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Addressing challenges in the diagnosis and treatment of rare genetic diseases.

Addressing challenges in the diagnosis and treatment of rare genetic diseases.
Author Information (click to view)

Boycott KM, Ardigó D,


Boycott KM, Ardigó D, (click to view)

Boycott KM, Ardigó D,

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Nature reviews. Drug discovery 2017 12 15() doi 10.1038/nrd.2017.246

Abstract

The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of diagnosable but nevertheless untreatable disorders. Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.

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