Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

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.