Addressing challenges in the diagnosis and treatment of rare genetic diseases

Kym M Boycott; Diego Ardigó

doi:10.1038/nrd.2017.246

Addressing challenges in the diagnosis and treatment of rare genetic diseases

Nat Rev Drug Discov. 2018 Mar;17(3):151-152. doi: 10.1038/nrd.2017.246. Epub 2017 Dec 15.

Authors

Kym M Boycott^{1

2}, Diego Ardigó^{2

3}

Affiliations

¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada.
² International Rare Diseases Research Consortium.
³ Corporate Drug Development, Chiesi Farmaceutici S.p.A., Largo Belloli 11/A, 43122 Parma, Italy.

PMID: 29242613
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.

MeSH terms

Genetic Markers*
Genome, Human*
Genomics / methods*
High-Throughput Nucleotide Sequencing
Humans
Molecular Targeted Therapy*
Rare Diseases / diagnosis*
Rare Diseases / genetics
Rare Diseases / therapy*

Substances

Genetic Markers