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Reimagining rare disease policies through a global lens

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Lai, Austin 


An estimated 400 million individuals suffer from rare diseases globally. Tackling rare diseases has historically posed difficulties, including the lack of knowledge about their underlying causes, lack of resources for patients, and fundamental inefficiencies at multiple stages along the pipeline, from basic science discovery to clinical translation and diagnosis. The development of rare disorder therapeutics, often termed orphan drugs, faces a unique set of challenges in clinical trials: difficulties in recruiting patients, difficulties in following conventional clinical trial structure, as well as financial barriers for drug approval. Here, I argue for the creation of an international organisation for rare diseases to coordinate a shared global patient registry and standard for orphan drug approval. An initiative of such nature, with representation from experts and organisations in the science, medicine, and patient-support industries will assist in overcoming the present challenges, whilst accelerating progress and improving the experience during treatment of patients with rare disorders.



Rare diseases, Orphan drugs, International organisations, Science Policy, Grants

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Cambridge Journal of Science and Policy

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CUSPE (Cambridge University Science and Policy Exchange)

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