Information on how to participate in the Congenital Diaphragmatic Hernia (CDH) Study.

FAQ (How to Participate)

For over 10 years, a dedicated team of clinicians at MassGeneral Hospital for Children and Children’s Hospital Boston, scientists, and collaborators world-wide have been working together to better understand the genetic mechanisms underlying congenital diaphragmatic hernia (CDH) and abnormally small lungs (pulmonary hypoplasia).  The cornerstones of this project are the individualized assessment of CDH patients, state of the art genetic screening, and integration of data from animal models (i.e. mice, chicks and flies) to identify new genes and molecular pathways necessary for diaphragm and lung development.  We hope to harness the benefit of genetic analyses/testing to find potential treatment strategies that may prevent or alleviate CDH and pulmonary hypoplasia in the future.

We are particularly interested in finding a non-invasive pharmacologic approach to enhance maturation of hypoplastic lungs in utero. It is our estimation that even a small improvement of lung function prenatally, would have a profound effect on improving survival and reducing long term complications. 

The CDH study, which is funded by the National Institutes of Health, has recently expanded to include several additional research centers, which have world-renowned expertise in analyses of whole-genomic variation, mutant mouse model development and embryonic characterization, and bioinformatic assessment of complex anomalies.  It is with great hope that our strategy will serve as a model for studies of other genetically complex congenital malformations.