Navigation Links
Research: Major breakthrough will revolutionize the screening and treatment of genetic diseases

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 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," states Dr. Jacek Majewski, Assistant Professor at McGill University's Department of Human Genetics.

Thanks to this new, rapid and effective genome sequencing process, within one or two years a 'full catalogue' of mutations that are responsible for most hereditary diseases are expected to be revealed, in addition to further advances in many other more complex diseases, such as cancer in children.

"The sequencing of genetic diseases will lead to a change in our medical practices," Dr. Jabado informs us. "Each patient could receive a personalized treatment depending on the particular genes involved. By sequencing the patient's genome, we will be better able to target the disease and adapt treatment to achieve the best results, according to tolerance levels for each person."


Contact: Julie Robert
McGill University Health Centre

Related medicine news :

1. National Event Addresses Breakthroughs in Crohn's & Colitis Research: National Expert & Researcher Answers Key Questions on Interactive Webcast/Teleconference
2. Research: How you think about your age may affect how you age
3. Sleep preference can predict performance of Major League Baseball pitchers
4. Study: Mining is a major driver of sub-Saharan Africas TB epidemic
5. Survey highlights major Canada-US differences in people in middle age
6. Vanderbilt researchers play major role in new center on electronic health information privacy
7. Talyst Reaches Major Milestone: 500 Implementations in Long-Term Care, Acute Care and Corrections
8. FDA to Take Up Major Enforcement Action Against Cosmetics Manufacturers With Illegal &#8220;Anti-Aging&#8221; Labeling Claims, According to, LLC
9. Celebrity Jennifer Nicole Lee Innovates the Fitness Industry by Launching World's First Premium SMS Product Through Major Cell Phone Carriers
10. Majority of young victims of unintentional shootings shot by another youth
11. Major Depression Often Follows Brain Injury
Post Your Comments:
(Date:11/27/2015)... ... November 27, 2015 , ... According to an article ... of Toronto and the University of British Columbia suggested that laws requiring bicyclists to ... article explains that part of the reason for the controversial conclusion is that, while ...
(Date:11/27/2015)... ... November 27, 2015 , ... A team of Swiss doctors has ... it. Surviving Mesothelioma has just posted the findings on the website. Click here ... the cases of 136 mesothelioma patients who were treated with chemotherapy followed by EPP ...
(Date:11/27/2015)... CA (PRWEB) , ... November 27, 2015 , ... Lizzie’s ... , The company is offering customers 10% off of their purchase of lice treatment ... treatment at full price. According to a company spokesperson. “Finding lice is a sure ...
(Date:11/27/2015)... (PRWEB) , ... November 27, 2015 , ... MPWH, the No.1 Herpes-only dating community in ... (see Table 1-1 ). More than 3.7 billion people under the age of ... 1 (HSV-1), according to WHO's first global estimates of HSV-1 infection . , "The ...
(Date:11/27/2015)... (PRWEB) , ... November 27, 2015 , ... A simply ... Jones, is an interesting show that delves into an array of issues that are ... that could benefit from open dialogue, this show is changing the subjects consumers focus ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... , November 26, 2015 ... the addition of the  "2016 Future ... Global Cell Surface Testing Market: Supplier ... to their offering.  --> ... of the  "2016 Future Horizons and ...
(Date:11/26/2015)... 26, 2015 ... of the  "2016 Future Horizons and ... Drug Monitoring (TDM) Market: Supplier Shares, ... Opportunities"  report to their offering.  ... the addition of the  "2016 Future ...
(Date:11/26/2015)... , November 26, 2015 ... of the "Radioimmunoassay Market by Type ... Pharmaceutical Industry, Academics, Clinical Diagnostic Labs), Application ... Forecast to 2020" report to their ... announced the addition of the "Radioimmunoassay ...
Breaking Medicine Technology: