For Dr Mervyn Thomas, a career in vision research began with curiosity, unanswered questions – and a small grant that opened the door to something much bigger. Today, Mervyn is leading an ambitious eight-year research programme exploring how the fovea – a small area at the centre of the retina responsible for our sharpest vision – develops and why that process can go wrong.
His work has earned international recognition, built collaborations across the world and contributed to a transformative £2 million Wellcome Trust Career Development Award.
But the journey began more than a decade ago, with Fight for Sight.
Backing an early idea
Mervyn first became fascinated by vision during medical school, particularly by how the eye develops and its connection with the brain. His early research focused on nystagmus, a condition in which the eyes move involuntarily, and the unanswered questions surrounding its causes, diagnosis and prognosis.
At the time, genetic testing for children with nystagmus was extremely limited. Testing often meant looking at one gene at a time.
A grant of around £15,000, a collaborative grant between Fight for Sight and the Nystagmus network, enabled Mervyn and his team to explore next-generation sequencing – a technology that allows large amounts of genetic material to be analysed quickly – and develop what became the first genetic panel specifically for infantile nystagmus.
The panel allowed multiple genes associated with nystagmus to be investigated at the same time, helping researchers identify genetic changes that could provide clues about the underlying cause of the condition.
Looking back, Mervyn describes the impact of that relatively small grant as remarkable, not only for the research it enabled, but for his career.
From early research to a global network
The work opened the door to new areas of expertise and collaboration. Further Fight for Sight grants supported Mervyn's research into imaging, foveal hypoplasia and new animal models, including zebrafish.
These projects helped him build his research specialism niche and develop the expertise and preliminary evidence needed to pursue bigger questions.
His genetics research also led to national and international collaborations, including a long-running partnership with Professor Jinu Han at Yonsei University in South Korea.
For rare disease research, these collaborations are particularly valuable. Combining patient cohorts across centres can reveal insights that would be difficult to achieve from a single research group.
This growing network contributed to a major 2022 publication on foveal hypoplasia, followed by research using UK Biobank data to explore how genes influence foveal architecture.
Mervyn sees a clear thread running through this work: the early Fight for Sight grants provided the bedrock for his team, expertise and research focus.
From research to real-world impact
The impact of that early work extends beyond the laboratory.
Mervyn's research into genetic testing for infantile nystagmus contributed to advancing NHS genomic testing pathways. He and his colleagues also championed the inclusion of infantile nystagmus in the 100,000 Genomes Project.
For families, a precise molecular diagnosis can provide an explanation for a child's condition, information about inheritance and support. It can also bring relief after years of uncertainty.
That is the longer-term promise of research: turning unanswered questions into knowledge that can ultimately improve people's lives.
"The different Fight for Sight grants have really been like stepping stones through my career."
Eight years to explore the fovea
Now, Mervyn is taking the next major step in his career.
His £2 million Wellcome Trust Career Development Award will give him and his team something researchers rarely have enough of: time and stability.
Over eight years, they will investigate fundamental questions about how the fovea develops – from basic biology through to patients – while training the next generation of vision researchers.
The project, From Pigment to Pattern: Mechanisms Shaping Foveal Specialization, aims to understand why changes in pigmentation genes, including those associated with albinism, can affect foveal development.
The ambition is to uncover the molecular signals that control development, develop new models for studying the fovea and investigate whether these pathways could eventually be targeted.
This is not a promise of a treatment tomorrow. Mervyn is clear that understanding the underlying biology must come first.
But the field is moving from simply describing what has gone wrong to understanding why it has happened – and, ultimately, asking whether anything can be done about it.
A small grant can go a long way
Looking back, Mervyn is clear about the role Fight for Sight has played.
“They backed some very early ideas that really helped me build towards something much bigger.”
A £15,000 grant could never have guaranteed where that first project would lead. But it created an opportunity to test an idea, develop expertise and build the evidence needed to take the research further.
From that starting point came new collaborations, a growing research team, support for the next generation of researchers and, ultimately, a major programme investigating one of the fundamental questions in foveal development.
For Mervyn, the journey has taken him from an early-career researcher investigating infantile nystagmus to an internationally connected researcher leading an eight-year programme of work.
And the journey is far from over.
The early ideas Fight for Sight backed are now helping shape the questions of tomorrow – and, potentially, a brighter future for people affected by sight loss.
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