Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
| Status: | Recruiting |
|---|---|
| Conditions: | Gastrointestinal |
| Therapuetic Areas: | Gastroenterology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | July 2002 |
| End Date: | July 2017 |
| Contact: | Jessica Kim, BS |
| Email: | jessica.kim2@childrens.harvard.edu |
| Phone: | 617-355-2555 |
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates
the chest cavity from the abdominal cavity, does not form properly. When an opening is
present in the diaphragm, organs that are normally found in the abdomen can move up into the
chest cavity. The primary objective of this study is to generate information about the
hereditary basis of congenital diaphragmatic hernia and abnormal lung development. Our
long-term goal is to identify ways to treat babies in utero with effective but safe drugs to
speed up lung development before birth.
the chest cavity from the abdominal cavity, does not form properly. When an opening is
present in the diaphragm, organs that are normally found in the abdomen can move up into the
chest cavity. The primary objective of this study is to generate information about the
hereditary basis of congenital diaphragmatic hernia and abnormal lung development. Our
long-term goal is to identify ways to treat babies in utero with effective but safe drugs to
speed up lung development before birth.
This study uses a combination of clinical, molecular biological, and developmental
strategies to better understand the genetic basis of congenital diaphragmatic hernia.
Ongoing projects at Massachusetts General Hospital include identification of novel genes
affecting diaphragm and lung development in a) mouse models using laser capture,
microdissection, expression arrays, and statistical and bioinformatics analysis and b) human
kindreds with multiple affected family members using linkage analysis and exome sequencing.
Research projects based at Children's Hospital Boston include a) continued recruitment of a
population of patients with congenital diaphragmatic hernia who are carefully phenotyped for
entry into an extensive database, b) collection of biological samples 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
fluorescence in situ hybridization.
Over 500 patients with congenital diaphragmatic hernia and their families have been
recruited to date and efforts are ongoing to double this number. The investigators hope that
the information gained through identifying the genes that contribute to congenital
diaphragmatic hernia will provide the foundation for future efforts to develop effective
interventions for the treatment of this disease.
strategies to better understand the genetic basis of congenital diaphragmatic hernia.
Ongoing projects at Massachusetts General Hospital include identification of novel genes
affecting diaphragm and lung development in a) mouse models using laser capture,
microdissection, expression arrays, and statistical and bioinformatics analysis and b) human
kindreds with multiple affected family members using linkage analysis and exome sequencing.
Research projects based at Children's Hospital Boston include a) continued recruitment of a
population of patients with congenital diaphragmatic hernia who are carefully phenotyped for
entry into an extensive database, b) collection of biological samples 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
fluorescence in situ hybridization.
Over 500 patients with congenital diaphragmatic hernia and their families have been
recruited to date and efforts are ongoing to double this number. The investigators hope that
the information gained through identifying the genes that contribute to congenital
diaphragmatic hernia will provide the foundation for future efforts to develop effective
interventions for the treatment of this disease.
Inclusion Criteria:
All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family
history of CDH
Exclusion Criteria:
Individuals with no personal or family history of a CDH
We found this trial at
1
site
Boston, Massachusetts 02115
Principal Investigator: Jay Wilson, MD
Phone: 617-355-2555
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