Supporting the pioneering work
Supporting Research and Treatment for Developmental Eye Anomalies
The birth of a child with developmental eye anomalies can be devastating for families, bringing heartbreak, isolation, and fear. Every year, thousands of families face questions about their children’s visual limitations, potential recurrence in future offspring, and other complicating medical conditions associated with the eye anomalies. Historically, answers and resources for these families have been extremely limited.
Over the past two decades, this has begun to change thanks to the pioneering efforts of Professor Nicky Ragge and her colleagues and research team in Oxford Brookes University. They have begun to unlock the genetic basis of many eye anomalies, and have provided countless families with support, answers, and hope. The acceleration of their research, and the concurrent optimization of care for families, now depends on securing needed resources.
Vision for GoOD Campaign
The Vision for GoOD campaign aims to support the ongoing development of world-leading genetic eye research, and ensure that affected families have access to comprehensive and consolidated care centered on the individual and their family.
This critical moment in the eye genetics research journey builds on two decades of breakthroughs by Professor Ragge, who has unearthed genetic issues at the root of these anomalies and initiated a consolidated approach among clinical specialists.
A History of Breakthough Research
Initially, the cause of these conditions was thought to be largely environmental; however, on studying families affected by developmental eye anomalies, Professor Ragge suspected genetic factors.
In 2003, a breakthrough occurred when Professor Ragge and a group of scientists identified a mutation in the SOX2 gene in a cohort of patients with bilateral severe eye anomalies.
This finding linked developmental eye anomalies to genetics and became the foundation of her research program. By 2004, Dr. Ragge had obtained a grant that funded her work up until 2010, identifying additional genes and characterising new conditions whilst developing a new model of clinical care with a multidisciplinary approach for patients and their families.
Holistic Model of Care
Professor Ragge's new holistic model of care enabled families to interact regularly and access specialists in various fields, including optometry, orthoptics, prosthetics, vision support, reconstructive surgery, genetics, and social support. She also raised funds to assist families in visiting the clinic, creating a sense of community and support that innovatively melded scientific research, diagnostics and patient care.
Since 2011, Professor Ragge has continued her work at Oxford Brookes University, expanding her cohort to 470 families and identifying six additional genes related to developmental eye anomalies and contributing to the characterisation of many other eye genetic conditions. She has pioneered rapid testing techniques, including panel gene testing, which is now translated into UK whole genome testing, and now optical genome mapping, and uses animal model systems to understand genetic changes.
The GoOD Research group at Oxford Brookes University
Despite these advances, securing funding for this comprehensive approach has been challenging. The GoOD Research group at Oxford Brookes aims to address this, and links with the worldwide Genetics of Ocular Development (GoOD) Network. This grouping of expertise brings together clinicians and research scientists to provide comprehensive strategies and care for families. It coordinates efforts of leading scientists and clinicians for genetic research advancement, rapid diagnosis, therapies, and family care.
Capital Campaign
The Vision For GoOD Campaign builds on previous significant funding and is seeking to sustain genetic research and accelerate pathways to understanding and treating developmental eye anomalies, while concurrently elevating care for those currently affected.
Developmental eye anomalies affect one in 3,500 births in the UK, often associated with other systemic conditions. While today many with these conditions eventually secure fulfilling lives, families face fragmented care and lack insight into the anomalies or their recurrence risk. Despite progress, the time taken to achieve a diagnostic outcome can be slow, sometimes years. Reliable funding and a physical colocation of scientific and clinical specialties are very beneficial for optimum progress.
Our immediate goal is to provide essential support, for the next five years, for professional staff, research while our long-term ambition (£17 million campaign) is to create a state-of-the art facility colocating our research and our services to families in a fully resourced way.
Future Prospects
The GoOD Research group at Oxford Brookes links with the GoOD Network around the world. Together we aim to accelerate breakthroughs in understanding and treating genetic eye disorders. Genetic diagnosis can determine recurrence likelihood in future pregnancies and provide accurate prenatal or pre-implantation genetic diagnosis options. Future advances may include improved prenatal imaging and noninvasive DNA testing of pregnancies.
The GoOD Research group at Oxford Brookes works to be at the forefront of understanding and treating developmental eye anomalies. We will pursue with determination and passion our dream of rapidly diagnosing and treating these anomalies at—or before—birth … advancing genetic knowledge to lead to sight-saving treatments and potentially reducing or someday eradicating developmental eye anomalies.
We would welcome you considering supporting our journey and the important mission and vision that underlie it.