Addressing challenges in the diagnosis and treatment of rare genetic diseases
KM Boycott, D Ardigó - Nature Reviews Drug Discovery, 2018 - nature.com
KM Boycott, D Ardigó
Nature Reviews Drug Discovery, 2018•nature.comThe 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.
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.
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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