Research on Diseases

Blood Disorders and Stem CellsThis image shows several colonies of human red and while blood cells, grown in the lab from single blood progenitor cells from umbilical cord blood. Image courtesy of Matthew W. Lensch, PhD, Children's Hospital Boston.

Our bone marrow has the job of creating all of our blood cells: red blood cells to carry food and oxygen around the body, white blood cells to fight disease, and platelets to stop bleeding. Malfunctioning bone marrow, which can produce too few or too many cells, is the cause of many serious diseases of the blood.

While stem cells are currently used to treat a variety of blood disorders, researchers at Boston Children’s Hospital are committed to exploring their potential for development of new treatments. Stem Cell Program Director Leonard Zon, MD, has discovered a promising and previously unrecognized way to use the drug PGE2 to boost blood stem cell production in patients undergoing treatment for leukemia or lymphoma. The work started with studies in zebrafish and extended to mouse marrow transplants. In a Phase I clinical trial for leukemia, there were 12 patients treated, and each received two cord blood units. One of the cord blood units was treated with PGE2. The treated cord blood units preferentially engrafted in 10 of 12 patients. A phase II clinical trial has treated 48 patients.

Explore the world of zebrafish research by touring the Zon Lab in the following video:

Other significant blood disease research underway at Children’s:

Scott Armstrong, MD, PhD, an affiliate member of the Stem Cell Program at Boston Children’s Hospital, works with leukemia stem cells, which are the subset of cells in leukemia that are responsible for the development and continued growth of the disease. Leukemia stem cells are the critical cells that must be eradicated in order to cure leukemia. READ MORE.

George Q. Daley, MD, PhD, and other researchers at Children’s are dedicated to turning embryonic stem cells from mice into blood stem cells that could correct a blood disorder. Recently Dr. Daley has developed a protocol to treat iPSC cells with 5 genes that can drive HSC development. This exciting discovery has paved the way for clinical developed of blood stem cells from iPSC.

Children’s is already a leader in the area of bone marrow transplant, the first example of stem-cell-based therapy in which hematopoietic (blood-forming) stem cells from a donor are used to replace a patient’s diseased marrow. At Children’s, we currently use hematopoietic stem cell transplant to treat the following blood disorders, in close collaboration with the Dana Farber Cancer Institute:

  • Leukemia
  • amegakaryocytic thrombocytopenia
  • cyclic neutropenia
  • dyskeratosis congenital
  • Shwachman-Bodian-Diamond syndrome
  • Pearson syndrome
  • severe congenital neutropenia
  • thrombocytopenia absent radii
  • aplastic anemia
  • Diamond-Blackfan anemia
  • Fanconi anemia
  • sickle cell disease



  • Learn more about bone marrow stem cell transplants

    To learn about bone marrow stem cell transplantation at Children’s Hospital Boston, please visit our Stem Cell Transplantation Program.

  • A new use for the drug PGE2

    PGE2, a drug currently in Phase I clinical trials to treat leukemia and lymphoma, first showed promise in experiments using zebrafish. Click here to read about how Leonard Zon made this discovery about the use of the drug.

  • Cancer stem cells

    Cancer stem cells are stem cells gone off course, allowing cancer to grow and perpetuate itself, often in spite of treatment. To read about cancer stem cells, check out this feature article.

  • A Massachusetts couple adopts

    A Massachusetts couple adopts two brothers from Haiti and learns one of them has sickle cell disease. After seeking out Children’s Hospital Boston’s Stem Cell Transplantation Program, they discover how one brother can help the other fight the disease. Click here to read their story.

  • In 2005, Children’s Stem

    In 2005, Children’s Hospital Boston stem cell researchers spoke with the Boston Globe about using somatic cell nuclear transfer to clone patient-specific cells into blood cells for transplantation. Click here to read about the ethics and potential benefits of this approach.