Narrative
Inherited eye diseases are a leading cause of blindness in children and working-age adults. Pre-2012, clinical genetic testing for these conditions was non-existent or sporadically undertaken. University of Manchester researchers generated the evidence-base to transform the landscape of genetic testing for people with inherited blindness. This has revolutionised clinical practice and enabled more precise diagnoses, better counselling and personalised management for 8,919 patients referred from the UK and internationally. Their impact has also: (i) contributed to national and European guidelines for clinical management, (ii) introduced tools for international, clinical-grade data sharing, (iii) developed an ophthalmic gene therapy centre in the North of England.| Impact date | 1 Aug 2013 → 31 Dec 2020 |
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| Category of impact | Health and wellbeing, Society and culture |
| Impact level | Adoption |
Documents & Links
Related content
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Research output
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Research output: Contribution to journal › Article › peer-review
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Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Research output: Contribution to journal › Article › peer-review
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Retinal gene therapy in patients with choroideremia: Initial fi ndings from a phase 1/2 clinical trial
Research output: Contribution to journal › Article › peer-review
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Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example
Research output: Contribution to journal › Article › peer-review
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Research output: Contribution to journal › Article › peer-review
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A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
Research output: Contribution to journal › Article › peer-review