Researchers will be available to meet with self-advocates and parents throughout the conference, with an option to schedule personalized appointments throughout the R&R weekend to answer your specific questions, listen to your suggestions and experiences related to mosaic or non-mosaic Down syndrome.
To get more information about the researchers that will be attending the Research and Retreat weekend, see below.
If you are interested in participating in research during the conference, you can indicate your interest by checking the box on the registration form indicating your interest in research participation.
Approximately two weeks prior to our Research and Retreat Weekend, you will receive an email from IMDSA with details. This email is used to determine when your family will arrive at the conference, which research in which you want to participate, the form of Down syndrome your child has, as well as their age and gender. Once that information is received, another email will be sent to you by the Wednesday evening prior to the event with your research schedule for Saturday and any necessary documents or information needed for the research.
*Please note participation in research is optional and free of charge. *
*Sign-up to participate will open 4-6 weeks before the R&R.*
Research Study: Longitudinal study on Mosaic Down Syndrome
Researcher: Colleen Jackson-Cook, PhD
Study Description
The goal of this research is to better understand the health and development problems people with
mosaic Down syndrome or Down syndrome might experience. In this study, we will compare biological patterns
and health traits from people of different ages. We will also compare patterns from the same person over time (for
example, at age 1 and age 5; or age 5 and 20, etc). We are especially interested in collecting new specimens and
data from people who have previously participated in our study.
What will I do if I participate in this new longitudinal (follow-up over time) study?
1. Discuss questions/concerns you may have
2. Have your face, hands, and appearance reviewed by a genetics doctor
3. Complete a health and lifestyle questionnaire about you/your child
4. Provide photos of you/your child from infancy to their current age
5. Decide if you want to include your/your child’s data/specimens in a research repository and/or registry.
6. Have the inside of both cheeks rubbed with a toothbrush
7. Have blood collected (about 2 ½ tablespoons)
We expect that it will take about 45 minutes to complete the activities for this study. You can elect to
participate at an IMDSA Research and Retreat conference or participate remotely. If you are interested in joining,
we can discuss how the remote or on-site specimen collection processes work.
What will I receive from participating in this study?
1. A report of the percentage of trisomic cells present in the specimens you provide (blood and/or cheek)
2. A $30 gift card
How can I learn more about this study?
If you would like to learn more about this research project, you can contact Dr. Jackson-Cook via email or by
phone. She would be happy to tell you more about the project. She will also provide information about the study
at the IMDSA annual retreat.