Around 7,000 rare diseases have been identified, impacting an  estimated 300 million people around the world, about 4% of the global  population. Approximately 50% of those diagnosed with a rare disease are  children, and 3 in 10 of them will die before the age of 5. Numbers  differ across countries, but it is estimated that in Europe, less than  10% of patients with a rare disease receive treatment and only 1% are  managed using an approved treatment plan, making this one of the major  global health challenges for the 21st century.

This podcast is the audio recording of a webinar made by Science magazine with the support of Fondation Ipsen. It is the first in a year-long series, will broadly examine critical topics in the rare-diseases field, including the causes of rare  diseases, the latest research advances and challenges, and the  importance of accurate testing, detection, and diagnosis, as well as  policy and human rights issues, particularly in low-income countries.

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