CHERUBS Medical Expert Series: CDH & Genetics (Nov 4-11, 2013)

[Dawn Torrence Ireland]

Julia Wynn, MS of DHREAMS Research Study (Congenital Diaphragmatic Hernia) will guest speak and answer your questions about genetics on CHERUBS CDH Family Forums during November 4th through the 11th.

DHREAMS (Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science) study was created to improve the understanding of the molecular genetic basis of CDH. This National Institute of Health (NIH)-funded research team is composed of health care providers and researchers across the country, coordinated at Columbia University Medical Center. Multiple medical centers are enrolling individuals and families with CDH. The knowledge gained through this research will lead to improved diagnosis, treatment, and quality of life for individuals and families with CDH.

The DHREAMS study is an NIH funded multicenter national research study of congenital diaphragmatic hernia (CDH). The goal of our study is to improve the understanding of the causes of CDH. http://www.cdhgenetics.com/

All forum rules of courteous behavior apply and will be enforced if necessary.

[ClairMaher]

I am here in the UK and have met and also spoken to Julia , no research takes place here in the UK specifically into CDH so it is wonderful to be able to participate in Dreams .

[SandiL]

Hi Julia,

I have always been interested in genetics even prior to my being diagnosed with cdh. I was diagnosed when I was an adult. How close are geneticists at finding the genes responsibe to cdh. Do you think that there are more than one gene responsible. Why do you think that some cdh babies only have cdh and others have multiple congenital abnormalities?

Why are geneticists or other cdh physicians not producing studies of long term issues with cdh. Perhaps there is information to be learned from adult cdh patients that could lead to insight that could unravel the cdh mystery genes.

Thank you for participating in the cdh expert series.

Sandi

[JuliaWynnMS]

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!

[Dawn Torrence Ireland]

Julia will be joining us today. Please feel free to start posting your questions.

Please also remember that Julia cannot diagnose your cherub or give you medical advise. She can only share the work of DHREAMS and answer general genetic questions.

[mandymorena]

Hello Jullia,
does the 17th chromosomes having and extra piece show up a lot on CDH babies?

[Chris and TracyMeats]

My question is the genes that you are finding through research that may be a cause of CDH, are they genes that are hereditary? Will my son who was born with CDH, have a higher probability of having CDH children (is the CDH gene going to be passed on)? As far as we know, my son's CDH was an isolated case, not linked to a genetic abnormality.

In the DREAMS research, if CDH has a genetic component, are you finding their may possibly be an environmental factor triggering the CDH in these genes?

[CaseyFBarnhill]

Hi Julia,
My question would be since there are some families where more than one of their children have CDH is it likely that the parents genes are mutated. For instance ny husband had a minor heart attack at age 30 . Would it most likely be his genetic coding?

[eglopez]

Hi , Julia!
I am a survivor & my grandfather was diagnosed at age 90 with CDH. Is it possible that it can skip a generation? So, my grandchildren may be at risk?
Also, I have observed that many of those affected are, for lack of a better term, wall-eyed (eyes turn outward). This is a trait found in my family as well (my grandfather included). Could there be a link or is it just another mid-line defect?

[AmandaPlakholm]

Hi Julia, after reading everyone's questions over mine have been covered. Just wanted to say thanks for all the great work you do and helping Cherubs and their families!