Research & Innovation
Children’s Hospital Boston’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.
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 Children's, popularized the notion 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 Children's Vascular Biology Program worked in collaboration with George Daley, MD, PhD, in the Stem Cell program at 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, Children’s is conducting a study to help develop a screening tool that is comfortable, practical, and most importantly, effective for diagnosing OSA in individuals with Down syndrome.
Right now, we are inviting all children with Down syndrome ages 3-18, to participate. All participants must be patients who already have a scheduled visit in our Program. As part of the study, all participants will be evaluated for OSA. If you, or someone you know would be interested in learning more, please email Lauren Voelz for more information.