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The aim of our research is not only to identify the cause of the blindness but also to develop treatments, by removing the mistake, also known as mutation, allowing the 'healthy' genes in the eye to work normally and restore sight.

Unfortunately, we are not all born with the genes for a healthy life. Some parents live with the reality that they have passed changes in their genes onto their children that can cause disease

These mistakes in the letters that make up DNA are simple spelling mistakes in our 'book of life'. Some of these mistakes, which may be as little as just one in 3 billion letters, are enough to result in blinding eye diseases, such as the corneal dystrophies.

By taking blood and obtaining DNA, researchers in the Biomedical Science Research Institute at Ulster University can read the letters in a patient's DNA and identify the corneal dystrophy-causing mistakes.

The treatments we develop are tailored to the specific mistake that each individual child or adult carries, it is known as personalised medicine. We are currently trying to identify mutations in genes of two young children.

We are developing a specific therapy for an active young boy who loves football and fun and has a mutation in a gene known as TGFBI.  We are also trying to identify which gene in a little girl's DNA is carrying a mistake and we hope to develop a therapy for her also.  Although the use of animals in research is a difficult subject for this little girl's parents this research gives them hope to find a cure for their daughter:

'Research gives us hope for the future in hopefully finding a cure for our daughter's corneal disease. The use of animals in research is a difficult subject for us but this may be the only way of helping our daughter. As parents we often have to make difficult decisions for our children but this has the potential to make an enormous difference to her life'.

Before we can use these cutting-edge treatments on children and adults, we need to make sure that they are safe and don't have any unintended side effects. To do this we manipulate the DNA of laboratory mice to create the same mistake as causes the corneal dystrophy we are trying to treat. It is important that we use as few mice as possible in these tests and to make sure they do not suffer. The mice produce a harmless protein in their eyes that lets us know how well our treatment is working. The mice with brighter colour in their eyes have the mistakes in the DNA in their eyes, when we treat the eyes we see this colour decrease which reflects our ability to remove the mistake.

To date we have made novel gene editing and gene silencing treatments, which work well in our mice eyes. We are able to reduce the mutation without causing changes to the healthy parts of the eye and excitingly results are showing we can reverse the blindness. Once we have completed further tests to determine the best way to deliver this novel gene therapy, we will be able to move forward to clinical trials in humans and bring the hope of sight to children who are losing their vision due to mistakes in their DNA.