Inherited retinal diseases cause progressive sight loss, but many people never discover the genetic cause of their condition. Thanks to funding from Fight For Sight, Dr Gavin Arno’s discoveries have given families answers and hope for the future.
Inherited retinal diseases cause progressive sight loss, but many people never discover the genetic cause of their condition. Thanks to funding from Fight For Sight, Dr Gavin Arno’s discoveries have given families answers and hope for the future.
Inherited retinal diseases are a diverse group of conditions that can present from birth or develop later in life and typically lead to progressive vision loss.
Because these diseases run in families, there is great interest in understanding the genetic variations that cause them, which are passed down from parent to child.
When Dr Gavin Arno joined UCL’s Institute of Ophthalmology in 2012, he was part of Prof Tony Moore’s team, which identified many mutations linked to inherited retinal diseases. Most of these mutations were found in genes, sections of the DNA code that provide instructions to make proteins.
However, Gavin was sure there were more variations in the 98% of the DNA code that isn’t part of a gene.
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A unique position to be in
Fortunately, the perfect opportunity to find these genetic variations appeared. Two projects—the NIHR BioResource Rare Disease Project and the 100,000 Genomes Project—were reading the whole genetic code of thousands of people with rare conditions, including people with inherited retinal disease.
Combining this data with the skills and experience he had already accrued from his earlier work, Gavin successfully applied for an Early Career Fellowship from Fight For Sight.
“It was a unique position to be in at the time,” he recalls. “Having access to that data meant that we could really explore all these different kinds of mechanisms of disease.”
Using the data from the NIHR BioResource and the 100,000 Genomes Project, Gavin and his team have made a huge contribution to the genetics of inherited retinal diseases.
This included the discovery of new variations, both within genes and in other regions that control their activity.
Thanks to his work, many patients and families received a diagnosis that had eluded them before.
“We hear a lot from patients how important that is to them – just being able to put a gene name to their disease is therapeutic.”
Gavin said: “That’s essentially what the aim of all my work is about – to feed that data back to the clinic and back to the patients and the families and to provide them with that molecular diagnosis.”
He added: “We hear a lot from patients how important that is to them – just being able to put a gene name to their disease is therapeutic in itself.”
New genetic discoveries
Another crucial part of Gavin’s Fellowship was lab work to describe the role these mutations had—in effect, linking the mutation to the altered function of the gene and to the disease. This knowledge could lead to new treatments in the future.
In addition, Gavin tested new technology that could read parts of the genome that scientists had previously found difficult. This would allow more mutations to be found in regions of the DNA, like the X chromosome, which is linked to inherited retinal disease in boys, such as X-linked retinopathy and blue cone monochromacy.
Making a real difference
Gavin is now applying his experience in clinical genetics as the senior scientist in the genetics department at Moorfields Eye Hospital. In this role, Gavin integrates the latest evidence and techniques into clinical diagnosis at Moorfields and works closely with diagnostic teams all over the UK to do the same.
As well as his clinical role at Moorfields, Gavin holds research positions at both the Institute of Ophthalmology and Great Ormond Street Hospital Biomedical Research Centre. As a result, he feels he’s in a privileged position to make a real difference for people with inherited retinal disease – which he puts down to the Fight For Sight Fellowship.
It’s not project-driven. It’s researcher-driven.
It is picking out those people who have the promise to become global leaders in their chosen field, and funding that step in their career, giving them the freedom to develop those ideas.
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