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:6/27/2016)... Viejo, California (PRWEB) , ... June 27, 2016 , ... ... are fully customizable inside of Final Cut Pro X," said Christina Austin - CEO ... another unique style. Final Cut Pro X users can now reveal the ...
(Date:6/27/2016)... , ... June 27, 2016 , ... TopConsumerReviews.com recently awarded ... Eyeglasses . , Millions of individuals in the United States and Canada wear ... a way to both correct vision and make a fashion statement. Even celebrities use ...
(Date:6/26/2016)... Carolina (PRWEB) , ... June 26, 2016 , ... ... of a new product that was developed to enhance the health of felines. The ... centuries. , The two main herbs in the PawPaws Cat Kidney Support ...
(Date:6/25/2016)... ... ... Austin residents seeking Mohs surgery services, can now turn to Dr. Jessica ... Peckham for medical and surgical dermatology. , Dr. Dorsey brings specialization to include Mohs ... Mohs Micrographic Surgery completed by Dr. Dorsey was under the direction of Glenn Goldstein, ...
(Date:6/25/2016)... Long Beach, CA (PRWEB) , ... June 25, 2016 , ... ... from UCLA with Magna Cum Laude and his M.D from the David Geffen School ... San Diego and returned to Los Angeles to complete his fellowship in hematology/oncology at ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... 2016  MedSource announced today that it has ... solution of choice.  This latest decision demonstrates MedSource,s ... their clients by offering a state-of-the-art electronic data ... nowEDC as the EDC platform of choice in ... "nowEDC has long been a preferred EDC platform ...
(Date:6/23/2016)... -- Roche (SIX: RO, ROG; OTCQX: RHHBY) announced that ... PCT (procalcitonin) assay as a dedicated testing solution for ... clearance, Roche is the first IVD company in the ... risk assessment and management. PCT is a ... in blood can aid clinicians in assessing the risk ...
(Date:6/23/2016)... June 23, 2016 , , ... July 7, 2016 , , , , LOCATION: , , ... , , , EXPERT PANELISTS:  , , , Frost & ... Analyst, Christi Bird; Senior Industry Analyst, Divyaa Ravishankar and Unmesh Lal, ... The global pharmaceutical industry is witnessing an exceptional era. Several new ...
Breaking Medicine Technology: