Two pediatricians whose research led to the need for early identification of and treatment of severe combined immunodeficiency (SCID) and its inclusion in newborn screening have received the March of Dimes/Col. Harland D. Sanders Lifetime Achievement Award in Genetics.
Children affected with SCID are at risk of developing life-threatening infections because they lack a normal immune system. The disorder became familiar to the public as "bubble boy disease" because an affected child, David, who was born before the wide availability of bone marrow transplantation treatment, had to live in a germ-protected environment.
Edward R.B. McCabe, MD, March of Dimes chief medical officer, presented the award to Rebecca H. Buckley, MD, professor of immunology and the J. Buren Sidbury Professor of Pediatrics at Duke University Medical Center and Jennifer M. Puck, MD, professor of pediatrics at the University of California San Francisco School of Medicine during the annual meeting of the American College of Medical Genetics today.
"Dr. Buckley and Dr. Puck together laid the groundwork for early detection of SCID. They made it possible to treat the disorder soon after birth, rather than waiting for babies with the condition to suffer from diarrhea, failure to thrive and increasingly severe bacterial, fungal and viral infections. They've given many babies a better chance for a healthy life," said Dr. McCabe.
Dr. Puck's research group was one of two teams that identified the rare X-linked recessive gene responsible for SCID-X1, and developed the newborn screening test for it. The gene Dr. Puck identified is the most common cause of SCID.
Dr. Buckley's colleagues identified other genetic causes of SCID and also showed that SCID can be effectively treated by bone marrow transplantation regardless of the molecular type. She observed a 92 percent long-term survival rate if the transplant is done in the first three and half months of life. She successfully advocated to have SCID included on the U.S. Secretary of Health & Human Services recommended uniform panel of newborn screening tests.
Dr. Puck earned her medical degree from Harvard Medical School. From 1993 to 2006, she was an investigator in the National Human Genome Research Institute before joining the faculty of the University of California, San Francisco School of Medicine.
Dr. Buckley earned her bachelor's degree at Duke University and her medical degree at the University of North Carolina, School of Medicine before joining the faculty of the Duke University Medical Center.
Established in 1986, the March of Dimes/Colonel Harland Sanders Award is given annually to individuals whose lifetime body of research and education has made significant contributions to the genetic sciences.