Roles of rare disease parents / patients in drug discovery

What is it about?

Parents of children with rare diseases are increasingly starting foundations and companies to fund drug discovery for their diseases. With 3 rare diseases we describe the efforts that we are aware of.

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Why is it important?

This is likely one of the first attempts by very motivated rare disease families to leave no stone unturned to try to find treatments for their diseases (Sanfilippo syndrome, Giant Axonal Neuropathy and Charco-Marie-Tooth Disease). Their efforts are described as well as putting them into the larger context of rare diseases.