Thanks to nearly 30 years of research and effort, another groundbreaking discovery has improved treatment for one of the most devastating genetic disorders affecting young children today.
Two renowned UCSF Department of Pediatrics researchers in the Division of Allergy, Immunology and Bone Marrow Transplantation, Jennifer Puck, MD, and Mort Cowan, MD, have been pioneering research to help children born without functioning immune systems. Severe combined immunodeficiency (SCID) is known most widely by its nickname, the ‘bubble baby’ disease. Children born with SCID lack the ability to fight infections and most die before age 1 unless their immunity can be restored, usually by a bone marrow transplant from a healthy donor, ideally a matched sibling.
This treatment, however, has not worked well for one genetic form of SCID, the form caused by defects in the Artemis gene. The breakthrough involves a new gene therapy treatment for Artemis-SCID that allows researchers to add back a correct copy of the gene to the patient’s own harvested blood-forming stem cells.
“Artemis-SCID is the most difficult form of SCID to treat with bone marrow transplants,” says Cowan. “Compared to other SCID genotypes, patients have more rejection, poorer immune reconstitution and increased rates of graft-versus-host disease. Gene therapy seemed like it could overcome these issues.”
While fewer than five children are diagnosed with the disease each year in the United States, one out of 2,000 Navajo births are affected. Puck spent two summers in medical school on the Navajo reservation, and Cowan has treated many Native Americans with SCID using standard bone marrow transplants. Over the past 30 years, they’ve dedicated themselves to improving lives affected by the disease.