Navigation Links
Discovery of the gene responsible for multiple intestinal atresia in newborns
Date:6/11/2013

This news release is available in French.

Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder that affects newborns. In addition to exploring novel therapeutic treatments for children with the disease, the discovery of the gene TTC7A will make it possible to develop a prenatal diagnostic test and a screening test for parents who are carriers. The Centre hospitalier universitaire de Sherbrooke (CHUS) should offer the tests.

MIA is a congenital disease characterized by multiple obstructions all along the digestive tract from the stomach to the small intestine and colon often associated with severe immune deficiency. By studying the DNA of children with MIA, the research team identified mutations in the TTC7A gene, including one that turns out to be relatively common in the French-speaking population of Quebec.

A devastating and life-threatening disease

While the disease is rare, about thirty cases have been recorded in Quebec over the last 30 years. Even today, it remains a devastating and fatal condition. "Multiple surgeries, intestinal transplants and bone marrow transplants have not led to any real solutions for the disease. Even after such interventions, the newborns' digestive tract does not always work the way it should. The life expectancy of these children is about two to three months. With the discovery of the gene responsible for the disease, it will now be possible to confirm an MIA diagnosis in newborns using genetic tests," states Dr. Bruno Maranda, who is a physician-geneticist at the CHUS, an investigator at the CHUS' Centre de recherche clinique tienne-Le Bel (CRC
'/>"/>

