Transforming the management of people with inherited eye disorders: a paradigm for the implementation of genomic medicine

Impact: Health and wellbeing, Society and culture


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 date1 Aug 201331 Dec 2020
Category of impactHealth and wellbeing, Society and culture
Impact levelAdoption