Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia

2014-07-23 21:09:38 | BioPortfolio


The purpose of this study is to generate information about the hereditary basis of Congenital Diaphragmatic Hernia (CDH) and abnormal lung development. Our long-term goal, is to identify ways to pre-treat babies in utero with effective but safe drugs to speed up lung development before birth.


The purpose of this study is to generate information about the hereditary basis of Congenital Diaphragmatic Hernia (CDH) and abnormal lung development. Our long-term goal is to identify ways to pre-treat babies in utero with effective but safe drugs to speed up lung development before birth.

Congenital Diaphragmatic Hernia (CDH) is a frequent and often fatal developmental condition that appears to be caused by diverse, including genetic, factors. This project uses a combination of clinical, molecular biological, and developmental strategies to identify genetic causes of this anomaly.

Ongoing projects at Massachusetts General Hospital include identification of novel genes contributing to lung and diaphragm development in: a) rodent models (using laser capture, microdissection, expression arrays, and statistical and bioinformatics analyses); and b) human kindreds having multiple family members affected with CDH (using linkage analysis and exome sequencing approaches).

In the portion of the project based at Children's Hospital Boston, ongoing projects include: a) continued recruitment of a cohort of patients with CDH who are carefully phenotyped for entry into a structurally sound database; b) collection and storage of biological materials belonging to the phenotyped cohort of patients; c) next-generation sequencing on candidate genes; and d) molecular cytogenetic studies such as Comparative Genomic Hybridization and subtelomeric FISH.

Over 350 patients with CDH, and their parents, have been recruited to date. Efforts are ongoing to triple this number. The knowledge generated by uncovering genes responsible for CDH will provide the foundation for future efforts to develop effective interventions for this potentially devastating syndrome.

Study Design

Time Perspective: Prospective


Congenital Diaphragmatic Hernia


Meaghan Russell
United States




Massachusetts General Hospital

Results (where available)

View Results


Published on BioPortfolio: 2014-07-23T21:09:38-0400

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Medical and Biotech [MESH] Definitions

The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN.

Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.

STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, esophageal hiatus. When the ESOPHAGOGASTRIC JUNCTION is above the DIAPHRAGM, it is called a SLIDING HIATAL HERNIA. When the ESOPHAGOGASTRIC JUNCTION is below the DIAPHRAGM, it is called a PARAESOPHAGEAL HIATAL HERNIA.

A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.

A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA.

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