This laboratory is interested in the biochemical
and genetic basis for the combined immunodeficiency
diseases caused by inherited deficiencies of adenosine
deaminase (ADA) and purine nucleoside phosphorylase
(PNP). We have investigated the metabolism, biochemical,
and cell biological effects of purine nucleosides
in enzyme deficient patients, cultured cell lines,
and murine models. We are investigating the relationship
of genotype to phenotype. We are also developing chemically
and genetically modified enzymes as replacement therapy
for ADA, PNP, and other inherited metabolic diseases.
Trainees would participate in several aspects of the
research involving various biochemical, genetic, and
cell biological methods.
