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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