Research Studies

Three Present Studies

We have two research studies at the present moment. One is to understand the causes of premature ageing, and another is the Virginia Commonwealth University on prenatal testing. They are all below.
Scientists at Virginia Commonwealth University are doing research to better understand the causes of premature aging that have been associated with Down syndrome. By studying people with mosaicism for Down syndrome we hope to gain insight as to the role that chromosomal factors play, if any, in advanced aging. In this new area of research we will gain information to answer the following questions: Do the ends of the chromosomes (which normally shorten with age) shorten at an increased rate in cells having an extra chromosome 21 compared to those without an extra chromosome 21? If there is a difference in the length of the caps of the chromosomes in trisomic compared to non-trisomic cells, does this difference increase with age? Can the length of the ends of chromosomes be used as a guide to recognize people who might be at risk for developing age-related health problems (such as dementia)? Since this new aspect of our study is focused on age-related chromosomal changes, we will gain the most information by studying the chromosomes of people with mosaicism who are 30 years of age or older, but are interested in getting samples from people with mosaicism from all age groups. If you would like to learn more about this study or are interested in helping with this research project please contact Dr. Colleen Jackson-Cook ( 804-828-9632 , ext 118; email: jacksonc@vcu.edu ) or Paulie Papavassiliou ( 804-828-9632 , ext 166; email: papavassilp@vcu.edu ). We will be happy to answer any questions you have about the project. There is no cost to participate in the study.
Was your child diagnosed prenatally with mosaic or non-mosaic Down syndrome? Researchers at Virginia Commonwealth University (formerly known as the Medical College of Virginia) are currently conducting a research study to better understand mosaic Down syndrome and gather information about experiences with prenatal testing. To conduct this study, we need help from families having a child who was diagnosed prenatally with mosaic Down syndrome. We are also interested in children diagnosed with non-mosaic Down syndrome to act as a control group. The study involves filling out a questionnaire about your child’s current health and interests as well as your own experience with prenatal testing. We are planning to use this information to provide a resource for other parents who receive a prenatal diagnosis of mosaic Down syndrome and health care providers. If you would like to learn more about this study or are interested in participating, please contact Lauren Vanner Nicely (804-828-9632 ext. 135) or Dr. Colleen Jackson-Cook (804-828-9632 ext. 118).