A research team led by Dr. Nada Jabado at the MUHC Research Institute (RI 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.
Read the complete MUHC press release.