During the day on June 17, 2019 a post dedicated to the application of AI in the context of rare diseases was broadcast several times on “La Première” radio. This post cites the example of the 101 Genomes Foundation. You’ll find the transcript below, and you can listen to it by following this link.   

Big data and artificial intelligence, sources of solutions for rare diseases

We sometimes wonder whether technological advances can really improve quality of life. Here’s a very concrete example of the advances that can be achieved through the processing of large quantities of data, known as Big Data, and through artificial intelligence. Recently, the 101 Genomes Foundation was created in Belgium, with the aim of promoting scientific research into rare diseases, by providing researchers with a database containing information on the genomes of patients suffering from rare diseases. The genome is the set of genetic characteristics encoded in DNA: the human genome contains billions of pieces of data. Thanks to big data and algorithms, it will be possible to cross-reference patient data from all over the world in an attempt to identify modifier genes that enable certain patients to be protected against the main rare disease conditions. Isolating these genes will make it possible to develop treatments that replicate their effects, for the most severely affected patients. The 101 Genomes Foundation has launched its first pilot project dedicated to Marfan syndrome, a rare genetic disorder. Thanks to Big Data and artificial intelligence, we can look forward to future advances in the study and treatment of such diseases. Healthcare is undoubtedly one of the areas where the development of new technologies will bring major advances.