Rare Diseases 2019

A rare disease is one that fewer than five people in ten thousand have, but really they are not that rare after all. In fact, one in seventeen people suffers from a rare disease although progress with funding, treatment and diagnosis remains sluggish. The Rare Diseases special report, published in The Times, covers how the isolation of a rare disease diagnosis can impact mental health and how patients in rural areas and developing countries are struggling with limited access to support. It examines how genetic screening of newborns can catch rare diseases early and how at-home DNA kits can speed up diagnosis. Also featured is comment on how we must embrace our genomic future as well as an exploration of the factors which led a group of desperate parents to set up the Cystic Fibrosis Buyer’s Club

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