Montreal Children's Hospital Foundation

Leukodystrophies are a group of rare, typically neurodegenerative, genetic diseases affecting children who are otherwise in good health. They are caused by abnormalities in myelin or white matter, which is a sheath protecting neurons, or nerve cells, and ensures the rapid conduction of nerve impulses.

They are classified into two major categories according to the characteristics observed in brain scans: hypomyelinating leukodystrophies (abnormal development of myelin causing a lack or insufficient quantity of myelin) or non-hypomyelinating leukodystrophies (diseased myelin).

Children with leukodystrophies develop progressive handicaps, leading to death months to years after its onset. Unfortunately, there is no known cure. Approximately 20% to 30% of young patients do not get a precise diagnosis, despite undergoing numerous tests. To find a treatment, the first step is to better understand the cause by identifying the genes responsible.

Dr. Geneviève Bernard’s research program aims to complete the characterization of leukodystrophies, describe their development and their impact on patients and their families, identify new causal genes, and study their pathophysiology in the hopes of improving medical care, finding potential treatments, and paving the way for future therapeutic trials.

A primary focus of Dr. Bernard’s research is on hypomyelinating leukodystrophies, specifically, RNA polymerase III-related or 4H leukodystrophy. Affected children have numerous complications, including progressive difficulties walking, speaking, swallowing, and vision problems (myopia). 4H is caused by mutations (or alterations) in 5 genes which are important for the survival of cells.

Consider donating today to help support this groundbreaking work for patients with leukodystrophy and their families all over the globe!

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