Jennifer Puck, MD

Jennifer Puck, MD is currently a professor in the departments of immunology and pediatrics at the University of California in San Francisco (UCSF). She has been a professor as well as the Director for Pediatrics in the CTSI Clinical Research Center at UCSF since 2006. Dr. Puck’s main research focuses are inherited disorders of the immune system, severe combined immunodeficiency (SCID), lymphocyte development, and whole exome sequencing.

Dr. Puck contributed to the mapping and identification of the genes for X-linked severe combined immunodeficiency (XSCID) and autoimmune lymphoproliferative syndrome (ALPS). In terms of translational research, Dr. Puck has developed a test to screen all newborns for severe lymphocyte disorders based on detecting T cell receptor excision circles (TRECs), by products of normal T lymphocyte receptor arrangement. The TREC test is now part of the newborn screening panel in several states.

Dr. Puck graduated from Harvard University with a bachelor’s degree in Biochemistry. She went on to receive her medical degree from Harvard Medical School. After receiving her medical degree she completed a pediatric residency and an infectious disease fellowship at St. Louis Children’s Hospital at Washington University. She has had multiple appointments since then, serving as a senior staff physician at the W.G. Magnusen Clinical Center at the National Institutes of Health as well as head of the Immunologic Disease Section at the National Human Genome Research Institute (NHGRI). Dr. Puck’s extensive research background includes her contributions to over 208 publications. She has received multiple honors and awards including the Physician Scientist Award from NIH and NHGRI’s Director Award for Scientific Achievement and Outstanding Service.

The NBSTRN is very pleased to honor such a dedicated researcher and we are excited to see the future contributions that Dr. Puck will make to the newborn screening research community!


Researcher Name and Credentials: 
Jennifer Puck, MD