Gene therapy research Q&As

In June 2018, the BBC aired a documentary series called 'how the NHS changed our world'. One of the episodes was filmed at Moorfields Eye Hospital and focused on a range of pioneering treatments and research being carried out here including research into using gene therapy to treat a range of eye conditions. Below are some common Q&As around this research.

What are genes?

Genes are a set of instructions for the growth and development of every cell in your body. Genes determine characteristics such as eye and hair colour and can directly cause or increase your risk of developing a wide range of medical conditions. Find out more

How do genes affect sight?

A wide range of faulty genes cause retinitis pigmentosa (RP) and other inherited eye diseases.

What is gene therapy?

Gene therapy is an experimental technique that uses genes to treat or prevent disease. 

What gene therapy research is Moorfields working on?

The BBC documentary ‘how the NHS changed our world’ featured two types of gene research. Dr James Bainbridge is leading a clinical trial to develop a procedure for a rare form of genetic childhood blindness called Leber's congenital amaurosis. The procedure aims to provide the cells in the eye the gene they are lacking. Similar trials are addressing other forms of genetic impairment of sight.

Dr Mariya Moosajee from Moorfields Eye Hospital and UCL Institute of Ophthalmology is conducting a study using patient's own stem cells and zebrafish models of genetic disease, which may provide a solution to correcting severe sight-threatening diseases, including Leber's congenital amaurosis. Further information about gene therapy trials can be found here

What are the aims of gene therapy research?

The aims are to develop a treatment for patients who have a confirmed genetic disease through genetic testing. These are rare diseases and we know around 500 genes known to cause eye disease. It is costly to produce a gene therapy for each gene, so ideally we would like a gene-therapy based treatment that would reach a larger proportion of patients targeting common diseases, and resulting in improved visual function.

What stage is the research at?

There are many research projects underway at both sites, all are at different stages varying from investigatory basic science in the laboratory to clinical trials. We have to test our drug and gene therapies extensively in the laboratory before we can apply them to patients.

What do we hope to achieve from the research?

We hope that we will be able to slow or halt sight loss. In some cases we hope to see an improvement in vision. In the future with the advent of more technologies, we hope to restore vision.

What has the research found?

Research in this area has added to our understanding of how the disease comes about and how it progresses. It has led to the identification of various treatment targets that can be used for drug screening or gene therapy. And ultimately, it has led to the development of treatments for patients, and a number are in clinical trials. We are hoping if successful they will be approved for use in the NHS in the future.

What’s involved in the trial treatments?

In some cases, the treatment may be a tablet or eye drop. But for others it may be that the patient requires an operation and an injection directly into the eye.

Who could benefit from these treatments in the future?

Patients with inherited sight loss conditions caused by genetic changes. It’s important we identify the genetic cause of the condition so we know exactly why the disease has happened and we can provide personalised medicine directly towards the defective gene. 

If you require genetic testing because you have a family history or have been told you have a genetic disease, please ask your GP to refer you to Moorfields to see the specialist genetic eye consultants. 

Are these treatments available now?

No, these treatments are still in the research and trial phase.

Can I register my interest to take part in future trials?

No. It is not possible to register your interest to take part in future trials for these studies. Further information about ongoing trials across the NHS is available here or you can speak with your GP, optician or eye doctor if you are interested in taking part in other research.

Where can I get more information about gene therapy research and treatment?

Further information about gene therapy trials can be found here