CLSI NBS02 describes the basic principles, scope, and range of follow-up and education activities within the newborn screening program and system. NBS02 provides additional information on: Data management and analysis for follow-up. Considerations with advanced screening technology. Follow-up and ed...

Last month marks a year since the adoption in December 2021 of the UN Resolution ‘Addressing the challenges of persons living with a rare diseases and their familiies‘, the first engagement of its kind by the 193 member countries in setting a course to improve the lives of those living w...

The Haute Autorité de la Santé in France recently recommended to switch from targeted to universal Sickle Cell Disease screening in France. Please see https://www.has-sante.fr/jcms/p_3385427/fr/avis-n2022-0060/ac/sespev-du-10-novembre-2022-du-college-de-la-haute-autorite-de-sante-relatif-a-la-gene...

A new study has been published in the Rare Diseases and Orphan Drugs Journal presenting transdisciplinary approaches to managing rare diseases in Europe, North America and East Asia coordinated by the national governments. The study compares the national rare disease plans in Germany, Spain, the UK,...

The French National Database on Rare Diseases (BNDMR) has published for the first time the number of rare disease patients registered in the database by disease, covering more than 4 600 rare diseases. This information provides visibility to patients and will help promote research and development of...