Technology Listings

Drosophila Model of Galactosemia

  • Whole animal genetic model for Galactosemia.
  • Fly model can be used to test efficacy of novel therapeutic interventions.
  • Genetic system enables screening for suppressors and/or genetic modifiers of Galactosemia.
Key Benefits
  • First whole-animal genetic model to study GALT and GALE function.
  • Only model that mimics acute and long-term outcomes seen in human patients.
Technical Summary

Emory researchers have created a novel fly model for galactosemia which has distinct advantages over previously used in vitro cell culture systems and in vivo mouse models as it recapitulates significant aspects of the human disease. Galactosemias are a family of potentially lethal disorders that result from impaired metabolism of galactose, affecting around one in 60,000 live births. Classic galactosemia results from a loss of galactose-1-phosphate uridylyltransferase (GALT), and generalized epimerase-deficiency galactosemia results from a loss of UDP-galactose 4'-epimerase (GALE). Despite more than 50 years of investigation, the mechanisms underlying the pathophysiology of galactosemia remain unclear.

Emory investigators recently created a whole-animal genetic model to study this lethal disorder. In their GALT deficient D. melanogaster model, the absence of dGALT results in a galactose-dependent lethality of developing larvae, an outcome that is rescued by transgenic expression of human GALT. The researchers have further demonstrated that loss of dGALE is lethal even in the absence of dietary galactose exposure and that providing increasing amounts of dietary galactose exacerbates this phenotype by hastening death. In contrast, complete loss of dGALT is not lethal unless the animals are exposed to galactose. This fly model stands in welcome contrast to the GALT knockout mouse which remained healthy despite a complete lack of GALT, even when challenged with large quantities of dietary galactose.

Developmental Stage

In vivo proof of principle has been demonstrated in the fly model of galactosemia.

Patent Information
Tech ID: 09050
Published: 4/14/2011
Research Tools

Kae Gruner
Licensing Associate
Emory University

Kenneth Moberg
Judith Fridovich-keil
Rebecca Sanders
Jennifer Sefton
Rebekah Kushner
Emily Ryan
Kerry Garza

Genetic Disorders
Rare/Orphan Diseases