Rare diseases are notoriously difficult to diagnose. According to the FDA, one-third of people with a rare disease will wait one to five years before receiving a correct diagnosis. A new search engine created by researchers at the Technical University of Denmark, FindZebra, is aiming to change that.
"Zebra" is a medical slang term for a surprising diagnosis. The term derives from the aphorism "When you hear hoofbeats behind you, don't expect to see a zebra", which was coined by a professor at the University of Maryland School of Medicine to describe unexpected diagnoses. This term is widely used in medical communities, and refers to diseases occurring in less than 1 in 2000 of the population.
The FindZebra website states that it aims to "[address] the task of searching for relevant rare diseases given a query of patient data. The patient data is given as free text, which means that the queries do not have to use a controlled vocabulary or specific query language restrictions as in conventional diagnostic assistance systems. The patient data submitted as a query to the information retrieval (IR) system could consist of patient age, gender, demographic information, symptoms, evidence of diseases, test results, previous diagnoses, and other information that a clinician might find relevant in the differential diagnosis."