Andrew DeOrio

A Data Driven Technique for Diagnosing Retinal Dystrophies

11 Dec 2015

Retinal dystrophies are genetic conditions associated with reduced or deteriorating vision that may lead to blindness. Current diagnosis technique:specialists test specific genes using gene-sequencing techniques for probable disease-causing variants. Diagnosis can be prohibitively expensive and requires specialists to interpret results. Therefore, many patients lack a conclusive molecular diagnosis critical to providing proper treatment, as many therapies are gene specific.

Our solution is a supervised model that predicts the likelihood of a particular disease-causing gene being mutated. This may help inform providers about appropriate genetic testing panels to order as well as assist ophthalmologists in analyzing inconclusive genetic testing results.

NIPS 2015 Workshop on Machine Learning in Healthcare