Embracing human genetics: a primer for developmental biologists

Development. 2020 Jul 2;147(21):dev191114. doi: 10.1242/dev.191114.


Understanding the etiology of congenital disorders requires interdisciplinary research and close collaborations between clinicians, geneticists and developmental biologists. The pace of gene discovery has quickened due to advances in sequencing technology, resulting in a wealth of publicly available sequence data but also a gap between gene discovery and crucial mechanistic insights provided by studies in model systems. In this Spotlight, I highlight the opportunities for developmental biologists to engage with human geneticists and genetic resources to advance the study of congenital disorders.

Keywords: Birth defects; Congenital disorders; Genetics databases; Human genetics.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Developmental Biology*
  • Human Genetics*
  • Humans
  • Models, Biological
  • Mutation / genetics