“The genomics revolution has allowed us to understand rare diseases on a molecular level in a way that was not possible before,” says Jimmy Lin, founder of the Rare Genomics Institute, a US non-profit research network. These breakthroughs have been accompanied by a second driving force: digital technology. The ability to harvest and analyse large volumes of genomic data are accelerating the hunt for genetic markers of disease and, crucially, helping identify people with rare conditions who might previously have gone years without diagnosis.

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