On February 20, 2019, Eurordis, Microsoft and Takeda jointly launched the Global Commission in Brussels and New York. The Global Commission aims to shorten the diagnostic odyssey of rare disease patients.

At the event, Romain was invited to talk about the odyssey that led to the diagnosis of a de novo neonatal form of Marfan syndrome in his little boy.

He stressed the vital importance of obtaining a suitable diagnosis as quickly as possible in the context of rare diseases. As well as the social consequences of this announcement.

Romain spoke of the importance of the ongoing genomics revolution and the prospects it offers in terms of both diagnostics and research. In this context, he had the opportunity to present the work of the F101G and the 101 Genomes Project dedicated to Marfan syndrome.

For more information on this initiative : https: //www.globalrarediseasecommission.com/AboutUs