Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
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.
Congenital Diaphragmatic Hernia
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia|
- identify genes associated with CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
whole blood, tissue, saliva, urine
|Study Start Date:||July 2002|
|Estimated Study Completion Date:||July 2015|
|Estimated Primary Completion Date:||July 2015 (Final data collection date for primary outcome measure)|
Congenital Diaphragmatic Hernia (CDH)
Individuals affected with congenital diaphragmatic hernia (CDH)
Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)
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.
|Contact: Meaghan Russell, MPH, PhDfirstname.lastname@example.org|
|Contact: Jessica Kim, BSemail@example.com|
|United States, Massachusetts|
|Massachusetts General Hospital||Recruiting|
|Boston, Massachusetts, United States, 02114|
|Contact: Meaghan Russell, MPH, PhD 617-726-0828 firstname.lastname@example.org|
|Principal Investigator: Patricia Donahoe, MD|
|Children's Hospital Boston||Recruiting|
|Boston, Massachusetts, United States, 02215|
|Contact: Jessica Kim, BS 617-355-2555 email@example.com|
|Principal Investigator: Jay Wilson, MD|
|Principal Investigator:||Patricia Donahoe, MD||Massachusetts General Hospital|
|Principal Investigator:||Jay Wilson, MD||Children's Hospital Boston|