FindZebra rare disease search engine enhanced by new AI tool

OpenAI's GPT API designed to augment diagnoses, including AADC deficiency

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A new artificial intelligence (AI) tool — OpenAI’s GPT application programming interface (API) — has been integrated into FindZebra, an online search engine that aims to make it easier to find information about, and thereby diagnose, rare diseases.

OpenAI’s GPT API is an innovative deep-learning tool that uses artificial neural networks to simulate the way the human brain learns, helping computer systems analyze data, learn from their analyses, and then make a prediction about something with increasing accuracy.

“The integration of OpenAI’s GPT API into FindZebra’s search technology represents a major stride in our mission to provide physicians, patients, and families with a robust tool for identifying and understanding rare diseases,” Ole Winther, PhD, co-founder of FindZebra and a professor at the University of Copenhagen, in Denmark, said in a press release.

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New foundation seeks to boost care for undiagnosed, ultra-rare diseases

An estimated 7,000 rare diseases, including the ultra-rare aromatic l-amino acid decarboxylase (AADC) deficiency, are known to exist worldwide. People with rare diseases sometimes experience a diagnostic odyssey lasting more than five years, and 40% of them are misdiagnosed at least once.

The diagnostic process usually takes doctors countless hours on search engines like Google to correctly identify the disease associated with the observed symptoms. These search engines tend to use algorithms that highlight information that is helpful to the largest number of people.

As a result, information on rare diseases, which, by definition, affect a smaller percentage of the population, tends to get buried by other more general information.

In addition, doctors often are taught the medical adage “When you hear hoofbeats, think of horses not zebras,” (implying that the most obvious answer is usually true). But for people with rare diseases, it’s necessary that doctors look specifically for the zebras amidst all the more common horses — hence the search engine name, FindZebra.

Launched about a decade ago, FindZebra was designed to offer an alternative resource to common search engines that would provide faster and more-to-the-point results on rare diseases.

The platform mines only for relevant information from freely available, reputable rare disease sources to limit irrelevant results and lower the time required for assessment.

Symptom checker

The search engine is meant to be used as a symptom checker by physicians and other medical specialists who are involved in caring for people with rare diseases. Users can input symptoms and other clinical features, and the search engine will provide information on potential rare disorders and associated genes.

FindZebra’s new technology update aims to make the software better at answering questions and understanding human language, ultimately learning to find more relevant information and providing the best results on a possible rare disease diagnosis.

“As the digital landscape evolves, it’s important that we persist in our innovation and improvement of our technology to ensure those affected by rare diseases have access to reliable and accurate information,” Winther said. “The application of OpenAI’s cutting-edge GPT technology will aid us in this endeavour, making a significant impact on countless lives.”