The Bio IT World Conference & Expo has a long standing reputation as being the premier event for showcasing IT and informatics applications and enabling technologies that drive biomedical research, drug discovery & development and clinical and healthcare initiatives.
We are very excited about one of the featured sessions taking place on Wednesday 13th March at 11.40am. The session 2018 ‘Diagnosing Rare Disease Patients: Progress in Fully Automated Diagnosis’ is being delivered by Tom Defay Senior Director, R&D Strategy and Alliances, SPMD, Strategy, Program Management and Data Sciences, Alexion.
You may remember we were part of a recent collaboration, that also included Alexion Pharma, which saw the group achieve a GUINNESS WORLD RECORDS title for the ‘fastest genetic diagnosis’. The project successfully compressed the time needed to diagnose rare genetic disorders in newborns through DNA sequencing to 19.5 hours, setting a new GUINNESS WORLD RECORDS title in a seamless end-to-end process.
Our patented CLiX natural language processing (NLP) solution was needed for two key activities in the process: quickly combing through electronic medical records to extract crucial phenotype information to then compare with over 12,000 phenotypes (plus an additional 15,000 synonyms) describing the characteristics of thousands of rare diseases. The solution can perform both of these tasks in seconds compared to the hours or days it would take a highly skilled specialist physician to do. We understand that Tom will be referencing this project in his session.
It was a great project that we were incredibly proud to be part of as, not only did this exciting project prove the value of our technology, the humbling reality is that this work can help save the lives of children with rare diseases.