A research team led by Dr. Geneviève Bernard at the Research Institute of the McGill University Health Centre (RI-MUHC) has reached an important milestone in research into leukodystrophies, deadly neurodegenerative diseases that affect approximately one in 4700 children and remain incurable to this day. The team has succeeded in creating the first representative animal model of 4H leukodystrophy, one of the common forms of the disease. This is a crucial step in the development of treatments, recently described in an article published in the prestigious journal Brain.
“This significant progress will allow us to understand the disease better and to test putative therapies, which we have already started doing. Without such a disease model, there would be limited to no hope of finding a cure for this disease,” says Dr. Bernard, a scientist in the Child Health and Human Development Program at the RI-MUHC and a neurologist at the Montreal Children’s Hospital of the MUHC.
“By developing this model, we’ve answered fundamental questions about disease pathogenesis. Deep understanding of the biology of a disease is a foundational aspect of therapy development,” adds Mack Michell-Robinson, first author of the study and MD-PhD student in Dr. Bernard’s lab at the RI-MUHC.