Novel treatments for incurable inherited conditions

My name is Dr Mariya Moosajee and I am a National Institute of Health Research Academic Clinical Lecturer working at Great Ormond Street Hospital, Moorfields Eye Hospital and the UCL Institute of Ophthalmology.

I head up a team of researchers investigating the genetic causes of inherited eye disease in order to develop new treatments for incurable conditions, such as choroideremia, Usher syndrome, Leber congential amaurosis and retinitis pigmentosa.

Up to 70% of genetic mutations can cause abnormal stop signals to be introduced into our genes. I’ve identified a drug that can bypass these abnormal signals in the retina, the sight-seeing layer of the eye. This can prevent the disease from developing or slow the retinal degeneration, giving patients hope their vision can be preserved.

I am incredibly grateful to Moorfields Eye Charity and to its donors for providing funding for an additional research scientist, who has sped up our progress by working to translate the positive findings from the laboratory to patients.

The next step in my research is a clinical trial for patients with choroideremia and Usher syndrome using the drug Translarna, which we aim to start in the next year. If successful, this therapy will have far reaching effects and will provide a potential treatment for a wide range of patients with inherited eye disease caused by this particular type of genetic mutation.

To hear the story of a patient who has participated in our research, please watch this video: