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Research: Major breakthrough will revolutionize the screening and treatment of genetic diseases
Date:6/10/2010

This release is available in French.

A research team led by Dr. Nada Jabado at the MUHC and Dr. Jacek Majewski at McGill University has proven for the first time that it is possible to identify any genetic disease in record time thanks to a powerful and reliable exome sequencing method. The exome, a small part of the genome (< 2%), is of crucial interest with regard to research on genetic diseases as it accounts for 85% of mutations. The results of the team's research have just been published in the journal Human Mutation.

"With this new approach, we no longer need to access patients who share the same altered gene pools to be able to identify the gene responsible for a disease. All we require are two persons affected by the disease not necessarily from the same family," explains Dr. Jabado, Associate Professor of Pediatrics at MUHC's Montreal Children's Hospital. "Now, within two weeks and with just two patients, we can easily isolate a gene. This compares to a time frame of six or seven months or even years before we saw results with the old process. This is really a positive breakthrough in genetic analysis."

In their study, the researchers focused on isolating the mutation responsible for a rare and deadly genetic syndrome, Fowler's Syndrome, which is involved in the anarchic proliferation of brain vessels that hinder the brain's development. Their results have revealed between two patients with no family ties a rare case of four mutations in the same gene. This illustrates well the effectiveness of this sequencing technique, the goal of which is to isolate genetic alterations in cases of hereditary diseases among children, regardless of how prevalent they are in society (e.g. mucoviscidosis, sickle-cell anemia).

"These results are very promising. There is now hope that in the near future we can treat a patient p
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Contact: Julie Robert
julie.robert@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
Source:Eurekalert

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