Recent Developments in Using Drosophila as a Model for Human Genetic Disease

Int J Mol Sci. 2018 Jul 13;19(7):2041. doi: 10.3390/ijms19072041.


Many insights into human disease have been built on experimental results in Drosophila, and research in fruit flies is often justified on the basis of its predictive value for questions related to human health. Additionally, there is now a growing recognition of the value of Drosophila for the study of rare human genetic diseases, either as a means of validating the causative nature of a candidate genetic variant found in patients, or as a means of obtaining functional information about a novel disease-linked gene when there is little known about it. For these reasons, funders in the US, Europe, and Canada have launched targeted programs to link human geneticists working on discovering new rare disease loci with researchers who work on the counterpart genes in Drosophila and other model organisms. Several of these initiatives are described here, as are a number of output publications that validate this new approach.

Keywords: animal models; rare Mendelian diseases; targeted funding opportunities.

Publication types

  • Review

MeSH terms

  • Animals
  • Biomedical Research / methods
  • Biomedical Research / organization & administration
  • Biomedical Research / trends
  • Disease Models, Animal*
  • Drosophila / genetics*
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / therapy
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • International Cooperation
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics*
  • Rare Diseases / therapy