Services for Patients with Rare Genetic Diseases in Germany

德国罕见遗传病患者服务

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Abstract

It is estimated that there are currently around 4 million people with a diagnosed rare disease living in Germany, 300 million people worldwide. Rare Disease Centers (RDCs) were founded in Germany as part of the National Action Plan for People with Rare Diseases to improve patient care. Currently, more than 30 RDCs exist. With a focus on coordinating patient pathways and guiding people with a definite or a suspected diagnosis of a rare disease, RDCs organize interdisciplinary case conferences and form networks with dedicated local, national, and international experts for specific rare diseases. This article expounds on the current status and the function of RDCs in Germany. The Berlin Center for Rare Diseases will be discussed as an example. In addition to a description of the center’s workflow, its relationship to other organizations such as European Reference Networks and Patient Organizations as well as its role within the National Strategy for Genomic Medicine will be explained.

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