This November, Orphanet, an “IRDiRC Recommended” resource, officially became the 30th Platform of the French Institute of Bioinformatics (IFB). The IFB is a national bioinformatics infrastructure bringing together platforms from the main players in research in France: CNRS, INRA, INRIA, CEA and the INSERM, as well as the Curie and Paster Institutes and French universities. At the moment, 30 platforms are members, grouped into six regional centres across France. The IFB’s primary mission is to provide the basic services and resources in the field of bioinformatics for scientists and engineers working in life sciences. Notably, IFB is the French node of the European research infrastructure ELIXIR. ELIXIR is a distributed infrastructure for life-science information, uniting Europe’s leading life science organisations in managing and safeguarding the massive amounts of data being generated every day by publicly funded research. As a platform of the IFB, Orphanet is also part of this European research infrastructure, offering data and a bioontology of rare diseases to advance research in this field.
Orphanet will, in particular, participate in the ELIXIR pilot use case on rare diseases in the context of the EXCELERATE project that aims to build an ELIXIR registry of data resources and analysis tools critical for the development of rare disease research, implement a technical framework for the comparison and standardisation of services useful for rare-disease communities, and collaborate with rare-disease communities in organising and running training courses, workshops and jamborees. One of the principal goals of ELIXIR is to work towards the sustainability of resources and tools such as those offered by Orphanet, which makes this a strategic step in the right direction for Orphanet’s future.Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.