Background:
Our group has previously worked with a cohort of Inherited Retinal Disease (IRD) patients to document clinical signs and functional vision via the Retinitis Pigmentosa Severity Assessment Scale (RPSAS) project. These data are currently being updated and expanded to include all progressive IRDs in the All-Ireland Retinal Degenerations Partnership (AIRDP) Target 5000 project. These longitudinal data have informed the creation of a comprehensive regional dataset which includes the description and imaging of clinical signs, reported symptoms, and measures of visual function at various timepoints. A valuable resource now exists for retrospective analysis to extensively describe the phenotype, typical presentation and progression of each patient using a predefined list of descriptors, enabling scoring proportionate to severity.
Aims:
This project will provide detailed characterisation of disease phenotype and natural history of IRD, and the creation of a novel clinical phenotypic algorithm to produce Prognostic Progression Predictor (PPP) and Severity Scores (SS).
Methods:
Data will be collated for each diagnosis and scaled for disease duration to characterise disease and natural history. The data will be analysed for correlation with inheritance pattern and genotype where available. A phenotypic grading scale and classification tool will be designed based on the presence and severity of identified clinical signs and reduction in visual function. Once corrected for weighting and assessed for reliability and validity, this will form the basis of an algorithm capable of generating a prognostic progression predictor score. A severity score based on deviation from age-matched normal controls will also be constructed.
Benefits:
We hypothesise that outputs from this algorithm will correlate with inheritance pattern and genetic mutation, thereby predicting disease progression over time. These data could also be used to quantify severity of progression relative to natural history, constructing a severity score to serve as an evidence-base and clinical end-point to evaluate potential therapeutic interventions for these devastating conditions.
Please note, the successful candidate will be required to obtain AccessNI clearance prior to registration due to the nature of the project.
Applicants should hold, or expect to obtain, a First or Upper Second Class Honours Degree in a subject relevant to the proposed area of study.
We may also consider applications from those who hold equivalent qualifications, for example, a Lower Second Class Honours Degree plus a Master’s Degree with Distinction.
In exceptional circumstances, the University may consider a portfolio of evidence from applicants who have appropriate professional experience which is equivalent to the learning outcomes of an Honours degree in lieu of academic qualifications.
If the University receives a large number of applicants for the project, the following desirable criteria may be applied to shortlist applicants for interview.
The University offers the following levels of support:
The following scholarship options are available to applicants worldwide:
These scholarships will cover full-time PhD tuition fees for three years (subject to satisfactory academic performance) and will provide a £900 per annum research training support grant (RTSG) to help support the PhD researcher.
Applicants who already hold a doctoral degree or who have been registered on a programme of research leading to the award of a doctoral degree on a full-time basis for more than one year (or part-time equivalent) are NOT eligible to apply for an award.
Please note: you will automatically be entered into the competition for the Full Award, unless you state otherwise in your application.
The scholarship will cover tuition fees at the Home rate and a maintenance allowance of £19,000 (tbc) per annum for three years (subject to satisfactory academic performance).
This scholarship also comes with £900 per annum for three years as a research training support grant (RTSG) allocation to help support the PhD researcher.
Due consideration should be given to financing your studies. Further information on cost of living
Submission deadline
Friday 7 February 2020
12:00AM
Interview Date
9 to 20 March 2020
Preferred student start date
Mid September 2020
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