Research round-up: Fight for Sight funded studies published in major scientific journals

06 August 20

written by:

Róisín Treacy

(more articles)

A genome against a black background.

Although access to labs has been significantly reduced as a result of the Covid-19 pandemic, our researchers have kept busy during lockdown by writing up the findings of their research studies for publication, an important step in any research project. Here are just a couple of Fight for Sight funded research projects which have been published in major scientific journals in the past few weeks:

Study gives treatment hope to patients with previously unidentified causes of rare disease

A research study has enabled the correct diagnosis - and therefore treatment if available – of over a thousand rare diseases in people whose exact condition was previously unknown, in results published in Nature last month.

In this study, researchers used whole-genome sequencing (WGS) – a comprehensive method for analysing the entire DNA – of NIHR Bioresource participants to streamline diagnosis and to discover unknown genetic causes of different diseases, including rare eye diseases. WGS enables researchers to pick out all the differences in a human genome that stray from the norm to determine which is causing the disease.

By generating the data for this study, researchers found the cause of disease in 1138 of the 7065 participants including four novel mutation mechanisms that can explain the cause of some rare diseases.

Most patients with rare inherited retinal disease do not currently receive a molecular diagnosis – a collection of tests that are used to check for specific changes in a gene or chromosome that cause a condition - which can exclude them from new treatments as they become available. 

Fight for Sight Senior Research Fellow, Dr Gavin Arno who was involved in this study, explains: “This is a huge step forward for people with rare diseases as it means they can now put a name to their condition. It also gives hope that patients can access treatments if and when they become available, as to be eligible for any new treatment, they must have a molecular diagnosis. However, there is still much to be done, as currently there are about 300 genes that are known to cause retinal disease and all the diagnostics up until now have been focusing on the coding regions of these. These account for only 40-60 percent of all diagnosed genetic retinal diseases. As part of my research, my team and I are looking for other genes and genomic regions that may be causing the retinal disease. By finding these previously undiscovered mutations, we can ensure that patients with inherited retinal disease get a diagnosis much more easily in future and can avail of new and emerging treatments.”

Study proves treatment for eye disease related to diabetes is having a positive result for patients 

A research study part funded by Fight for Sight has proven that an existing treatment for an eye disease linked to diabetes is having positive results for patients with the condition, in results published in scientific journal Eye at the end of June.

The condition, called diabetic macular oedema leads to blood vessels near to the macula - the part of the eye that helps to provide us with our central vision – to leak fluid or protein onto the macula causing damage. It can be treated by laser surgery or with injections of a type of drug known as anti-vascular endothelial growth factor (VEGF).

In what is the largest single-hospital study of this treatment to date, the group of researchers from the UK, Germany and Austria hoped to evaluate the visual acuity (clearness of vision) outcomes for people with diabetic macular oedema who are being treated with anti-VEGF drugs.

Researchers retrospectively studied the medical records of 1,964 patients undergoing the treatment between March 2013 and October 2018. They found that half of patients had positive vision outcomes within the first two months of starting the treatment.

Fight for Sight funded researcher and consultant ophthalmologist from UCL Institute of Ophthalmology, Dr Pearse Keane said: “A major feature of this work is that we have made the underlying data available “open-source” to the research community. This will allow other researchers around the world to check our findings but also, hopefully, to answer their own, novel research questions. By making data openly available in this manner, we hope to stimulate further breakthroughs in our understanding and treatment of diabetic eye disease”.

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