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.


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*


  • Genetic Markers