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Jarvis "Jay" Edwin Seegmiller
American physician, born 1920, St. George, Utah.
Associated eponyms:
Kelley-Seegmiller syndrome
Partial hypoxanthine guanine phosphoribosyltransferase 1 deficiency (partial HGPRT deficiency) leading to hyperuricaemia, without CNS effects such as those seen in Lesch-Nyhan syndrome.
Biography:
Jarvis Edwin Seegmiller grew up in St. George, Utah. He graduated in chemistry from the University of Utah in 1942. After discharge from the army, he studied medicine and graduated from the University of Chicago. Following internship at Johns Hopkins he came to the National Institutes of Health and became Chief of Human Biochemical Genetics. Like many other leading scientists at NIH, he enjoyed extraordinary freedom to choose research projects and to get the funding and the staff to do the needed work.
In 1969, Seegmiller became professor at the newly formed Medical School of the University of California, San Diego, and in 1983 he was appointed Founding Director of the Stein Institute for Research on Aging.
Jarvis "Jay" Edwin Seegmiller has recieved many prizes and awards. He was elected to the National Academy of Sciences in 1972 and the National Academy of Arts and Sciences in 1982.
Bibliography:
- Wilfred Y. Fujimoto and J. Edwin Seegmiller:
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Activity in Normal, Mutant, and Heterozygote-Cultured Human Skin Fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America, March 15, 1970, 65 (3).577-584.
- J. Edwin Seegmiller:
Genetic and Molecular Basis of Human Hereditary Diseases.
Clinical Chemistry, 1967, 13: 554-564.
- James R. Klinenberg, Stephen Goldfinger, Kathryn H. Bradley, and J. Edwin Seegmiller:
An Enzymatic Spectrophotometric Method for the Determination of Xanthine and Hypoxanthine. Clinical Chemistry, 1967 13: 834-846.
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