Contact: Mathieu Filion
m.filion.rivest@umontreal.ca
514-343-7704
University of Montreal
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Autism discovery paves way for early blood test and therapeutic options
2. Eurofins MWG Operon and Floragenex close co-marketing agreement for RAD discovery and RAD genotyping
3. Discovery pinpoints cause of 2 types of leukemia
4. Discovery shows fat triggers rheumatoid arthritis
5. Pitt discovery holds potential in destroying drug-resistant bacteria
6. Discovery of new hormone opens doors to new type 2 diabetes treatments
7. Discovery may help prevent chemotherapy-induced anemia
8. Discovery may help prevent HIV reservoirs from forming
9. An important discovery in breast cancer by IRCM researchers
10. Genetic discovery found to influence obesity in people of African ancestry
11. Accidental discovery may lead to improved polymers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/28/2014)... the United States have a circulatory problem of the ... and may even require surgery in serious cases. This ... in turn, limb amputation. , At The University of ... scientists tested a non-surgical preventative treatment in a mouse ... increased blood circulation. Their proof-of-concept study appears in ...
(Date:7/28/2014)... Fifteen years ago, MIT professor John Essigmann and colleagues from ... HIV drug. They thought if they could induce the virus ... eventually die out a strategy that our immune system ... a drug, which caused HIV to mutate at an enhanced ... from patients in a small clinical trial reported in 2011. ...
(Date:7/28/2014)... A study of juvenile rat brain cells suggests that ... the connections between brain cells are temporary. , The ... PLOS ONE , was conducted by biologists at ... Medical College in New York in response to concerns, ... decade, that exposing children to general anesthetics may increase ...
Breaking Biology News(10 mins):Scientists discover genetic switch that can prevent peripheral vascular disease in mice 2Forced mutations doom HIV 2Forced mutations doom HIV 3Forced mutations doom HIV 4Study suggests disruptive effects of anesthesia on brain cell connections are temporary 2Study suggests disruptive effects of anesthesia on brain cell connections are temporary 3
... EarlyView of Ecology Letters addresses forest productivity ... by a warming climate. The findings, conducted by scientists ... institutions based in Alaska and France, linked satellite observations ... observed support current hypotheses regarding increased growth of evergreen ...
... to treat patients with cancer. Not only does the virus ... release pro-inflammatory chemokines and cytokines, which in turn causes the ... by BioMed Central,s open access journal Molecular Cancer ... even when isolated, result in the death of cancer cells. ...
... the journal Nature Nanotechnology , Nongjian "NJ" Tao, ... University, has demonstrated a clever way of controlling electrical ... mechanical properties. Such control may eventually play ... created to perform myriad useful tasks, from biological and ...
Cached Biology News:New study illustrates shifting biomes in Alaska 2Manipulating molecules for a new breed of electronics 2
(Date:7/29/2014)... (PRWEB) July 29, 2014 Philadelphia’s newest entrepreneurial ... businesses get their start. The Innovation Center @3401 , ... University City Science Center to help attract and ... on Monday, July 28. , The Innovation ... 34th and Market Streets, is the new home of ...
(Date:7/29/2014)... -- United Therapeutics Corporation (NASDAQ: UTHR ... the second quarter ended June 30, 2014. ... medicines are reaching increasing numbers of patients ... Martine Rothblatt, Ph.D., United Therapeutics, Chairman and ... quarter of our extended-release tablet called Orenitram ...
(Date:7/29/2014)... Dr. Jason Wendel – recipient of a Regional Top Doctor ... 10 Plastic Surgeon Specialists for Nashville, TN – has released ... includes a Hydration Booster, Retexturing Night Crème, and Anti-aging C ... younger, more radiant appearance while protecting them from the sun’s ... why at Dr. J. J. Wendel Plastic Surgery, we have ...
(Date:7/28/2014)... , July 28, 2014 Sapphire ... technologies, today announced the appointment of biotechnology veteran ... the board of directors. Levine replaces Cynthia ,CJ, Warner, ... She will remain chairman of the company,s board of ... Sapphire Energy,s mission to deliver commercial scale algae-based fuels ...
Breaking Biology Technology:Innovation Center @3401 Opens for Business; DreamIt Ventures and Point.io First Residents 2Innovation Center @3401 Opens for Business; DreamIt Ventures and Point.io First Residents 3United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 2United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 3United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 4United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 5United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 6United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 7United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 8United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 9United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 10United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 11United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 12United Therapeutics Corporation Reports Second Quarter 2014 Financial Results 13Dr. J. J. Wendel Launches New Line of Skin Care Products 2Sapphire Energy Announces New CEO James Levine 2Sapphire Energy Announces New CEO James Levine 3
... Ind. - Researchers are edging toward the creation ... of ultra-efficient transmission of light, with potential applications ... The metamaterial - layers of silver and titanium ... dramatically changes the properties of light. The light ...
... CRANBURY, N.J., May 25, 2012  Oncobiologics, Inc. announced ... positions with established biopharmaceutical industry experts. Stephen J. ... and Vincent J. Benn, Ph.D. has joined the ... The company also announced its new Scientific Advisory ...
... ANAHEIM, Calif., May 24, 2012 Questcor Pharmaceuticals, Inc. (NASDAQ: ... present at the Jefferies 2012 Global Healthcare Conference in New ... 8:00 a.m. ET. A live webcast and subsequent ... http://ir.questcor.com/events.cfm .  The replay will be available for approximately 90 ...
Cached Biology Technology:'Metamaterials,' quantum dots show promise for new technologies 2Oncobiologics Fills Key Leadership Positions and Names Scientific Advisory Board 2Oncobiologics Fills Key Leadership Positions and Names Scientific Advisory Board 3Questcor Pharmaceuticals to Present at Jefferies 2012 Global Healthcare Conference 2
... provides maximum performance on minimum space. Thanks ... high heating and cooling rates have been ... With a maximum capacity of 48 x ... capacity of much more expensive 96 well ...
... is available in a ready-to-use format. ... for dewaxing paraffin-embedded tissue sections prior ... or other analytical methods. The conventional ... dipping the slides in a series ...
EZ-DeWax is a one-step solution that simultanously removes paraffin from and rehydrates formalin-fixed, paraffin embedded tissue...
... Dyad thermal cycler is a flexible ... chassis accommodates a variety of interchangeable ... hold different types and numbers of ... with point-and-click navigation. Peltier heat pumps, ...
Biology Products: