HOME >> BIOLOGY >> NEWS
International team uses genomic tools to discover gene for childhood genetic disorder

Cambridge, MA, January 14, 2003 -- In an advance illustrating the power of genomic information, an international team of researchers today announced it has identified a gene that causes Leigh Syndrome, French Canadian type (LSFC), a fatal inherited disorder affecting 1 in 2000 live births each year in the Saguenay-Lac St Jean region of Quebec. The paper appears in the January 14 issue of the journal Proceedings of the National Academy of Sciences.

The findings will have immediate clinical implications for families in the Saguenay-Lac St-Jean region in the Quebec province in Canada, where the disorder is common and is associated with high infant and childhood mortality. Identification of the gene will enable physicians to provide carrier testing and improved prenatal diagnostic options to members of this community, whose only way of knowing now is after the child is born.

The findings also illustrate the power and promise of integrative genomic approaches to finding disease. Armed with a clue that the culprit is related to mitochondrial function, the scientists searched for leads in three types of genomic datasets--the human genome sequence, expression profiles (data from DNA chips that measure activity of thousands of genes simultaneously), and proteomics data. When information gathered from the three platforms were integrated, a single gene, LRPPRC, stood out as the clear suspect. The team then tested this gene in patients, parents, and controls and identified two mutations that cause the disease. These findings provided definitive proof that the LRPPRC gene is responsible for LSFC.

"Genomic information is changing the way we tackle disease," says Eric Lander, Director of the Whitehead/MIT Center for Genome Research. "Over the next decade, scientists will increasingly be able to use powerful global tools and integrative strategies to accelerate disease-gene discovery, even for complex, common diseases like diabetes and heart disease."
'"/>

Contact: Christine Zeindler
christine.zeindler@muhc.mcgill.ca
514-934-1934
McGill University
14-Jan-2003


Page: 1 2 3 4 5

Related biology news :

1. International study findings link acne-like rash to effectiveness of new targeted cancer treatment
2. USAID, Conservation International & Starbucks launch Conservation Coffee Alliance in Central America
3. ConocoPhillips & Conservation International launch Biodiversity Action Plan in Venezuela
4. A room with a view for the International Space Station: Completion of the cupola observation module
5. International symposium on nutritional genomics
6. First International Scientific Conference on Childhood Leukaemia
7. 1st International Conference on Cell Therapy for Cardiovascular Disease
8. International research conferences at the Villa Vigoni
9. Conservation International & SC Johnson invest in Ecuadors rainforest to offset climate impacts
10. STN International launches Derwent World Patents Index First View
11. Media invited to attend International Society For Heart & Lung Transplantation meeting April 21-24

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/5/2020)... ... June 04, 2020 , ... Murrieta Genomics has announced that its ... simplified sample preparation for Next Generation Genomic Sequencing (NGS) . This is the ... complexity of sample preparation. , “I have been at the bench for over 20 ...
(Date:6/5/2020)... ... 04, 2020 , ... Greffex, a pioneering vaccine and gene therapy company based ... understands the need for a global perspective to make an impact in a post ... will serve as an independent, director of the company. , “The Greffex board is ...
(Date:5/30/2020)... Calif. (PRWEB) , ... May 29, 2020 , ... ... enabler of digital transformation for enterprises globally, has collaborated with EchoNous Inc. to ... FDA. It can measure systolic heart function, which has been clinically tested ...
Breaking Biology News(10 mins):
(Date:7/31/2020)... (PRWEB) , ... July 30, ... ... of cloud-based software for the life sciences industry, today announced the release ... platform designed specifically for Medical Science Liaisons (MSLs) and other field medical ...
(Date:7/18/2020)... ... July 17, 2020 , ... dicentra ... life sciences and food industries, is pleased to announce that Charles Galea has ... Business Development. , Charles is an accomplished and results-driven sales executive with over ...
(Date:7/7/2020)... ... July 06, 2020 , ... R3 International is now ... up to 200 million stem cells. Depending on the patient's condition, treatment may be ... US will die having some form of Alzheimers dementia, and the incidence continues to ...
(Date:6/28/2020)... ... June 25, 2020 , ... The Indoor Lab, a ... Safe Space™ for businesses of all types to ensure cleanliness, distancing and occupancy with ... , A Safe Space™ enabled business will provide a health performance index system that ...
Breaking Biology Technology:
Cached News: