Sandi,

You pose some very interesting questions and I will do my best to answer them in text form
1) Genes associated with CDH - We and other studies have identified over 20 genes that are important for the development of the diaphragm and when there is a genetic mutation or a deletion of that gene a CDH can occur. We think though that it is just the tip of the ice berg and other studies into the development of the diaphragm suggest that there are at least 100 genes that play a role in the diaphragm
2) Babies with CDH and other birth defects? We know that 50-60% of babies with a CDH have a second birth defect. This can be for several reasons. Sometimes it is because the baby had a deletion of a portion of a chromosome and therefore is missing multiple genes that are important for many different aspects of development (for example heart, diaphragm, brain). Other children have a mutation in only one gene but that gene is important for the development of multiple organs. For example, we know that a gene called GATA4 is important in the development of the heart and the diaphragm so some babies with mutations in this gene have just a heart defect, some have just a diaphragm defect and some have both a heart and a diaphragm defect.
3) Research studies? DHREAMS is currently conduction long term follow up studies of children with a CDH. We are preparing a newsletter that discusses our finding of following over 40 children with a CDH until 2 years of age and we are now following these children and more to 5 years of age. Unfortunately research is expensive and not everyone has the funding to do the important studies that they want to do. We are always very grateful when organizations like Cherubs helps us to raise important research funds!

Thank you for your very insightful questions!