Updates on the work of the DHREAMS Study
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DHREAMS has had a fantastic spring with a dramatic increase in our enrollment. We currently have over 150 participants in the study. Our increase in recruitment is owed in large part to the hard work of CDH family support groups and individual families who have worked to increase knowledge of the CDH research. We now have participants from over 30 different states and Canada.
Exome Sequencing
Representative from all of the DHREAMS research study sites met this spring to discuss our progress to date as well as DHREAMS future endeavors. This summer we will begin using a new technology to identify
genetic changes that cannot be detected by
microarray analysis. This technology called exome sequencing involves isolating and sequencing all of our exons. The exons are the coding portions of our genes or the part of our genes that contain the information that tell our body how to grow and develop. Through exome sequencing all 30,000 genes can be analyzed simultaneously. Our complete set of exons or our exome makes up approximately one percent of all of our genetic material and therefore exome sequencing is more efficient than standard whole genome sequencing in which all of the genetic material is sequenced. Exome sequence will be a valuable tool to identify new genetic mutations associated with CDH. We are especially interested in families with more than one case of CDH in the family for these studies.
Long term development
In addition to DHREAMS’s focus on the genetic causes of CDH, we are one of the first studies to follow the long term development of children affected by CDH. All children who have been part of the DHREAMS study since birth have a formal developmental study, including the Bayley III and Vineland, at 2 years of age.
The Bayley III is a standardized assessment of motor, language, and cognitive development while the Vineland is a standardized assessment of personal and social skills. Through these assessments we will learn more about the long term development of children affected with CDH and the risk for developmental delays as related to underlying genetic causes. This information will provide parents and health care providers with the necessary tools to implement appropriate therapies and educational interventions.
Recruitment
We have made participation in DHREAMS even easier by teaming up with a mobile phlebotomy company that is able come to your home to draw blood. This service is available for anyone 8 years of age or older. We will continue to help your family to locate somewhere close to your home where you can take your younger children for a blood draw.
We have also had the opportunity to attend several CDH patient support group meetings where we have educated the members about the DHREAMS study and offered enrollment. These meetings have been a wonderful opportunity to meet some amazing families affected by CDH face to face.
If you would like DHREAMS to attend your meeting, please contact our research coordinator, Julia Wynn, at
jw2500@columbia.edu.
Click here to find out more about how to participate in the DHREAMS study.
We currently have over 100 participants in our research study and have completed preliminary genetic analysis on 83 cases (approximately 50% female and 50% male). Approximately 85% had a left CDH and 15% had a right CDH; 70% had an isolated CDH, while 30% had one or more additional congenital anomalies.
A total of four (4.8%) cases in our study population had identified chromosome anomalies. Two cases had chromosome anomalies that were detected by chromosome analysis and two cases had chromosome anomalies that were detected by DNA microarray; one case had a microduplication and one case had a microdeletion. The specific microdeletion identified had not previously been identified in a CDH case.
All four cases with an identified chromosome anomaly had additional congenital anomalies that were diagnosed in the newborn period and three of the four cases passed away in the newborn period from complications of their anomalies. The fourth case has some degree of developmental delay and dysmorphic features at 18 months of age.
Future genetic analyses conducted by the DHREAMS research team will include genetic sequencing of specific genes suspected to be important in the formation of diaphragm. It is likely, that some cases of CDH without an identified chromosome anomaly have a mutation in a single gene.
Because of the genetic heterogeneity (many different genetic causes) of CDH, one of the greatest challenges of identifying the genetic causes of CDH is the large number of CDH cases that must be included in a study. It is only through the generosity of families affected by CDH that we will reach our goal of understanding the genetics of CDH and improving diagnosis and treatment of CDH.
