3billion won Xcelerate RARE Challenge, a competition using AI(artificial intelligence) to make discoveries for rare disease patients. The competition, from May 31 to July 31, was organized by Global Genes, the world's largest rare disease organization, in collaboration with pharmaceutical company Roche. One hundred thirty-two people from 24 teams took part in this competition.

In the competition, there were three challenges to find winners for each. 3billion was selected as the winner of Task 1 by developing an artificial intelligence model to discover new symptoms. Based on various atypical symptoms and questionnaire data for 741 patients diagnosed with 27 diseases, 3billion aimed to create an AI model that could effectively discover undiscovered symptoms in addition to known symptoms for 27 diseases.

3billion team built and applied an artificial intelligence model using natural language processing (NLP) and statistical modeling techniques to extract information related to a given patient's data from 35 million pieces of literature and to estimate unknown symptoms for diseases based on evolutionary conservation among species. As a result, 37 new previously unknown symptoms were discovered for 15 diseases, and when the AI model was applied to a test set of correct answers with known symptoms, 27 of the 29 new symptoms were determined to be accurate. The accuracy of the symptom discovery reached 93%, and the model won the competition as the best-performing model.

"We are very pleased that our hard work during the short competition period culminated in a win," said Won Chan Jeong, the team leader. "We were able to develop a high-performance model quickly because we built on the AI rare disease diagnosis technology that we have accumulated at 3billion. We hope to provide hope and help to patients suffering from rare diseases worldwide. Our technology leads the world in diagnosing rare diseases, developing treatment, and interpreting whole genome data.”

Dr. Kyungyeul Lee, Chief Scientific Officer(CSO) of 3billion, who led the competition, also said, "While working in the field, 3billion's researchers did not stop studying and researching clinical genetics, and we were able to achieve good results because all participants had a sense of mission in solving the challenges. I am grateful to all my colleagues who participated and will continue to contribute to academia and industry in rare disease diagnosis and treatment.”