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Moorfields Private Consultant receives funding to tackle child blindness

£1.1 million awarded to identify causes and target therapies

6 April 2017

Pictured to the left is Dr Mariya Moosajee, Consultant Ophthalmologist at Moorfields Private Eye Hospital

A Moorfields Private consultant has received a major funding award to identify the genetic causes and develop targeted gene therapies to prevent the commonest cause of blindness in children.

Dr Mariya Moosajee, consultant ophthalmologist at Moorfields Private Eye Hospital and senior clinical lecturer at the UCL Institute of Ophthalmology has been awarded £1.1m from the Wellcome Trust for a Clinical Research Career Development Fellowship.

Stem cells derived from patient’s skin will be used to grow a 3D model of a human eye to investigate genes that cause ocular maldevelopment, a condition which can cause babies to be born without eyes or underdeveloped eyes. Pioneering gene editing technology will then correct the defective gene to see if the cells can grow into normal healthy eyes.

It is hoped that this could pave the way for targeted drug and gene therapies that might one day be used as a prenatal therapy. Birth eye defects develop during pregnancy and cause structural abnormalities in the eye. They are responsible for over a third of blindness and severe visual impairment in children worldwide. Only a few genes have been found to cause the abnormalities and there is no treatment currently available.

The funding will allow for full genome screening of patients with birth eye defects to identify the genetic cause of their condition. This will help provide an accurate genetic diagnosis in the future, with informed genetic counselling and improved care pathways for patients and their families.

Dr Mariya Moosajee said: “Nearly twenty percent of all children registered blind in the UK suffer from birth eye defects but only a few genetic causes have so far been identified. Once we understand the genetic causes and can identify chemical changes in human DNA that influence genes being switched on or off at crucial points during normal eye development, a real focus on developing a treatment can be made. It will allow us to develop and test new drugs and targeted genetic therapies that could one day be used to encourage eye growth and prevent the abnormalities from developing.”

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