Genomic Medicine and Informatics

We have historically made some of the highest contributions to national genetic schemes, including the 100K genome project among others. Ophthalmology generally, and particularly our centre, leads the technology that acquires large genetic, metabolic and clinical databases. Having these databases provides the opportunity to improve and optimise clinical care in the longer term.

Through our research, we are increasing the ability to achieve an accurate genetic diagnosis in a group of blinding inherited eye diseases. Even if treatment options are limited, genetic diagnosis enables accurate counselling of prognosis, and risk to relatives and children.

We are an NIHR Bioresource for Common and Rare Diseases centre.

Aims:

1. Develop precise diagnosis, novel treatments and improving patient care for single gene causes of blindness

2. Define mechanisms, improve treatments and prevent blindness for common multi-factorial blinding conditions

3. Implement Precision Medicine through cellular models of specific blinding diseases

AIM 1 - Although single gene causes of blindness are rare, together they affect 7 per cent of the population. These eye diseases, however, are a huge burden on the patient, families, carers and society as they cause lifelong, untreatable and permanent blindness. We have recruited extensively to five large studies (see below). which will look overall at gene discovery, deep phenotyping, trial recruitment and treatment. These studies as a resource will increase our understanding of the link between gene mutation and eye disease and therefore the counselling and management for patients and families living with these diseases.

AIM 2 - We have identified that the majority of genetic risk factors in AMD act early in the disease process. We plan to identify the highest and lowest risk individuals in the population and undertake deep phenotyping to determine structural and functional changes that may occur before patients have started to have symptoms.

AIM 3 - We are working on using the development of retinal tissue from patient-derived stem cells to provide us with the tools to develop and validate our precision medicine approach for blinding eye diseases.


Five initiatives highlighted above:

1. NIHR BioResource (BRIDGE rare-disease consortium). 800 probands with inherited retinal disease have been recruited (biggest single site, 16% of total UK cohort).

2. Genomics England pilot – largest single site – 200 families, 560 participants.

3. Genomics England main - projected 2300 participants

4. UK retinal disease consortium (charity funded £1.2M) – largest recruiter to this UK-wide study (approximately 500 families over the next 3 years)

5. NIHR TRC Rare disease – Including 530 ABCA4-retinopathy patients (Webster), 80 inherited optic neuropathy patients (Yu Wai Man) and 70 cone-dysfunction probands (Michaelides).


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