A research team led by McGill University Assistant Professors Nada Jabado and Jacek Majewski said their achievement, which involves an exome sequencing method, will revolutionize the screening and treatment of genetic diseases.
The scientists said the exome, a small part of the genome, is of crucial interest to research on genetic diseases since it accounts for 85 percent of mutations.
"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," Jabado said. "All we require are two persons affected by the disease not necessarily from the same family. 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."
Majewski added, "There is now hope that in the near future we can treat a patient presenting a rare, unknown genetic disease in our laboratory and, within a few days, be able to sequence his or her DNA to find the mutation that caused the disease."
The research appears in the journal Human Mutation.
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