One U.K.-based ophthalmologist team just received a major grant to study the genetic causes of underdeveloped eyes in children.
Dr. Mariya Moosajee, who works at London's Moorfields Eye Hospital, will serve as the head researcher on this project. The Wellcome Trust for a Clinical Research Career Development Fellowship provided Moorfields a generous £1.1 million grant to study how genetics plays a role in the development of ocular maldevelopment.
Interestingly, the scientific community knows very little about the specific genetic causes surrounding eye defects in infants. Despite evidence to the contrary, most doctors simply label cases of ocular maldevelopment in children as the result of environmental factors. Less than 6 percent of cases of ocular maldevelopment in the U.K. are given an official genetic diagnosis.
The main reason doctors don't give genetic diagnoses is because there's a lack of empirical evidence to suggest genetics plays the central role in ocular maldevelopment. Dr. Moosajee and her team of researchers are hoping to change this perspective with their latest study.
Researchers at Moorfields are now using stem cells taken from a patient's skin to make a 3D model eye. After this is complete, Dr. Moosajee will use gene editing technology to study defective genes and try out various strategies to heal them.
After researchers have gathered enough information, Dr. Moosajee believes her work will encourage doctors to give more ocular maldevelopment cases a genetic diagnosis. She hopes at least 50-60 percent of all ocular maldevelopment cases will be diagnosed as a genetic disorder. She also hopes this research could lead to more accurate screenings and effective genetic counseling strategies for patients.
Once doctors know the exact gene that's causing the ocular maldevelopment, Dr. Moosajee believes geneticists will be able to correct the disease early on. If left untreated, ocular maldevelopment can lead to blindness or other lifelong physical issues.
Although results from this study are promising, it's going to take awhile to compile all of the data. The entire study is slated to last for at least five years.
Currently, 20 percent of children who are legally blind in the U.K. were born with some kind of defect. Although this is an undeniable fact, doctors have yet to identify specific genetic causes for ocular maldevelopment.
One of the main reasons Dr. Moosajee is so passionate about what she does is because she knows how painful it can be for parents to hear there's no treatment available for their child. Dr. Moosajee said she wants to offer hope to all patients suffering from ocular maldevelopment. She believes, so long as her team can make a workable 3D model, that a wide variety of genetic treatment options will become available for the general population soon.
Dr. Moosajee holds degrees from Imperial College London in biochemistry, medicine, and molecular ophthalmology. The Royal College of Ophthalmologists awarded Dr. Moosajee for her work twice with the prestigious Foulds Trophy. She is currently an NIHR Academic Clinical Lecturer in the Department of Ocular Biology and Therapeutics UCL Institute of Ophthalmology and Moorfields.