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While there is a lot of evidence that congenital heart disease can be caused by genetic mutations, many of the affected genes remain unknown. In the effort to discover more genetic causes, Children’s is joining with Brigham and Women’s Hospital (BWH) as part of the Bench to Bassinet Program, a six-year, $100 million collaboration funded by the National Heart Lung and Blood Institute that aims to propel basic pediatric cardiac research toward clinical treatment.
Jane Newburger, MD, MPH, associate cardiologist-in-chief at Children’s, and Christine Seidman, MD, director of the Cardiovascular Genetics Center at BWH, will lead the effort. Clinical geneticists and basic scientists will collect DNA samples from pediatric heart patients and map the genetic program that directs heart development. Patients will undergo cardiac imaging to establish their disease phenotype while their samples undergo DNA sequencing and genomic analysis.
The data will be combined with data from the other Pediatric Cardiac Genomics Consortium (PCGC) institutions funded by the Bench to Bassinet Program, including Yale University, Mt. Sinai School of Medicine, Columbia University and Children’s Hospital of Philadelphia. The partnership also allows the collaborators to share patient samples and technology.
“Competition inspires people to work quickly, but this particular area of research begs for collaboration,” says co-investigatorAmy Roberts, MD, director of Children’s Cardiovascular Genetics Research Program who, under separate grants, is studying the genetics of hypoplastic left heart syndrome and Noonan syndrome.
Separately funded projects byWilliam Pu, MD, of Children’s Cardiovascular Program, will use induced pluripotent stem cell technology to model congenital heart disease in the lab, and explore how alterations in microRNA expression and gene transcription factors may lead to heart disease.
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