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2020 NIHR ACF PES Bristol Platform Science and Bioinformatics 2

 

Contents

2020 NIHR Academic Clinical Fellowship in Priority Research Themes

HEE Local Office: South West
Medical School: University of Bristol
Research Theme: Platform Science and Bioinformatics
Specialty Options: Ophthalmology

Plain English Summary

The NIHR priority theme Platform Science and Bioinformatics embraces a wide range of exciting and technology-driven advances in medical science.  The translational potential for these technologies to influence patient care cannot be illustrated better than the applications to ophthalmology.  Advances in eye genetics have led the way in furthering our understanding of fundamental genetics applied to human diseases:  from the first descriptions of eye diseases caused by single gene mutations, like retinitis pigmentosa; to the discovery of multiple variations in our normal DNA which predispose us to eye disease, e.g variants of complement factor H which predispose to age-related macular degeneration.  We now have sophisticated technologies and platforms for high throughput DNA and protein sequencing coupled with bioinformatic analyses.  These technological advances have paved the way to using genomics, transcriptomics, metabolomics and proteomics integrated into ophthalmology clinical care to improve diagnosis, identify therapeutic targets, monitor disease progression and response to treatment.

This ACF post will join the highly successful integrated academic training programme in ophthalmology in Bristol and will be attractive to those who have an interest and research plan to address important issues related to Platform Science and Bioinformatics in Ophthalmology.  The University of Bristol has well-established links with Clinical Ophthalmology at the Bristol Eye Hospital. It hosts the MRC-funded Integrative Epidemiology Unit, a major centre for genetic epidemiology with international expertise in classical, genetic and epigenetic epidemiology, metabolomics and trans-generational research.  Moreover, the University is well equipped for high-throughput DNA and protein sequencing, advanced computing and bioinformatics.

The ACF will benefit from the interdisciplinarity of established research groups and consortia in genomics devoted to investigating the factors that lead to human traits and disease at a population level, e.g. Avon Longitudinal Study of Parents and Children (ALSPAC) and the Eye and Vision Consortium of the UK Biobank, as well as genome-wide association study (GWAS) of common ophthalmic disorders such as myopia and glaucoma.  Moreover, established research groups in paediatric ophthalmology, intraocular inflammation, glaucoma, neurodevelopment and neurodegeneration have developed cross-disciplinary collaborations which allow innovative research studies to develop.  Previous collaborations include those with the patients, general public and even with local artists to develop novel ways to communicate science to the public through art.  The wide-ranging clinical and scientific expertise available in Bristol in disorders affecting vision means the ACF will benefit from a broader perspective than available elsewhere, to offer new insights into the "omics" of ophthalmic disorders.