Vision for GoOD Research Fund

Genetics of Ocular Development

Helping to advance genetic diagnosis and care for individuals born with eye anomalies and their families

About

Our genes play a crucial role in developing our body, including the human eye. Damaging alterations to the genetic code can lead to a change in the size or shape of the eye, or in the most severe cases, the eye may be missing altogether. 

The genes that switch on human eye development at the start of life are also vital for preserving the vision in later years. This means that a better understanding of their function will help with treatments that preserve sight, or even treat visual loss.

Many of the eye genes are also critical for developing other body parts and in preventing cancer. Therefore, research in this area can help diagnose and treat other conditions too.

Early genetic diagnosis of eye anomalies is so important to allow the best start in life. Knowing about the condition allows early intervention and best management. Families can be provided with timely counselling regarding recurrence risk and options available to them, and the support needed for individuals, parents and family members to navigate the challenges they face.

Globally, Professor Ragge’s work links with a network of researchers and clinicians working collaboratively to achieve a faster genetic diagnosis. A genetic diagnosis means doctors can provide optimum treatment to more families.

By donating to the Vision for GoOD Fund, you are supporting the power of genetic research to help families affected by these disorders and to save sight. Your generosity will help our mission to advance our understanding of the genetic basis of these conditions, offer rapid diagnoses and provide counselling and psychological support to the families involved. 

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More about the research

Professor Nicola Ragge
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Birmingham Children's and Women's Hospital logo

“The birth of a child with developmental eye anomalies can be devastating for families, bringing with it uncertainties about vision, other medical complications, and possible recurrence in future offspring. Funding our eye genetics research programme is so important to help children and families affected with these conditions, not just in our programme but also worldwide. By improving early diagnosis, treatment and support, we can transform people’s lives. Our improved understanding of these genes and pathways is already leading to better understanding of genetic mechanisms, and will lead to advances in ways to prevent blindness and sight-saving therapies.”

Professor Nicola Ragge, Baillie Gifford Professor of Developmental Eye Genetics, Oxford Brookes University Consultant Geneticist, Birmingham Women’s and Children’s NHS Foundation Trust

What families have to say

"I was excited to be on board with Professor Ragge's research as I had already hit a lot of dead ends with diagnosis. As a parent of a child with a rare disease, the unknown is a huge, overwhelming part of our lives and I have spent a lot of Ruby's life looking for answers as to why she has the condition and why it happened, so I was excited to try something new and I was hopeful."

"I have known Nicky Ragge for 30 years. She has been an inspiration to us in finding out about the genetics that may have caused our son’s condition... And through her research we did! For us that was a very interesting factor because it not only impacted us, it impacted our family and our surrounding family."

"Ede being given a genetic diagnosis has been invaluable for making many important medical decisions that could have otherwise unknowingly had detrimental outcomes on all aspects of her life. .. The work [Prof Ragge and her team does] is so important and life changing." 

"Honestly, I don't believe in miracles, but the answers we received from this study has truly changed lives and given so many of us peace of mind. Thank you for everything Professor Ragge, and your incredible team!"

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