Speaker Profile

Developed newborn screening test for severe combined immunodeficiency

M.D., Professor of Pediatrics, UCSF

Jennifer Puck earned her undergraduate and medical degrees at Harvard University and Harvard Medical School, after which she completed training in pediatrics, infectious diseases and immunology at Washington University in St. Louis and Baylor College of Medicine. After serving on the faculties of the University of Pennsylvania and the National Human Genome Research Institute of the National Institutes of Health, she joined UC San Francisco in 2006 as professor of pediatrics. In addition to caring for patients with immune disorders, Puck has a research program focused on finding underlying genes for rare human immune deficiencies and improving their treatments and outcomes. She conceived and developed the newborn screening test for severe combined immunodeficiency (SCID, or Bubble Boy disease), now adopted in all 50 states and a growing number of countries. With this test infants with SCID are be diagnosed and treated early, avoiding infectious complications. In a landmark gene therapy clinical trial for X chromosome-linked SCID, Puck treated four of the eight SCID infants with successful results, and she also is conducting a clinical trial at UCSF of gene therapy for a different SCID gene, Artemis. While these advanced clinical studies pave the road for curing future kids with rare diseases, they also shine a light on important basic immune pathways that were previously unknown.

New Dx and Tx for Severe Combined Immunodeficiency (SCID)


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