Molecular Genetics of Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) is a severe birth defect that affects approximately 1:3000 newborns. About 50% of cases are associated with other anomalies that can include structural anomalies of the CNS, seizures, developmental delay and mental retardation. In this project we are looking for single gene mutations and genomic rearrangements that can cause or predispose to CDH and its associated anomalies. It is likely that some of these genes/genomic regions will also play a role in the development of the brain.
In addition to our work on human subjects, we are creating and evaluating transgenic mouse models of CDH. As part of the phenotyping process, we look for evidence that the gene(s) we are targeting plays a role not only in CDH development but also in brain development and/or behavior.
Relevance of the project to IDDRC mission:
The stated goals of the BCM IDDRC are to identify as many causes as possible of mental retardation and disability, to prevent these disorders, and to provide interventional schemes that can improve the quality of life of affected individuals and their disability whenever possible. In our research on both human subjects and mouse models is likely that we will identify genes that not only cause or predispose to the development of CDH but are also important in brain development and behavior. Our findings may, in turn, provide the foundation from which new therapeutic interventions may be devised to improve the lives of individuals with defects in these genes/genomic regions.