Children with severe immune deficiencies cannot pet a cat, play in a sandbox or even hug a parent without risking life-threatening infection.
“Understanding the biology of these diseases is not simple,” says Luigi Notarangelo, MD, director of Children’s Research and Molecular Diagnosis Program in Primary Immunodeficiencies. “First of all, they are extremely rare. In addition, they are genetically heterogeneous. Each patient may have his or her own mutation even in the same gene.”
With iPS cells, Notarangelo can precisely model each patient’s genetic defect, and recapture the disease at its earliest beginnings. He is now collaborating with the Stem Cell Program to create iPS cells representing eight of the 14 variations of SCID, the most severe immune deficiency. Notarangelo will map the differing ways these variants hobble immune response and ultimately use the iPS cells to investigate drugs and other interventions that may reverse disease.