Several genetic blood diseases can prevent the body from producing a healthy immune system. Patients with severe combined immunodeficiency (SCID) can die from infections that healthy children easily fight off. The best treatment for these diseases is a bone marrow transplant.
At Boston Children’s Hospital, stem cell scientist George Q. Daley, MD, PhD, led his team in creating dozens of lines of induced pluripotent cells (iPS), including lines derived from patients with SCID. Studying these iPS cells in the lab will give scientists a chance to see how these patients’ respective diseases develop, and how the diseases can be treated. Currently, Daley and Luigi Notarangelo, MD, are collaborating to create additional iPS lines representing eight of the 14 forms of SCID.
Daley has already successfully combined gene and cell therapy to correct SCID in mice. In this instance, he used somatic cell nuclear transfer (in which the nucleus of an egg cell is replaced with the nucleus of an adult cell) of immunodeficient mice, followed by gene therapy to correct the disease mutation, to create healthy blood stem cells.