Emory Down Syndrome Project
The Emory Down Syndrome Project is designed to learn more about the cause of Down syndrome and its related medical problems. We hope to uncover new information about:
- What causes an extra chromosome 21 to be packaged into an egg or sperm?
- Are there any important factors in a person's history that may increase the chance for having a child with Down syndrome?
- How does the age of a woman influence the behavior of chromosomes during the formation of an egg?
- What genetic and/or environmental variants play a role in the susceptibility of specific medical problems associated with Down syndrome? Where can we intervene to reduce the occurrence of these medical problems?
What will I be asked to do if I participate?
We are asking families with a child with Down syndrome to participate in the Emory Down Syndrome Project. Participation involves four steps:
- We interview the mother by telephone. The interview takes about 45 minutes. Questions cover a broad range of topics, including health and reproductive history, family health history, and environmental exposures.
- Both parents and the child donate a small blood sample or saliva sample. Children's blood can be collected along with a medically necessary blood draw. These samples are our source of the DNA that we need to study the behavior of chromosomes and the genes on chromosome 21.
- We ask parents for permission to obtain their child's medical records to check for any of the medical problems often seen in individuals with Down syndrome.
What will you do with the DNA samples?
We use DNA samples to study chromosome behavior related to Down syndrome only. In the future, if we want to use your DNA to study something other than Down syndrome, we will ask your permission first.
How will you protect my family's privacy?
Information you give us during the interview, as well as lab results from the samples you provide, are kept confidential. This means:
- Numbers instead of names are used to identify participants' samples and interviews.
- Personal information about you will not be available to anyone outside this study.
- We will never use your name or your family's name in any report or publication.
- No information from this study will be entered into your child's medical record.
I would like to participate. How do I to that?
If you would like to participate in the Emory Down Syndrome Project email Helen Smith at firstname.lastname@example.org.