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.
About Albert Einstein College of Medicine of Yeshiva University
Albert Einstein College of Medicine of Yeshiva University is one of the nation's premier centers for research, medical education and clinical investigation. During the 2009-2010 academic year, Einstein is home to 722 M.D. students, 243 Ph.D.students, 128 students in the combined M.D./Ph.D. program, and approximately 350 postdoctoral research fellows. The College of Medicine has 2,775 fulltime faculty members located on the main campus and at its clinical affiliates. In 2009, Einstein received more than $155 million in support from the NIH. This includes the funding of major research centers at Einstein in diabetes, cancer, liver disease, and AIDS. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Through its extensive affiliation network involving five medical centers in the Bronx, Manhattan and Long Island - which includes Montefiore Medical Center, The University Hospital and Academic Medical Center for Einstein - the College of Medicine runs one of the largest post-graduate medical training programs in the United States, offering approximately 150 residency programs to more than 2,500 physicians in training. For more information, please visit www.einstein.yu.edu