The Importance of Research for Down Syndrome

Down Syndrome is the most frequently occurring chromosomal disorder and is the leading cause of intellectual and developmental delay not only in the U.S., but around the world. Despite this, it is the least-funded major genetic condition by the U.S. National Institutes of Health.

Around 94 percent of all Down syndrome cases occur when a person has three copies of chromosome 21 instead of the usual 2 copies. There are also two other types—Translocation Down Syndrome and Mosaic Down Syndrome—that occur very rarely. Why this chromosomal abnormality occurs is unknown.

Individuals with Down syndrome are predisposed to certain medical conditions, and are at a lower risk than the rest of the general population for others. According to the Global Down Syndrome Foundation, an estimated 50% of those born with Down syndrome will also be born with a congenital heart defect, around 70% will have sleep apnea, and up to 50% will experience early onset Alzheimer’s disease. There may also be an increased risk of celiac disease, autism, childhood leukemia, and seizures. On the other hand, solid tumor cancers and cardiovascular disease including heart attack and stroke rarely occur in someone with the syndrome.

By researching the effects of Down syndrome, scientists can help improve the lives of those who live with it every day. This will help with earlier therapies that can make a difference in a child’s development, and help find ways to assist those with Down syndrome live healthier, happier, more
productive, and more independent lives. This research may also be able to help identify the causes of some of the conditions that people with Down syndrome are at higher or lower risk for, potentially also helping the tens of millions of people living with those conditions.

Per the National Institutes of Health (NIH), “groundbreaking scientific advances in the present and the past were possible only because of participation of volunteers, both healthy and those with an illness, in clinical research…As research opens new doors to finding ways to diagnose, prevent, treat, or cure disease and disability, clinical trial participation is essential to help us find the answers.”

Meridien Research is currently enrolling studies related to Down Syndrome at our Lakeland clinic. For more information or to see if you or someone you know may qualify to participate, please contact us today at 1-888-777-8839 or visit