This year, eye genetics research at Oxford Brookes University has received a gift of £2 million from investment business Baillie Gifford. The pledge supports the work of Professor Nicola Ragge who has spearheaded a national eye genetics service and led pioneering research into eye development problems in children.
Specialising in cases where babies are born with missing eyes (anophthalmia), or very small eyes (microphthalmia), Professor Ragge leads a research team which is investigating the genetic codes of this complex organ.
It is estimated that these conditions affect around 1 in 3,500 babies each year and these conditions account for around a quarter of childhood blindness worldwide.
Research is moving forward fast
Using advanced genetics technology, the researchers are developing an intricate understanding of the eye, investigating techniques which speed up the diagnosis of developmental problems and discovering treatments for genetic anomalies.
Professor Ragge has worked with many families across the UK who have had babies born with anophthalmia, microphthalmia, or coloboma (a condition which affects the development of one or more layers in the eye, leading to a keyhole shaped iris, or a missing part of the retina).
“There is so much that we are still to discover about the eye and its intricate genetic puzzle,” says Professor Ragge. “Our research is moving forward fast and as we discover more about genetic networks of the eye, we can diagnose problems quickly, giving families the right advice and support, and potentially enable treatments to start sooner. This can be life-changing for babies and their families.”
Claire Croft agrees: “As a parent, no one can teach you how to bring up a child who has no eyes. You learn and find out as you go along,” she says.
“As a parent, no one can teach you how to bring up a child who has no eyes. You learn and find out as you go along”
Claire met Professor Ragge shortly after her son George was born with both of his eyes missing. Their first ophthalmologist advised that unfortunately nothing could be done to help with their son’s sight and an MRI confirmed that George’s condition was bilateral anophthalmia. It was the first time Claire had ever heard of the condition and she says that she and her husband were not prepared at all, but thought that there must be something that could be done to help their son see.
Providing a genetic diagnosis
The family accepted George’s condition, but with so many unanswered questions, began researching the condition. Within a few days, the family came across Professor Ragge’s work. At their first appointment, Professor Ragge suspected one particular gene to be the cause of George’s condition. Testing confirmed Professor Ragge’s suspicions; George had genetic alterations affecting both copies of his STRA6 gene. Alterations to this gene are rare and can result in heart conditions, smaller kidneys and no eyes.
“we’ll be able to inform George about his choices in the future when it comes to having children of his own”
Claire and her husband James, were also genetically tested, along with their parents. Both Claire and her husband were found to be recessive carriers of the gene mutation, inherited from both of their fathers.
Receiving the genetic diagnosis gave the family the peace of mind that they couldn’t have prevented it happening:
“We felt relieved to finally have a genetic diagnosis and a full understanding of how George’s condition came about,” says Claire. “Knowledge really is power and it meant that we’ve been able to make decisions about our own lives and we’ll be able to inform George about his choices in the future when it comes to having children of his own.”
Understanding more about the condition
The family have been referred back to Professor Ragge’s team each time George had health issues which needed investigating, so that the research team could determine whether or not a particular issue was linked to the genetic condition. This has helped the research team understand more about how the condition affects children as they grow.
“If we are able to help people learn more and give others peace of mind, then that is the right thing to do”
“For us, it’s a two-way relationship. I feel a responsibility to keep Nicky informed about George’s health if it will help further the research and understanding of the condition,” says Claire.
“We are lucky that George is able to live a normal life but that may not be the case for others. For us the journey doesn’t stop there. If we are able to help people learn more, and give others the peace of mind that we’ve had by this knowledge, then that is the right thing to do.”
The Baillie Gifford Chair of Developmental Eye Genetics
Baillie Gifford’s donation establishes the Baillie Gifford Chair of Developmental Eye Genetics and builds on an existing relationship with Baillie Gifford, which has been supporting Professor Ragge’s research at Oxford Brookes University for the last seven years.
“We have supported Professor Ragge and her team for several years now, as part of our programme of academic research sponsorship,” says Nick Thomas, partner of Baillie Gifford & Co. “It has been a pleasure to be involved with her ground-breaking, collaborative work and to learn from her talented group of colleagues. The progress they are making continues to inspire us.”
Words by Natalie Gidley