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Researchers to investigate the genetics of congenital heart disease

Researchers at Children's Hospital Boston and Brigham and Women's Hospital have received funding from the National Heart, Lung, and Blood Institute (NHLBI) to support their search for undiscovered gene defects that cause congenital heart disease. The $4.19 million, 6-year grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease, and relate genetic variants present in the congenital heart disease patient population to clinical outcomes.

Though individual congenital heart defects are rare, together they affect 35,000-40,000 U.S. infants born annually, making congenital heart disease the most common group of birth defects. The ultimate goal of the PCGC, part of the newly established "Bench to Bassinet" initiative at NHLBI, is to identify preventive strategies, targets for treatment, and better diagnostic and prognostic information for families.

"Too many young lives are lost each year due to congenital heart defects," said Susan B. Shurin, MD, acting director of the National Heart, Lung, and Blood Institute at the National Institutes of Health. "To help give these children a chance at a healthier life, the Bench to Bassinet program will delve into how the cardiovascular system develops and help translate the best research findings into clinical practice."

"We are thrilled to be part of this ground-breaking new endeavor," says Jane Newburger, MD, MPH, Associate Chief for Academic Affairs in the Department of Cardiology at Children's, Commonwealth Professor of Pediatrics at Harvard Medical School, and Principal Investigator on the grant together with Christine E. Seidman, MD, Director of the Cardiovascular Genetics Center at Brigham and Women's Hospital and Thomas W. Smith Professor of Medicine at Harvard Medical School. Jonathan Seidman, PhD, Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics at Harvard Medical School, is also a key co-investigator. The other PCGC institutions are Yale University, Mt. Sinai School of Medicine, Columbia University, and Children's Hospital of Philadelphia.

Although a few genetic causes of congenital heart disease are already known, the researchers hope to zero in on novel, undiscovered genes. Because gene discovery research requires a high number of patient samples, a collaborative consortium such as the PCGC will propel research forward by allowing scientists to share patient samples, data and technology. "Everybody recognizes that no one center alone can do this research," Newburger says.

Several other Children's Hospital Boston researchers are co-investigators in the PCGC. Steven Colan, MD, Associate Chief for Clinical Operations in the Department of Cardiology and Professor of Pediatrics at Harvard Medical School, will lead the echocardiography and other cardiac imaging studies which are essential to characterize the exact form or "phenotype" of the patients' heart conditions. Roger Breitbart, MD, Assistant Professor of Pediatrics at Harvard Medical School, will serve as an important liaison between the clinical effort and research laboratory. Amy Roberts, MD, Assistant Professor in Pediatrics at Harvard Medical School, will lead the recruitment of new patients and collection of DNA.

"Competition inspires people to work quickly, but this particular area of research begs for collaboration," says Roberts, who is Director of the Cardiovascular Genetics Research Program at Children's. "The collaborative effort is the only way we have a chance of making big discoveries in a short period of time."

Related efforts at Children's

Roberts also has a grant to study hypoplastic left heart syndrome from the Manton Center for Orphan Disease Research, and collaborates with Raju Kucherlapati, PhD, the senior investigator of a gene discovery study for Noonan Syndrome, a condition that can cause congenital heart defects and learning problems.

William Pu, MD, of Children's Cardiovascular Program has been named an investigator in the NHLBI Cardiovascular Development Consortium (CvDC), the basic science arm of the Bench to Bassinet initiative that aims to discover the molecular networks that regulate cardiovascular development. Pu is using induced pluripotent stem cell (iPS) technology to reprogram patients' skin cells into heart cells in laboratory cultures. Study of these heart cells will provide new understanding of the development of congenital heart defects. Pu has also received a Harvard Catalyst Grant to study how the regulation of cardiac genes by microRNAs may lead to heart disease.

Newburger is also the Principal Investigator at Children's Hospital Boston for the Pediatric Heart Network grant, the clinical research consortium of the Bench to Bassinet Program. The Pediatric Heart Network conducts clinical research studies to evaluate treatments for and associated outcomes of pediatric patients with complex congenital heart disease and other cardiac conditions.

Related efforts at Brigham and Women's Hospital

Jonathan Seidman, PhD, is Principal Investigator on the CvDC grant, the basic research consortium in the Bench to Bassinet program. The CvDC seeks to generate and disseminate comprehensive data about the molecular networks and pathways that regulate cardiovascular development.


Contact: Rob Graham
Children's Hospital Boston

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