The inherited eye disease team is an active and diverse team composed of consultants, clinicians, researchers employed by both the University and the Trust. We conduct translational research covering a broad range of inherited eye conditions, from basic science through observational studies to clinical trials.
- Gene discovery. Work has been carried out over a number of years and has been fundamental in discovering the genetic basis of a range of conditions including congenital cataract (2017M), anophthalmia (2004) and inherited retinal dystrophy (2015).
- Functional insights. Such discoveries have enabled fundamental exploration of the role of these genes in causing blindness. This strategy led to the description of novel syndromes (Autosomal bestrophinopathy); expansion of clinical phenotypes (Cohen syndrome, Brittle cornea syndrome); discovery of new molecules (C2ORF71, MiR-204).
- Clinical diagnostics. We have a widely recognized multidisciplinary team providing top level clinical and diagnostic services for patients genetic disorders of vision including inherited retinal dystrophy and childhood cataract.
- From discovery to translation. The translation of such discoveries into improved health service provision is a major aspect of our work. Our team launched the first comprehensive UK gene testing services utilizing next-generation sequencing (NGS).
- We work closely with patient groups to ensure our work is relevant to patient needs. This has allowed health economic and Qualitative research, approaches, led to innovative strategies for patient management and collaboration in clinical trials. Our partners within the Trust are involved in pioneering implantable technology trials in RP patients
The team also provides direct support to the joint genetics & ophthalmology clinics hosted at the Manchester Royal Eye Hospital (MREH). We work in close collaboration with other leading sites in the UK including Oxford, Leeds, UCL and Moorfields Eye Hospital, and other groups in the Trust including the Manchester Vision Regeneration (MVR) Lab and the NIHR Clinical Research Facililty (CRF).