During the day of June 17, 2019, a post dedicated to the application of AI in rare diseases was broadcast several times on the radio station "La Première". This post cites as an example the action of theFondation 101 Génomes. You will find its transcription below and you can listen to it by following this link.
Big data and artificial intelligence, sources of solutions for rare diseases
Sometimes we wonder whether technological advances can really improve the quality of life. Here is a very concrete example of the advances that can be achieved through the processing of large amounts of data, called big data, and through artificial intelligence. Recently, the Fondation 101 Génomes was created in Belgium, with the objective of promoting scientific research on rare diseases, by providing researchers with a database containing information on the genome of patients suffering from rare diseases. The genome is the set of genetic characteristics encoded in DNA: the human genome contains billions of data. Using big data and algorithms, it will be possible to cross-reference patient data from around the world in an attempt to identify modifier genes that allow some patients to be protected against the major rare disease patients. Isolating these genes will then make it possible to develop treatments that replicate their effects for the most affected patients. The Fondation 101 Génomes launched a first pilot project on Marfan syndrome, a rare genetic disease. Thanks to big data and artificial intelligence, we can hope for future advances in the study and treatment of such diseases. Health is undoubtedly one of the areas where the development of new technologies will bring major progress.