Navigation Links
Genetic cause discovered for rare bleeding disorder
Date:3/4/2010

lerates blood clot breakdown and this turns platelets into clot busters.

This is "novel," Hayward said, "as QPD is the very first bleeding disorder attributed to having an extra copy of a gene, rather than a defective copy. QPD is also the first bleeding problem attributed to a mutation in the uPA gene."

"The types of mutation that causes some bleeding problems are mistakes that are likely to happen again, and typically, they cause a protein to become defective or deficient," said Hayward. "Now that we know the mutation, we can focus on solving why there is tremendous uPA overproduction in QPD platelets, which will give us fundamental, new insights on how the uPA gene is controlled."

The work is already having a positive impact on the lives of many people. A recent newborn of the family most impacted by the condition was able to have a test immediately to discover whether he had the condition.

"The family needed to know whether this child would need life-long monitoring, and treatments to counteract their clot busting platelets, as having a definite yes or no answer early is key to proper treatment," said Hayward.

Hayward's group at McMaster worked with a Canadian team of investigators including Andrew Paterson at the Hospital for Sick Children in Toronto, and Georges Rivard at the University of Montreal.

Hayward and Rivard believe that the known cases they have studied over the last decade are "the tip of the iceberg" and that the true prevalence of QPD has been underestimated because, until the genetic test became available, there was no way to routinely test bleeders for this condition.

"Diagnosis is important as drugs for other platelet problems and transfusions just don't work for the QPD clot busting problem," said Hayward.


