Inherited eye diseases long believed to be inevitable for those with a certain mutated gene actually occur in just a minority of those cases, according to a recent study. Researchers made the discovery after turning their focus from individual patients to the whole population.

 

“What I’m excited about here is this creates an amazing opportunity to understand disease causality but also identify novel targets for treatment,” said Eric Pierce, the William F. Chatlos Professor of Ophthalmology at Harvard Medical School and the Massachusetts Eye and Ear Infirmary, one of the study’s senior authors. “If we can figure out why people don’t get disease when they’ve got these variants, that would be incredibly powerful for therapies to prevent vision loss from these disorders.”

 

The findings by Pierce, co-senior author Elizabeth Rossin, and colleagues from the Massachusetts Eye and Ear Infirmary’s Ocular Genomics Institute and Harvard Medical School, astonished researchers, who said the results indicate much larger influence than expected of “ascertainment bias” — caused by physicians normally seeing only those with the highest chances of developing disease.

 

They also say it is possible that these findings could have implications for other inherited diseases such as Huntington’s disease, muscular dystrophy, and others.

 

The discovery was made possible by the development in recent years of “biobanks” that pair the biological samples of massive numbers of individuals with their electronic medical records. That pairing allows investigators to examine an array of conditions from the standpoint of the broader population rather than depending on individual cases.