- 10,000 patients from 47 countries have received genetic testing in Manchester.
- The diagnostic rate for inherited retinal disease has increased from <15% to 80% (2012–2020).
- Genetic testing and gene therapy for inherited eye diseases are now available on the NHS.
Limited access to diagnosis and treatment
Professor Graeme Black
Graeme Black is Professor of Genetics and Ophthalmology at The University of Manchester.
Inherited eye diseases are the leading cause of blindness in British children and working-age adults.
Before 2012, less than 15% of people with an inherited eye disease had access to the detailed genetic testing required to determine the cause of their disease.
This left affected families having to wait years before receiving a precise diagnosis and with limited options for treatment.
Our research into the genetic causes of blindness has revolutionised clinical practice and is driving the development of innovative new treatments to benefit patients across the globe.
Understanding genetic causes of blindness
Over the past 25 years, Professor Graeme Black and colleagues have made a significant contribution to understanding, diagnosing and treating many forms of inherited blindness.
They have identified more than 30 disease-causing genes, developed state-of-the-art next-generation sequencing genetic testing for ophthalmology, and contributed to landmark clinical trials of gene therapies for eye diseases.
Translating lab discoveries into improved care
The researchers’ discoveries of genes associated with inherited eye diseases have led to the development of more than 100 genetic tests, transforming care for patients worldwide through access to faster and more precise diagnoses and tailored genetic counselling.
For example, the number of patients receiving a genetic diagnosis for inherited retinal disease increased to around 80% in 2020 (less than 15% before 2012).
To date, approximately 10,000 patients from 47 countries have received genetic testing for their inherited eye disease in Manchester.
Working with patients, for patients
“The work carried out by Manchester has made a significant contribution to opening up choices for our community.”
Researchers have worked with patient and professional organisations including Retina UK and the Royal College of Ophthalmologists to increase awareness of the broader benefits of genetic testing.
This has changed how these patients are cared for in the UK and abroad.
In 2018, NHS England established seven Genomic Laboratory Hubs, including one in the north-west led by Manchester University NHS Foundation Trust, and began funding genetic testing for inherited eye diseases.
Transforming care for patients worldwide
The Manchester care pathway has been replicated internationally, meaning that thousands of patients worldwide now receive expert care faster than before.
The University’s research into genetic eye diseases continues to benefit patients globally via the North West Genomic Laboratory Hub and our role as workgroup leader of the European Reference Network on Rare Eye Diseases (ERN-EYE).
Driving innovation in gene therapy
The University continues to work at the forefront of developing and delivering gene-based treatments for inherited eye diseases.
In 2019, the team established the first ophthalmic gene therapy centre in the north of England, helping patients to benefit from gene-based treatments delivered as standard NHS care.
Beyond the clinic, Manchester researchers have formed a spin-out company, Complement Therapeutics Ltd, to develop the next generation of innovative therapies, including for age-related macular degeneration, the UK’s leading cause of blindness.
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- A paradigm shift in the delivery of services for diagnosis of inherited retinal disease (open access article)
- Clinical utility of genetic testing in 202 pre-school children with inherited eye disorders (open access article)