International cooperation on rare genetic paediatric brain disorder

A newborn baby was urgently tranferred to the Neonatal Intensive Care Unit Montreal Children’s hospital displaying signs of distress and tremors or seizures. With a head that was smaller than normal, tests showed problems with brain development. Sadly for her parents, baby Mathilde survived for only two and half months.

An international team from Montreal, and the U.S, were determined to find the cause.

Dr. Geneviève Bernard (MD, MSc, FRCPc), is a paediatric neurologist and a researcher with the Child Health and Human Development Program of the RI-MUHC.

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What the researchers found was that baby Mathilde suffered from a form of genetic leukoencephalopathy which is a family of disorders affecting development of nerves and white matter in the brain.

Their research was published in the science journal “Nature Communications” under the title, “Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy”  (available HERE)

To find the cause, sophisticated genetic and blood tests were based on samples from seven children with neuro-developmental disabilities were performed in Montreal,  the Rady Children’s Institute for Genomic Medicine-San Diego, and with cooperation from researchers in Cairo Egypt.

The successfully isolate the cause as a mutation in the VARS gene and the enzyme responsible for generating proteins containing “valine”, an amino acid necessary for cell health.

The study of samples from the children showed markedly reduced enzymatic activity in the children’s cells.

While much study remains to be done, the finding suggests children with the disorder may benefit at some point in the future from treatment with valine containing genes injected into the patient.

While mourning the loss of their newborn, the discovery of the cause of Mathilde’s death was able to bring some closure to the family.

This research was made possible in part by support provided by The McGill University and Génome Québec Innovation and Centre Compute Canada.

This work was partly supported by grants from the Canadian Institutes of Health Research (CIHR), la Fondation du Grand Défi Pierre Lavoie, Fondation les Amis d’Eliott, Fondation Lueur d’Espoir pour Ayden, et le Réseau de Médecine Génétique Appliqué du Fonds de recherche en santé du Québec.