Navigation Links
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 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
julie.robert@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
Source:Eurekalert

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 FDAImports.com, 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:
*Name:
*Comment:
*Email:
(Date:6/20/2017)... ... June 20, 2017 , ... EdChoice and the American ... choice can promote economic development in economically distressed urban areas. The first report ... report, contributed to the economic development of the city of Santa Ana, California. ...
(Date:6/20/2017)... California (PRWEB) , ... June 20, 2017 , ... ... documentation and help content solutions for the enterprise, is proud to announce ... including CRM, e-commerce, ticketing systems, company websites, and more to provide a seamless ...
(Date:6/20/2017)... , ... June 20, 2017 , ... As a leading ... the link between stroke and gum disease. Those with bleeding gums in Vancouver, BC, ... untreated, this condition can lead to heart disease, stroke and diabetes. Drs. Parviz Roshan, ...
(Date:6/20/2017)... ... June 20, 2017 , ... This year, participants ... focused on finding product improvements that could reduce the occurrence of unplanned extubations ... need help breathing or to provide medication. Sometimes, patient movement can cause unplanned ...
(Date:6/20/2017)... ... June 20, 2017 , ... Uniform Advantage (UA), a multi-channel retailer ... designed to create tailored looks and athleisure-inspired outfits. UA Flex fabric is breathable, wrinkle ... twill. , With trendy looks hitting the medical community, UA Flex is for the ...
Breaking Medicine News(10 mins):
(Date:6/8/2017)... , June 8, 2017  StatLab ... leading developer and manufacturer of diagnostic supplies ... today that Cressey & Company LP ("Cressey ... has completed a growth-focused investment in the ... majority ownership position from selling shareholder, Prairie ...
(Date:6/5/2017)... June 5, 2017 Kohll,s Pharmacy & Homecare is the ... the United States . The Raizer is a simple ... person up to an almost-standing position within a ... by one assistant and does not require any ... that a child can operate it, and lightweight ...
(Date:5/30/2017)... , May 30, 2017 Hill-Rom Holdings, Inc. ... Annual Global Healthcare Conference on Tuesday, June 13, 2017, ... John Greisch , Hill-Rom,s president and chief executive officer, is ... The live audio webcast can be accessed at http://ir.hill-rom.com/events.cfm ... conclusion of the live event through September 13, 2017. ...
Breaking Medicine Technology: