Navigation Links
Einstein College of Medicine given $6.7 million to study congenital heart defect genetics
Date:10/11/2011

October 11, 2011 (Bronx, NY) The Eunice Kennedy Shriver National Institute of Child Health & Human Development, part of the National Institutes of Health, has awarded researchers at Albert Einstein College of Medicine of Yeshiva University and collaborators at the Children's Hospital of Philadelphia (CHOP) a five-year, $6.7 million grant to study the genetics of both rare and common congenital heart abnormalities known as conotruncal defects (CTDs).

CTDs account for more than one-third of all heart defects. They can involve a faulty connection between the heart's chambers or an abnormality affecting a major blood vessel leaving the heart. Some of the more common CTDs include ventricular septal defects and tetralogy of Fallot.

"We hope that this project will greatly expand our understanding of the genetic basis of CTDs and lead to novel therapies and preventive strategies for these defects," said principal investigator Bernice Morrow, Ph.D., director of translational genetics, professor of genetics and the Sidney L. and Miriam K. Olson Chair in Cardiology at Einstein. Dr. Morrow has appointments in obstetrics & gynecology and women's health and pediatrics.

The first part of Dr. Morrow's study will examine CTDs occurring in patients with velo-cardio-facial/DiGeorge syndrome, also called 22q11.2 deletion syndrome (22q11DS). The syndrome is caused by the deletion of a small piece of chromosome 22 known as q11.2. This deletion, present in about one in every 4,000 live births, can cause a variety of developmental abnormalities in addition to CTDs, including immune deficiencies, mild craniofacial deformities and behavioral or intellectual disabilities. There is no cure for the disorder. Dr. Morrow and collaborators at CHOP have formed an International 22q11.2 Consortium to greatly expand the number of samples obtained for research.

TBX1, one of the genes in the deleted 22q11.2 region, is largely responsible for the physical abnormalities in the disorder. Since the symptoms of 22q11DS vary from mild to serious, Dr. Morrow believes that DNA variations in other genes may influence disease severity. Her continued research funded by this grant will involve tracking down these "modifier genes" and determining how they interact with each other and with TBX1. She will be using DNAs from human subjects and mouse models of the syndrome in her research.

In another part of the study, the researchers will examine whether genes involved in 22q11DS also play a role in "non-syndromic" CTDs. These defects are more common than the CTDs associated with 22q11DS and thus relevant to a larger number of people.


'/>"/>

Contact: Kim Newman
sciencenews@einstein.yu.edu
718-430-3101
Albert Einstein College of Medicine
Source:Eurekalert

Related biology news :

1. Einstein researchers develop a new way to study how breast cancer spreads
2. Einstein researchers develop technique to count messages made by single genes
3. Einstein scientists receive $10 million NIH grant
4. Empire State Stem Cell Board awards $12.7 million to Albert Einstein College of Medicine
5. Einstein and Pitt researchers develop new TB test that will dramatically cut diagnosis time
6. NIH funds research center for womens reproductive health at Einstein
7. Einstein researchers devise a fast and sensitive way to detect ricin
8. Einstein scientists move closer to a safer anthrax vaccine
9. Einstein receives high-risk/high-reward cancer research funding
10. Einstein to develop anti-HIV drug delivery system
11. Einstein researchers discover 2 new ways to kill TB
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/2/2016)... Texas , Dec. 1, 2016   ... today announced BioLock , an electrocardiogram (ECG) ... health monitoring, a key IoT asset. The smart ... into a vehicle,s steering wheel and mobile devices ... simple touch. As vehicle technology advances, ...
(Date:11/30/2016)... 30, 2016  higi SH llc (higi) announced ... targeting national brands, industry thought-leaders and celebrity influencers ... audiences for taking steps to live healthier, more ... 2012, higi has built the largest self-screening health ... million people who have conducted over 185 million ...
(Date:11/29/2016)... 29, 2016   Neurotechnology , a ... recognition technologies, today released FingerCell 3.0, a ... solutions that run on low-power, low-memory microcontrollers. ... less than 128KB of memory, enabling it ... have limited on-board resources, such as: mobile ...
Breaking Biology News(10 mins):
(Date:12/2/2016)... ... 2016 , ... The Conference Forum has announced that the 3rd annual ... on February 1-3, 2017 at the Roosevelt Hotel in New York City. Led by ... unique 360-degree approach, which addresses the most up-to-date information regarding business aspects, clinical advancements ...
(Date:12/2/2016)... ... December 02, 2016 , ... Robots will storm the Prudential Center ... 3rd, 2016. The event, which is held on the United Nations International Day of ... Disabilities back into the workplace. Suitable Technologies is partnering with NTI to showcase how ...
(Date:11/30/2016)... , ... November 30, 2016 , ... ... moving magnet Voice Coil Actuator with a flexure design that ensures high alignment ... with cost-effective pricing and is ideally suited where extreme precision is required, such ...
(Date:11/30/2016)... Nov. 30, 2016 Biotest Pharmaceuticals Corporation (BPC), ... to announce the addition of its newest plasma collection ... Nebraska . The 15,200 square foot state-of-the-art facility ... 2016 and brings the total number of BPC,s plasma ... Carlisle , BPC,s Chief Executive Officer said "We are ...
Breaking Biology Technology: