2022: a pivotal year for diagnosis and treatment of rare genetic diseases

Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006204. doi: 10.1101/mcs.a006204. Print 2022 Feb.

Abstract

The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Female
  • Humans
  • Pregnancy
  • Rare Diseases* / diagnosis
  • Rare Diseases* / genetics
  • Rare Diseases* / therapy