It’s the aim of all ERNs to use ORPHAcodes in all centres to ensure a consistent nomenclature for rare diseases. ORPHAcodes offer a greater visibility for rare diseases in general. To improve the treatment of patients, we will discuss the advantages of ORPHAcodes and how to work with them in ERN RARE-LIVER centres. We will learn about the history of Orphanet and how the French National Rare Disease Registry (BNDMR) successfully implemented ORPHAcodes in France.
The Orphanet nomenclature and classification for Rare Diseases
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Marie-Cécile Gaillard is a Nomenclature project manager and Scientific Coordinator at Orphanet, the European database for Rare Diseases based in Paris, France since April 2022. She hold a Ph.D in human and medical genetics (2015) and have been in the epigenetics and molecular biology fields since then. Hence she is passionate about Biomedical Sciences through her work on various research projects mostly targeting Rare Diseases; she now greatly appreciates to interact directly with medical experts and coordinates Orphanet National Hubs to improve the visibility and patient care of Rare Diseases.
Céline Angin has a Master’s degree in biology and management. She worked for 5 years as a communications pro-ject manager for Orphanet before joining the French National Rare Disease Registry (BNDMR) in 2014. She coordinates the implementation of various actions of the National Rare Diseases Plan, especially on develop-ing new standardized data collections to improve diagnosis wandering and impasse, and RWE-based drugs evaluation. In the frame of the RD-CODE European project, she helped producing recommendations on undiagnosed patients coding in heath information systems.
Prof. Dr. Christoph Schramm is senior consultant for hepatology and gastroenterology at the University Medical Center Hamburg-Eppendorf, Germany. He is director of the Martin Zeitz Center for Rare Diseases and holds the Helmut and Hannelore Greve Foundation Chair for Rare Diseases. Prof. Schramm has a long standing interest in clinical and basic science of autoimmune liver diseases with a focus on primary sclerosing cholangitis, autoim-mune hepatitis and mechanisms of immune regulation in the liver. He contributed to the practice guidelines of the European Association for the Study of the Liver (EASL) on primary biliary cholangitis, primary sclerosing cholangitis (PSC), the EASL/ESGE joint guidance on ERCP in PSC and the current ECCO guideline on extraintestinal manifestations of inflammatory bowel disease. He co-coordinated the first German practice guideline on auto-immune liver diseases. Prof. Schramm is current secretary of the International PSC Study Group (IPSCSG) and is a board member of the European Reference Network on Hepatological Diseases (ERN RARE-LIVER).