Down Syndrome Pediatric Research and Clinical Trials

Boston Children’s Hospital's Intellectual and Developmental Disabilities Research Center (IDDRC) is one of 20 research centers around the country dedicated to the study of intellectual and developmental disabilities, with the goal translating basic research into improved care approaches. Our scientists are conducting genetic, molecular, behavioral and biobehavioral research on Down syndrome, Fragile X and Rett syndrome to advance the diagnosis and treatment of these developmental disabilities.

Our Boston Children’s Hospital Down Syndrome Program also collaborates with the Translational Neuroscience Center and the Laboratories of Cognitive Neuroscience at Boston Children’s Hospital and Harvard Medical School.

Cancers and Down Syndrome

Research has shown that an extra copy of chromosome 21 could be the reason why people with Down syndrome have a lower rate of some forms of cancer than the general population. Some scientists believe that people with Down syndrome may be getting an extra dose of one or more cancer-protective genes because they have an extra copy of chromosome 21.

The late cancer researcher Judah Folkman, MD, founder of the Vascular Biology Program at Boston Children's, first hypothesized that they might be benefiting from a gene that blocks angiogenesis, the development of blood vessels essential for cancer's growth, since their incidence of other angiogenesis-related diseases like macular degeneration is also lower. A study from Children's confirms this idea in mice and human cells and identifies specific new therapeutic targets for treating cancer.

Folkman's interest in why patients with Down syndrome have such a reduced risk for cancer focused on endostatin, an anti-angiogenic compound made by the body. Discovered in the Folkman lab, endostatin is a fragment of collagen 18--whose gene is also on chromosome 21. People with Down syndrome reportedly have almost doubled levels of endostatin because of the extra copy of the gene.

Cancer researcher Sandra Ryeom, PhD, from Boston Children's Vascular Biology Program worked in collaboration with George Daley, MD, PhD, in the Stem Cell Program at Boston Children's. Their research helped validate and confirm that the suppression of angiogenesis that seen in mouse models also holds true in humans.

Obstructive sleep apnea study at the Down Syndrome Program

Obstructive sleep apnea or OSA is highly prevalent in children and young adults with Down syndrome. In conjunction with the Down syndrome program, Boston Children’s took part in a study to help develop a screening tool that is comfortable, practical, and most importantly, effective for diagnosing OSA in individuals with Down syndrome.

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