Dr Mariya Moosajee, consultant ophthalmologist at Moorfields Private, is leading on a pioneering research project that is seeking a cure for rare genetic causes of blindness.
Dr Moosajee recently spoke with the Evening Standard and London Live about her research that has been able to transform a skin sample the size of a lentil into an “eye cup”, a structure that forms the retina and contains the light-sensitive cells and neurons needed to see properly. This is akin to the eye’s early development in the womb and can be used to test the effectiveness of drugs that are already available, or they can be used to help researchers develop brand new gene therapies.
The research team at the NIHR Moorfields Biomedical Research Centre has already identified a drug that has been shown to improve the function of retinal cells in a patient with choroideremia, a rare genetic disease that causes progressive sight loss and ultimately leads to complete blindness. They hope similar methods could be used to develop some of the first therapies for other genetic eye diseases including retinitis pigmentosa, leber congenital amaurosis and Usher syndrome.
Speaking to the Evening Standard, Dr Moosajee said: “Once we know a patient’s genetic diagnosis, we can grow their own retina in a dish to better understand the disease.”
Earlier this year Dr Moosajee led the expansion of the genetics service at Moorfields Eye Hospital - which is now the largest in Europe - to improve access to testing, counselling and clinical trials for patients and families with genetic eye disease. The improved service is helping to provide accurate diagnosis for patients with rare eye diseases, as well as identifying how likely it is that a family member will develop the same disease.