PROF JENNIFER PUCK

Professor of Paediatrics, University of California, San Francisco

Having been Chief of the Genetics and Molecular Biology Branch in the Genome Institute at NIH, Bethesda, MD for several years, Dr Puck has recently become Professor of Immunology and Rheumatology in Paediatrics and a member of the Institute for Human Genetics at the University of California, San Francisco.
Jennifer studies PIDs, in particular severe combined immunodeficiency (SCID), autoimmune lymphoproliferative syndrome, and hyper-IgE syndrome. She combines a genetic approach with tools of molecular biology and cellular immunology to discover the molecular basis for human immunodeficiencies. By delineating patient mutations she is able to learn how genotypes and phenotypes are related. Having enrolled several hundred families in her studies of SCID and learned of their difficulties in getting timely diagnosis and treatment for affected infants, she has become interested in population-based newborn screening. She has invented a newborn screening test based on enumerating T cell receptor excision circles in the dried blood spot filter cards currently collected from all infants for metabolic screening.

Presentation: Uses of Genetic Testing for PIDs

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