The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial. Multi-factorial inheritance is responsible for many common medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This type of inheritance pattern appears to involve environmental factors as well as a combination of genetic variations that together can predispose to or produce congenital anomalies, such as congenital diaphragmatic hernia. Our study is designed to establish a small, well-defined genetic resource consisting of 1) Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs, TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can be directly screened for allelic variation in candidate genes, and 3) Individuals who can serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their families will be collected from homogenous and heterogeneous populations. By characterizing diverse populations, it should be possible to increase the likelihood of demonstration of genetic variation in selected candidate genes that can then be used in association and linkage studies in individual subjects with congenital diaphragmatic hernia.
Congenital Diaphragmatic Hernia
The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of molecular pathogenesis and, ultimately, prevention or treatment of congenital diaphragmatic hernia. There are many different possible modes of inheritance for congenital anomalies, including autosomal dominant, autosomal recessive, and multifactorial. Multi-factorial inheritance is responsible for many common medical disorders, including hypertension, myocardial infarction, diabetes and cancer. This type of inheritance pattern appears to involve environmental factors as well as a combination of genetic variations that together can predispose to or produce congenital anomalies, such as congenital diaphragmatic hernia. Our study is designed to establish a small, well-defined genetic resource consisting of 1) Nuclear families suitable for linkage analysis by parametric,non-parametric (e.g. sib pairs, TDT) and association techniques, 2) Individuals with congenital diaphragmatic hernia who can be directly screened for allelic variation in candidate genes, and 3) Individuals who can serve as controls (are unaffected by congenital diaphragmatic hernia). Neonates and their families will be collected from homogenous and heterogeneous populations. By characterizing diverse populations, it should be possible to increase the likelihood of demonstration of genetic variation in selected candidate genes that can then be used in association and linkage studies in individual subjects with congenital diaphragmatic hernia.
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
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Rush Hospital, Chicago, Illinois, United States,
University of Michigan/ CS Mott Children's Hospital, Ann Arbor, Michigan, United States, 48167-5245
Washington University Medical Center/ St. Louis Children's Hospital, Saint Louis, Missouri, United States, 63110
Children's Hospital of Omaha/ University of Nebraska, Omaha, Nebraska, United States, 68114
Northwell Health, Manhasset, New York, United States, 11030
Morgan Stanley Children's Hospital of New York- Presbyterian (Columbia University Medical Center), New York, New York, United States, 10032
New York University, Hassenfeld Children's Hospital at NYU Langone Health, New York, New York, United States,
Cincinnati Children's Hospital and Medical Center/ University of Cincinnati, Cincinnati, Ohio, United States, 45229
Oregon Health & Science University, Doernbecher Children's Hospital, Portland, Oregon, United States, 97239
Children's Hospital of Pittsburgh/ University of Pittsburgh, Pittsburgh, Pennsylvania, United States, 15213
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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ALL
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Columbia University,
Yufeng Shen, PhD, PRINCIPAL_INVESTIGATOR, Columbia University
2025-11