Research on Diseases

Congenital and Genetic DisordersImage of an in situ of chromosomes to compare normal and trisomy 21 (Down syndrome) cells. Image courtesy of Stuart Orkin, MD, Children's Hospital Boston/Dana-Farber Cancer Institute.

We understand how difficult it must be for any parents to discover their newborn is sick with a congenital or genetic disorder, whether it's a heart defect or sickle cell disease.

At Children’s, our researchers are committed to learning all we can about these diseases in order to make sure these children have the best shot at living as normal a life as possible – and stem cells may be the key.

Our work with stem cells includes:

  • Using iPS cells to model how children with Down syndrome can develop leukemia but still be resistant to other types of cancer
  • Studying the defective stem cells in children that cause deforming hemangiomas to grow
  • Treating children who have sickle cell disease with bone marrow transplants
  • Using iPS cells to model the development of congenital heart defects, and studying the heart’s own cardiac stem cells