Patients with suspected genetic eye disease are often asked to give a blood sample so that their doctor can try to find the cause of their condition. This is exactly what Dr Mariya Moosajee, Consultant Ophthalmologist at Moorfields Eye Hospital and Senior Lecturer at UCL Institute of Ophthalmology, does in her clinical practice.
This animation was created by Dr Moosajee and Meike Walcha-Lu, film-maker for the NIHR Moorfields BRC to explain the steps involved in identifying a change in a patients DNA (genetic mutation) that can lead to disease. From our white blood cells, we can extract our genetic code that consists of 3 billion letters coding for 20,000 genes. We can search for spelling mistakes in our DNA and investigate how they cause disease. It also helps us to develop new treatments for patients that could help sight loss.