Addressing challenges in the diagnosis and treatment of rare genetic diseases

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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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References

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Acknowledgements

The authors would like to thank A. MacKenzie for helpful discussions, and H. Howley and T. Hartley for editing the manuscript.

Author information

Correspondence to Kym M. Boycott.

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Competing interests

K.M.B. declares no competing interests. D.A. is a full-time employee of Chiesi Farmaceutici S.p.A.

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FURTHER INFORMATION

European Reference Networks

EvaluatePharma

IRDiRC

Matchmaker Exchange

Online Mendelian Inheritance in Man

Orphanet

Rare Disease Clinical Research Network

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Boycott, K., Ardigó, D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat Rev Drug Discov 17, 151–152 (2018) doi:10.1038/nrd.2017.246

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