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:4/5/2017)... , April 5, 2017  The Allen Institute for ... Cell Explorer: a one-of-a-kind portal and dynamic digital window ... imaging data, the first application of deep learning to ... stem cell lines and a growing suite of powerful ... for these and future publicly available resources created and ...
(Date:4/4/2017)... , April 4, 2017   EyeLock LLC , ... that the United States Patent and Trademark Office (USPTO) ... covers the linking of an iris image with a ... and represents the company,s 45 th issued patent. ... is very timely given the multi-modal biometric capabilities that ...
(Date:3/30/2017)... The research team of The Hong Kong ... identification by adopting ground breaking 3D fingerprint minutiae recovery and matching ... and accuracy for use in identification, crime investigation, immigration control, security ... ... A research team led by ...
Breaking Biology News(10 mins):
(Date:9/20/2017)... ... 2017 , ... The award-winning producers behind the American Farmer ... innovations aimed at helping farmers solve the problem of nitrogen loss. The upcoming ... 8:30aET on RFD-TV. Check your local listings for more info. , As ...
(Date:9/20/2017)... , ... September 20, 2017 , ... ... and Huron Digital Pathology , a provider of whole slide imaging solutions, ... Visions conference . The workshop, entitled “Successfully Deploying a Best-in-Class Strategy for Digital ...
(Date:9/20/2017)... ... September 20, 2017 , ... RoviSys, a leading independent provider ... opening of an office in Taipei, Taiwan. This new location allows RoviSys to ... new relationships in the region. Located in the Neihu area of Taipei, the ...
(Date:9/19/2017)... Poway, CA (PRWEB) , ... September 19, 2017 , ... VetStem Biopharma ’s CEO ... H. Riordan PA, PhD in Riordan’s new book "Stem Cell Therapy: A Rising Tide". ... past 14 years. They bonded over an interest in the potential of stem cell ...
Breaking Biology Technology: