Project: Unveiling the Role of Glutamate in dopaminE traNspoTer deficiency syndrome

Acronym URGENT (Reference Number: EJPRD19-220)
Project Topic Dopamine Transporter Deficiency Syndrome (DTDS) is a rare genetic disease affecting children with a deficit in the Dopamine Transporter, a protein regulating the homeostasis of dopamine in the central nervous system and modulating motor control. These children present very severe and disabling motor symptoms appearing from early infancy and worsening throughout childhood. At present, no effective treatments are available for this disorder. Our research consortium has multi-year experience in the study of a genetically modified animal model lacking the dopamine transporter, the protein found to be defective in DTDS patients. Mutant animals lacking the dopamine transporter replicate major symptoms found in children with DTDS, thus providing excellent experimental tool for the identification of novel pathophysiological pathways in appropriate disease models that effectively mimic the human condition and for the development of new drug treatments to treat this disorder. By using these animals, as well as in vitro stem cell-based models reproducing DTDS mutations, we will study pathological mechanisms, development of symptoms and identify potential new treatments of this syndrome. Particularly, we will test new therapy and pharmacological approaches in our animal models. Our aim is to provide the most relevant treatment options from our animal models, in order to allow translation of them into effective clinical treatments of children with DTDS in shortest possible time.
Network EJP RD
Call 1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019)

Project partner

Number Name Role Country
1 University of Mons Coordinator Belgium
2 University of Milan Partner Italy
3 Utrecht University Partner Netherlands
4 University of Toronto Partner Canada
5 Vilnius University Partner Lithuania