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:6/26/2016)... ... 2016 , ... Quality metrics are proliferating in cancer care, and are derived ... eye of the beholder, according to experts who offered insights and commentary in the ... Care. For the full issue, click here . , For the American Society ...
(Date:6/26/2016)... Charlotte, NC (PRWEB) , ... June 26, 2016 , ... Brent Kasmer, a legally blind ... able to be personalized through a fitness app. The fitness app plans to fix the ... solutions currently only offer a one size fits all type program , They ...
(Date:6/25/2016)... Miami, FL (PRWEB) , ... June 25, 2016 , ... The temporary closing of Bruton ... Plant City Observer , brings up a new, often overlooked aspect of head lice: ... The closing for fumigation is not a common occurrence, but a necessary one in the ...
(Date:6/25/2016)... ... June 25, 2016 , ... ... recover from injury. Recently, he has implemented orthobiologic procedures as a method for ... is one of the first doctors to perform the treatment. Orthobiologics are substances ...
(Date:6/24/2016)... ... 2016 , ... Those who have experienced traumatic events may suffer from a ... such as drug or alcohol abuse, as a coping mechanism. To avoid this pain ... following a traumatic event. , Trauma sufferers tend to feel a range of emotions, ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... and INDIANAPOLIS , June ... receiving a Lilly Diabetes Tomorrow,s Leaders Scholarship is any ... scholarship winners, announced today online at ... type 1 diabetes stand in the way of academic ... supported the Foundation,s scholarship program since 2012, and continues ...
(Date:6/23/2016)... June 23, 2016 Revolutionary technology ... Oticon , industry leaders in advanced audiology and ... Oticon Opn ™, the world,s first internet connected ... for IoT devices.      (Photo: ... a number of ,world firsts,: , TwinLink™ ...
(Date:6/23/2016)... The vast majority of dialysis patients currently ... are usually 3 times a week, with treatment times ... time, equipment preparation and wait time.  This regimen can ... patients who are elderly and frail.  Many elderly dialysis ... centers for some duration of time. Residents ...
Breaking Medicine Technology: