A multi-omics approach to eye tissue characterisation in keratoconus & Fuch’s dystrophy patients

  • Grant holder: Professor Malcolm Walkinshaw, Director of the Centre for Translational and Chemical Biology, and PhD student Lisa Imrie
  • Institution: University of Edinburgh
  • Grant award: £66,500
  • Start date: October 2020
  • End date: September 2023

Why is this research needed?

Keratoconus and Fuch’s endothelial corneal dystrophy (FECD) are two of the most common conditions affecting the cornea.

FECD is a common, age-related, disease of the cornea, which is estimated to affect more than 4% of individuals over 40 years of age (that’s over 1.2 million in the UK).

The cornea is the transparent tissue at the very front of the eye. It protects the eye from the external environment (dust, germs, UV rays), and focuses light onto the retina. FECD causes the rapid loss of specialised endothelial cells, which control the flow of fluids and nutrients in and out of the cornea. These endothelial cells perform a pump-like action, removing water from the outer layers of the cornea, which, if left to accumulate, cause corneal swelling and clouding - leading to vison loss or blindness.

Keratoconus is a progressive condition occurring mostly in teenagers/adults in their 20s. It is characterised by corneal thinning and protrusion resulting in a cone shape. This can cause blurred vision, near sightedness, and astigmatism.

The cause of keratoconus is unknown, but is thought to involve both genetic and environmental factors. 

The only available treatment for both keratoconus and FECD is corneal transplantation surgery which is not effective for every patient.

What is the aim of the research?

A multi-omics approach will allow the examination of different eye tissues as a possible source of information relating to the progression of these two diseases. There is access to a collection of  over 3000 samples from patients with either keratoconus or FECD that have been enrolled in the EU funded Visicort project. Different eye tissues are stored and linked to a clinical database with detailed information about each patient.

Recent proteomics/metabolomics/lipidomics research has significantly improved our understanding of eye tissue composition, however no effort has been made to combine the data from these single analyses. We will develop extraction methods that will allow, for the first time, accurate omics results from a single patient. The protein/metabolite/lipid signatures available for each sample will provide a unique and detailed biochemical link to the clinical data.

How will this research help to beat sight loss faster?

This is an innovative project using novel techniques to study two corneal conditions and will draw upon the network of clinical/scientific experts in the field that has already been established through the Visicort project. In the course of this project we will identify new targets for therapeutic approaches and future clinical trials.

Further information

Find out more about keratoconus and Fuch's dystrophy

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