Saturday, February 25, 2012

Is CDH Genetic? - Guest Speaker Meaghan Russell, MPH, PhD

Meet our guest speaker...

Meaghan Russell, MPH, PhD
Pediatric Surgical Research Laboratories
MassGeneral Hospital for Children

Click here to go to the CDH Q&A on Genetics!


Because there is a massive amount of misinformation and inaccurate medical advice being posted lately on Facebook on different pages and groups and many parents seem confused about CDH and genetics and the possible causes of Congenital Diaphragmatic Hernia we have asked geneticist and CDH expert, Meaghan Russell, to guestspeak here on our Facebook page to answer any questions that you may have about possible causes, current research, familial CDH, etc.

Please post your questions as comments to this note and she will answer as her schedule allows. 

*** Please note that Meaghan cannot give medical advice or diagnosis your cherub via the internet! ***

Meaghan Russell and Mauro Longoni at the 2011 CDH Conference


View videos from Meaghan's lectures at the CDH conference at or



"Congenital diaphragmatic hernia candidate genes
derived from embryonic transcriptomes"

Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live
births) major congenital malformation that results in significant
morbidity and mortality. The discovery of CDH loci using standard
genetic approaches has been hindered by its genetic heterogeneity.
We hypothesized that gene expression profiling of developing
embryonic diaphragms would help identify genes likely to be
associated with diaphragm defects. We generated a time series of
whole-transcriptome expression profiles from laser captured em-
bryonic mouse diaphragms at embryonic day (E)11.5 and E12.5
when experimental perturbations lead to CDH phenotypes, and
E16.5 when the diaphragm is fully formed. Gene sets defining
biologically relevant pathways and temporal expression trends
were identified by using a series of bioinformatic algorithms. These
developmental sets were then compared with a manually curated
list of genes previously shown to cause diaphragm defects in
humans and in mouse models. Our integrative filtering strategy
identified 27 candidates for CDH. We examined the diaphragms of
knockout mice for one of the candidate genes, pre–B-cell leukemia
transcription factor 1 (Pbx1), and identified a range of previously
undetected diaphragmatic defects. Our study demonstrates the
utility of genetic characterization of normal development as an in-
tegral part of a disease gene identification and prioritization strat-
egy for CDH, an approach that can be extended to other diseases
and developmental anomalies.

Click here to go to the CDH Q&A on Genetics!

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