Congenital & Genetic Disorders

Down Syndrome

Stem cells are helping doctors at Children's Hospital Boston and elsewhere understand different facets of Down syndrome, including leukemia, cancer and disease progression.

At Children’s, stem cell scientist George Q. Daley, MD, PhD, led his team in creating a line of induced pluripotent cell (iPS cells) from mature body cells from patients with Down syndrome. Studying these iPS cells in the lab will give scientists a chance to answer some questions about Down syndrome.

For example, Children’s researcher Stuart Orkin, MD, is using iPS cells to explore how an extra copy of Chromosome 21 can lead to a specific form of leukemia common in children with Down syndrome, a study that may also help scientists understand and treat other kinds of leukemia.

In Children’s Vascular Biology Program, former CHB researcher Sandra Ryeom, PhD, used Daley’s iPS line to explore  why people with Down syndrome are less prone to most other types of cancer. Her research showed that an extra copy of Chromosome 21 may suppress angiogenesis, the development of blood vessels essential for cancer’s growth. READ MORE.



  • Down syndrome at Children’s

    To learn about how Children’s Hospital Boston can help your child with Down syndrome, please visit our Down Syndrome Program.

  • Snapshot of Stuart Orkin’s work

    Click here for a Snapshot of Stuart Orkin’s work with leukemia in infants with Down syndrome.

  • Cellular reprogramming to create iPS

    Cellular reprogramming to create iPS cells was named Breakthrough of the Year for 2008 by Science magazine. For more information on Children’s Hospital Boston disease-specific lines of iPS cells, check out this news release and feature story.