron Disease (MND) is a progressive neurological condition causing weakness. In around 20% there is an identifiable genetic cause. The relatives of people affected by a genetic form of MND may wish to have a genetic test to see if they are going to develop MND or not. This is called predictive genetic testing. Predictive genetic testing is well established for other neurological diseases such as Huntington’s disease, but is less well established for MND. There is a formal guideline for predictive genetic testing in Huntington’s disease, but no similar document for MND. In this project, the student will gather evidence to support the development of a guideline for genetic testing in MND. 1. A systematic review will be conducted to identify current evidence for best practice for predictive genetic testing in neurogenetic conditions. 2. A survey of United Kingdom Clinical Genetics centres will be undertaken to identify current practice for MND predictive genetic testing. 3. A mixed methods study (survey, focus groups) will be conducted to identify the opinions of stakeholders (MND patients, relatives and MND clinicians) on how predictive testing should be offered for MND. A guideline document will be produced based upon the evidence gathered during the PhD project. This document will be reviewed by expert groups and modified in an iterative manner to develop a final guideline. The student will receive formal training in systematic review methodology, qualitative methodology (thematic analysis), quantitative methodology (surveys) and generic research training. This project will result in several peer reviewed publications and presentations at conferences.
Entry Requirements:
Candidates must have a first or upper second class honours degree or significant research experience.
How to apply:
Please complete a University Postgraduate Research Application form available here: https://www.sheffield.ac.uk/postgraduate/phd/apply/applying
Please clearly state the prospective main supervisor in the respective box and select School of Medicine & Population Health (Neuroscience) as the department.
Enquiries:
Interested candidates should in the first instance contact Dr Alisdair McNeill ([Email Address Removed]).
Proposed start date - October 2023
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