Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment

Int J Mol Sci. 2023 May 22;24(10):9064. doi: 10.3390/ijms24109064.

Abstract

Rare Diseases (RD) do not have an exact definition since local authorities define the criteria in different ways, from fewer than 5 people in 10,000, according to the European Union, to the standard world average of 40 cases per 100,000 people [...].

Publication types

  • Editorial

MeSH terms

  • Humans
  • Precision Medicine*
  • Rare Diseases* / diagnosis
  • Rare Diseases* / genetics
  • Rare Diseases* / therapy