'/>"/>

Contact: Laura Thompson
lthomp@mcmaster.ca
905-525-9140 x22196
McMaster University
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Interleukin Genetics, Inc. and Stanford University Report Genetic Test Improves Weight Loss Success With Diets
2. Genetic Disease Foundation Encourages Americans to Know Their Genes at KnowYourGenes.org in Observance of World Rare Disease Day
3. Trouble Recognizing Faces Could Be Genetic
4. Protecting the brain from a deadly genetic disease
5. Protecting the brain from of a deadly genetic disease
6. Genetic Mutation Linked to Prostate Cancer in Blacks
7. Genetic health risks in children of assisted reproductive technology
8. Scientists Spot Genetic Fingerprints of Individual Cancers
9. Penn researchers find genetic link to leukemias with an unknown origin
10. Genetic Risk Score Doesnt Spot Heart Trouble in Women
11. Study reveals genetic link between mammographic density and breast cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/31/2015)... ... 31, 2015 , ... There’s no better way to enjoy the summer weather ... cook the next meal, making July the most appropriate to be National Hot Dog ... recipes. , Make the next cookout different than the ones in the past. Celebrate ...
(Date:7/31/2015)... (PRWEB) , ... July 31, 2015 , ... ... communicate. Rally Insurance Group, Inc. has re-branded their social media profiles to better ... personal way for consumers to communicate, find information, share insights and opinions. The ...
(Date:7/31/2015)... ... 2015 , ... M3 USA MDLinx.com, source of the Smartest Doc Board Exam ... , The additions of Gastroenterology, Pulmonology and Allergy/Immunology round out an already robust ... the exam easy and painless. MDLinx offers thousands of board-exam style questions and ...
(Date:7/31/2015)... ... ... According to the article published July 27 on My News LA, a fire ... by the city’s fire department before it caused major damage throughout the building. The article ... and it was a fire alarm system that tipped off fire fighters so they could ...
(Date:7/31/2015)... Las Vegas, NV (PRWEB) , ... July 31, 2015 , ... ... Vegas bakery is now offering wedding cakes with custom designs, making life ... hard to deliver beautifully designed wedding cakes for each customer who orders one. , ...
Breaking Medicine News(10 mins):Health News:King Kullen Honors National Hot Dog and Blueberry Month 2Health News:King Kullen Honors National Hot Dog and Blueberry Month 3Health News:Rally Insurance Group, Inc. Connects to Customers Through Re-branded Social Media Profiles 2Health News:MDLinx Offers Three New Board Exam Prep Courses - Gastroenterology, Pulmonology and Allergy/Immunology 2Health News:MDLinx Offers Three New Board Exam Prep Courses - Gastroenterology, Pulmonology and Allergy/Immunology 3Health News:Article on Recent Pasadena Courtroom Fire Highlights the Effectiveness of Fire Alarm Systems, Says Fire Protection Group Inc 2Health News:Article on Recent Pasadena Courtroom Fire Highlights the Effectiveness of Fire Alarm Systems, Says Fire Protection Group Inc 3Health News:Pastry Palace of Las Vegas Announces It Is Now Offering Custom Wedding Cakes in Las Vegas 2
... Marsha Parsons bring you a best-selling competency-based training ... quality of care provided to people with intellectual ... (PBSTC) teaches direct support staff and supervisors the ... to people with intellectual and developmental disabilities. , ...
... of Health Care Costs in the U.S. , , ... Obama was clear in his vision, forceful in his intent, but ... health care reform. In making his case to the American public ... is critical to solving the problem -- and that driver is ...
... segments of the population during a natural disaster," said Bill Numbers, ... and Response at Fresenius Medical Care North America (FMCNA). , ... ... represent one of the most at risk segments of the population ...
... Challenged Students to Submit Thoughts About Healthy LivingWEST NEW ... and Union City Board of Education announced the winners ... special luncheon at The Lighthouse Restaurant in West New ... poems or rap lyrics that best communicate their understanding ...
... Program Allows Doctors to Diagnose and Advise Patients ... A telemedicine program for researchers and ... week as the GW Medical Faculty Associates -- ... George Washington University -- completed the ...
... The American Academy ... announced today its support of efforts to address the nation,s long-term ... reform the U.S. health care system and restore retirement security for ... to be a top priority regardless of any other actions taken ...
Cached Medicine News:Health News:Positive behavior support training curriculum 2Health News:Partnership Applauds President for Shining Light on True Cost Driver in Health Care - Calls on CBO to Join the Effort 2Health News:Preparing for the Next Disaster: Dialysis Community Briefs Hill About Emergency Response 2Health News:Preparing for the Next Disaster: Dialysis Community Briefs Hill About Emergency Response 3Health News:Preparing for the Next Disaster: Dialysis Community Briefs Hill About Emergency Response 4Health News:AMERIGROUP Foundation and Union City Board of Education Announce Winners of 'Word About Health' Contest 2Health News:Remote Medicine: GWU Medical Faculty Treat Antarctica Personnel 2Health News:Actuaries: Priority on Health Reform and Retirement Security Signals Tough Choices Ahead 2Health News:Actuaries: Priority on Health Reform and Retirement Security Signals Tough Choices Ahead 3
(Date:7/31/2015)... -- According to a new market research ... (BIA), Dual-Energy X-ray Absorptiometry (DEXA), Skinfold Calipers, Air Displacement ... Forecast to 2019", published by MarketsandMarkets, the global Body ... and is estimated to grow to $1,425.7 Million by ... to 2019. Browse 41 market data ...
(Date:7/30/2015)... , July 30, 2015  ResMed (NYSE: ... signed a definitive agreement to acquire Curative ... ventilation and sleep-disordered breathing medical devices and ... market reputation in China, combined with ResMed,s global leadership in sleep and ... China suffering from ...
(Date:7/30/2015)... July 30, 2015  EP Global Communications, Inc. (Public ... recently contacted the Company about discussing EPGL,s electronic ... as Monday, August 3, 2015.  Novartis CEO ... that the coming electronic contact lens market could ... the next several years.  Novartis partnered with Google ...
Breaking Medicine Technology:Body Composition Analyzers Market Worth $1,425.7 Million by 2019 2Body Composition Analyzers Market Worth $1,425.7 Million by 2019 3Body Composition Analyzers Market Worth $1,425.7 Million by 2019 4ResMed Invests in High-Growth Chinese Sleep and Respiratory Care Market with Curative Medical 2ResMed Invests in High-Growth Chinese Sleep and Respiratory Care Market with Curative Medical 3
... , Feb. 2 BioSpecifics Technologies ... developing first in class collagenase-based products, today announced ... has approved XIAFLEX™, a novel, first-in-class, orphan-designated, biologic, ... with a palpable cord. Dupuytren,s contracture is a ...
... , BALTIMORE , Feb. 2 Celsis ... a patent infringement lawsuit against XenoTech LLC, Sekisui Chemical Co. Ltd., ... for the Northern District of Illinois in Chicago ...  The complaint alleges that certain processes and methods performed by XenoTech ...
Cached Medicine Technology:BioSpecifics Technologies Corp. Announces FDA Approval of XIAFLEX(TM) for Treatment of Dupuytren's Contracture 2BioSpecifics Technologies Corp. Announces FDA Approval of XIAFLEX(TM) for Treatment of Dupuytren's Contracture 3BioSpecifics Technologies Corp. Announces FDA Approval of XIAFLEX(TM) for Treatment of Dupuytren's Contracture 4Celsis Initiates Patent Infringement Action Against XenoTech and Sekisui 2Celsis Initiates Patent Infringement Action Against XenoTech and Sekisui 3
BD Vacutainer® Specialty Tubes - Thrombin...
The Erythrocyte Sedimentation Rate (ESR) can be used as a nonspecific search technique in case of suspicion of inflammatory reactions as well as for judgement of their development. VACUETTE ESR tubes...
Glucose tubes contain an anti-coagulant and a stabiliser. The tubes are ideal for glucose and lactate determinations....
...
Medicine Products: