06/11/2024
Ottawa, Ontario — Wednesday November 6, 2024
A recent breakthrough has uncovered critical genetic mutations linked to severe brain malformations, offering new hope for diagnosis and treatment for rare disease patients worldwide.
Published in Science, the study revealed that alterations in the TRiC chaperonin complex, specifically the CCT1 through CCT8 genes, may play a pivotal role in a new group of severe brain conditions now known as TRiCopathies.
The study, originally led by a team in Aachen, Germany, was brought to Canada by Dr. Hanns Lochmüller, Senior Scientist at the CHEO Research Institute and The Ottawa Hospital Research Institute, through support by the Canadian Institutes of Health Research Foundation Grant.
Dr. Lochmüller’s team utilized the RD-Connect Genome Phenome Analysis Platform (GPAP) to analyze genetic data from patients with unsolved brain development issues. Their efforts led to the identification of several individuals carrying mutations in the TRiC genes, aligning with the expected clinical symptoms of TRiCopathies.
So far, 22 patients worldwide have received a confirmed diagnosis through this study, and several more cases are under ongoing investigation.
“This discovery highlights the importance of re-analysis of genetic data, as oftentimes patients with a rare disease may not receive a diagnosis until years later once new genes are discovered and more information emerges. We remain hopeful that in addition to the patients who have now received a confirmed diagnosis through the study, more will come, and receive proper care,” said Dr. Lochmüller, Professor of Neurology at the University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine.
International collaboration is a key factor to the success of improving rare disease care, as patients with similar conditions can be scattered across the globe. By sharing data, researchers can enhance diagnostic accuracy and improve outcomes for affected individuals.
Reference: DOI: 10.1126/science.adp8721