NDI1 Therapy for NADH-Ubiquinone Oxidoreductase Deficiency [ 2012 - 2014 ]

Research Grant

Researchers: A/Pr Salvatore Pepe (Principal investigator) ,  A/Pr Joseph Smolich ,  Prof David Thorburn ,  Prof Roberta Gottlieb

Brief description This study will test a new protein therapy that can act as a surrogate for a deficient or defective enzyme called Mitochondrial Complex 1. The deficiency occurs in newborns with defective genes for the proteins that form the enzyme. The defect causes metabolic malfunction in most organs, with patients needing specialist hospital and parental care, but there is no cure yet. We have successfully tested this in the lab but will now test this in our new animal model of the disease.

Funding Amount $AUD 575,762.68

Funding Scheme Project Grants

Notes Standard Project Grant