"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.""
""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.""
Inherited eye diseases linked to particular mutated genes manifest in only a minority of individuals carrying those variants. Population-level analysis using biobanks that pair biological samples with electronic medical records revealed a much larger effect of ascertainment bias than previously appreciated, because clinicians tend to see patients with the highest risk. Identifying why many carriers remain disease-free could reveal protective mechanisms and novel therapeutic targets to prevent vision loss. The same population-based approach and insights may apply to other inherited disorders such as Huntington's disease and muscular dystrophy.
Read at Harvard Gazette
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