Congenital heart defects (CHD) are the most common major human birth malformation, affecting \~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only to infectious diseases in contributing to the infant mortality rate. Current understanding of the etiology of pediatric cardiovascular disorders is limited. The Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) is a multi-center, prospective observational cohort study. Participants will be recruited from the Pediatric Cardiac Genomics Consortium's (PCGC) centers of the NHLBI-sponsored Bench to Bassinet (B2B) Program. Biological specimens will be obtained for genetic analyses, and phenotype data will be collected by interview and from medical records. State-of-the-art genomic technologies will be used to identify common genetic causes of CHD and genetic modifiers of clinical outcome. To accomplish this, the PCGC will develop and maintain a biorepository of specimens (DNA) and genetic data, along with detailed, phenotypic and clinical outcomes data in order to investigate relationships between genetic factors and phenotypic and clinical outcomes in congenital heart disease.
Congenital Heart Defects
Congenital heart defects (CHD) are the most common major human birth malformation, affecting \~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only to infectious diseases in contributing to the infant mortality rate. Current understanding of the etiology of pediatric cardiovascular disorders is limited. The Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) is a multi-center, prospective observational cohort study. Participants will be recruited from the Pediatric Cardiac Genomics Consortium's (PCGC) centers of the NHLBI-sponsored Bench to Bassinet (B2B) Program. Biological specimens will be obtained for genetic analyses, and phenotype data will be collected by interview and from medical records. State-of-the-art genomic technologies will be used to identify common genetic causes of CHD and genetic modifiers of clinical outcome. To accomplish this, the PCGC will develop and maintain a biorepository of specimens (DNA) and genetic data, along with detailed, phenotypic and clinical outcomes data in order to investigate relationships between genetic factors and phenotypic and clinical outcomes in congenital heart disease.
Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
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Children's Hospital Los Angeles, Los Angeles, California, United States, 90027
Stanford University, Palo Alto, California, United States, 94304
University of California, San Francisco, San Francisco, California, United States, 94158
Yale University, New Haven, Connecticut, United States, 06520
Brigham & Women's Hospital, Boston, Massachusetts, United States, 02115
Children's Hospital Boston, Boston, Massachusetts, United States, 02115
Cohen Children's Medical Center New York, New Hyde Park, New York, United States, 11040
Mount Sinai School of Medicine, New York, New York, United States, 10029
Columbia University Medical Center, New York, New York, United States, 10032
University of Rochester, Rochester, New York, United States, 14642
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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to 99 Years
ALL
No
Children's Hospital Medical Center, Cincinnati,
Amy Roberts, MD, PRINCIPAL_INVESTIGATOR, Childrens Hospital Boston
Christine Seidman, MD, PRINCIPAL_INVESTIGATOR, Harvard Medical School, Boston MA
Bruce Gelb, MD, PRINCIPAL_INVESTIGATOR, Mt Sinai School of Medicine, New York NY
Martina Brueckner, MD, PRINCIPAL_INVESTIGATOR, Yale University
Martin Tristani-Firouzi, MD, PRINCIPAL_INVESTIGATOR, University of Utah
Wendy Chung, MD, PhD, PRINCIPAL_INVESTIGATOR, Columbia University Medical Center, New York NY
Jon Cleveland, PRINCIPAL_INVESTIGATOR, Children's Los Angeles
2025-12