Navigation Links
Researchers take important step in unlocking what causes congenital heart disease
Date:5/12/2013

Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect. The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart. Congenital heart disease can cause infants to be born with structural heart problems, which can be serious or even life-threatening.

The findings, which were published online today in the journal Nature, will inform future research into the causes of congenital heart disease.

This research was conducted through the National Heart, Lung, and Blood Institute- (NHLBI) supported Pediatric Cardiac Genomics Consortium, an international, multi-center collaborative research effort. The NHLBI is part of the National Institutes of Health.

The researchers looked at 362 parent-offspring trios, each of which included a child with congenital heart disease and his or her healthy parents, as well as 264 healthy parent-offspring trios, which served as the control group. The team conducted an analysis using state-of-the-art sequencing and genome mapping techniques and found that the children with congenital heart disease had a greatly increased rate of spontaneous mutations among genes that are highly expressed, or active, in the developing heart. Specifically, the analysis found that about 10 percent of the participant cases were associated with spontaneous mutations that arise during fetal development. Many of these genes were involved in a specific pathway that controls and regulates gene expression, which provides some insight into how the defects arise.

The Pediatric Cardiac Genomics Consortium provided resources to recruit thousands of patients in a small amount of time and used advanced sequencing techniques to identify genes that are implicated in congenital heart disease.

Future research aims to better understand how congenital heart disease develops in order to improve treatment and perhaps eventually prevent congenital heart disease in the early stages of heart formation.


'/>"/>

Contact: NHLBI Communications Office
nhlbi_news@nhlbi.nih.gov
301-496-4236
NIH/National Heart, Lung and Blood Institute
Source:Eurekalert

Related medicine news :

1. UCLA stem cell researchers move toward treatment for rare genetic nerve disease
2. Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
3. Duke researchers describe how breast cancer cells acquire drug resistance
4. CWRU School of Medicine researchers discover new target for personalized cancer therapy
5. U of M researchers discover link between heart, blood, and skeletal muscle
6. Researchers determine where best to place defibrillators
7. Researchers plot locations where AEDs could save more lives
8. Gene Mutation Linked to Migraines, Researchers Say
9. Discovery of New Cause of Congenital Hydrocephalus Opens the Door to Collaborative Research Study, Hydrocephalus Association Commends Researchers
10. Northwestern Medicine researchers work to improve heart attack response time
11. NYU and NYU Langone researchers devise method for enhancing CEST MRI
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/6/2016)... ... May 06, 2016 , ... DrugDev President ... the way the pharmaceutical industry conducts clinical trials. This month Ibs was named No. ... in pharma, and he was honored as a Tech Disruptor by the Philadelphia Business ...
(Date:5/6/2016)... ... May 06, 2016 , ... ... Service, their latest implementation service offering for global clients of Coupa ( Coupa ... , Bluvault’s Integration Service is a key component in the suite of ...
(Date:5/6/2016)... (PRWEB) , ... May 06, 2016 , ... From May ... Chicago, IL, offering EarQ members the unique opportunity to learn more about Signia’s technology ... independent practice growth. , “It is our priority to see practices succeed in this ...
(Date:5/6/2016)... ... 2016 , ... Multiple award winning plumbing company in San Diego, ... Maintaining core values of exceptional customer service, quality work at reasonable rates, and giving ... in San Diego plumbing, and other services including heating & air conditioning and restoration ...
(Date:5/6/2016)... LA (PRWEB) , ... May 06, 2016 , ... ... Health System and David Konur, CEO of Cardiovascular Institute of the South announced ... will be performing a live case of an Intravascular Ultrasound Guided Coronary Atherectomy. ...
Breaking Medicine News(10 mins):
(Date:5/5/2016)... 2016  Replikins Ltd. today reported initial promising results in animal trials of its ... http://photos.prnewswire.com/prnh/20160505/364345 ... ... ... specimens recorded on Pubmed. The analysis identified the highest gene Replikin Counts in Zika ...
(Date:5/5/2016)... , May 5, 2016  Diagnostic imaging has ... due to concerns that these tests cause health care costs ... to imaging, as well as the adoption of ... of medical peripherals that help health care providers cut costs, ...  advanced medical imaging is a renowned authorized reseller of ...
(Date:5/5/2016)... 2016 Research and ... Thalassaemia Market and Competitive Landscape Highlights - ...      (Logo: http://photos.prnewswire.com/prnh/20160330/349511LOGO ) ... Competitive Landscape Highlights - 2016, provides comprehensive ... Thalassaemia market valuations and forecast, Thalassaemia products ...
Breaking Medicine Technology: