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Transforming care for people with inherited blindness

Our research into the genetic causes of blindness has revolutionised clinical practice – leading to faster, more precise diagnoses and tailored genetic counselling for thousands of patients worldwide.

Limited access to diagnosis and treatment  

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 51������. 

Working with patients, for patients 

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 51������ University NHS Foundation Trust, and began funding genetic testing for inherited eye diseases.

Transforming care for patients worldwide 

The 51������ 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 and our role as workgroup leader of the . �į

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, 51������ researchers have formed a spin-out company, , to develop the next generation of innovative therapies, including for age-related macular degeneration, the UK’s leading cause of blindness.