Whole-Animal Genetic Model to Mimic Aspects of the Patient Phenotype of Classic Galactosemia



An animal model for studying the underlying causes of galactosemia and screening for novel drugs to treat the condition.

Key Benefits

  • The first animal model for elucidating the underlying causes of galactosemia in infants.
  • Animals with galactosemia causing genetic knockout exhibit similar disease phenotypes and complications as humans.
  • May drive the development of new therapies as a drug screening assay.

Market Summary

Galactosemia is a rare hereditary carbohydrate metabolism disorder affecting the body’s ability to convert galactose to glucose. Galactose is a sugar in milk, including human mother’s milk and other dairy products. Currently, life-long dietary restriction of galactose remains the only accepted “treatment” for patients. Although galactose-restricted diet patients have an average life expectancy, patients still suffer long-term complications like cognitive development, disorders of speech, hypogonadotropic hypogonadism, speech impairments, neuromuscular disorders, and decreased bone mineral density. New medicines must be developed to treat this devastating condition afflicting newborns and children.

Technical Summary

Researchers at Emory have developed a whole-animal genetic model for studying and developing drugs to treat galactosemia. The inventors created a Galactose-1-Phosphate (GALT) deficient drosophila. GALT is a protein that is abundant in infants fed milk with galactosemia. Drosophila with a deficient GALT survive only when fed a diet containing glucose but die when galactose is introduced. In addition, flies fed galactose experience similar locomotor complications as humans, and complications are rescued by transgenic expression of GALT. Hence, the GALT deficient drosophila model can be used to study the disease and test the effects of gene therapies and other potential treatments for the disease before they are tested in humans.

Patent Information

Tech ID: NCS.28
Published: 2/8/2023