Jarvis Edwin Seegmiller, MD, 1920–2006
✍ Scribed by Dennis A. Carson; Nathan J. Zvaifler
- Book ID
- 101650720
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 158 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0004-3591
No coin nor oath required. For personal study only.
✦ Synopsis
Dr. Seegmiller was one of the first physician-scientists to focus his research on inborn errors of metabolism. He was convinced that understanding these "experiments of nature" could provide critical insights into the causes and potential treatments of more complex diseases. During his years as a senior investigator in the Arthritis and Rheumatism Branch, Dr. Seegmiller applied the techniques of radioactive labeling and tissue culture to a wide range of inherited disorders causing arthritis, mental retardation, and storage diseases. He pioneered the use of primary skin fibroblasts as in vitro models of metabolic diseases, and was among the first scientists to exploit radioactive precursor-product assays to dissect defects in purine and amino acid metabolism.
Dr. Seegmiller's work helped to create the rationale for the modern targeted treatment of gout and gouty arthritis. His seminal experiments on hypoxanthine guanine phosphoribosyltransferase deficiency showed that both gout and mental retardation could be attributed to a single defect in metabolism. His analyses of cystinosis fibroblasts revealed that the accumulation of amino acids, as well as macromolecules, could cause lysosomal storage diseases. His later work on calcium pyrophosphate deposition disease pointed to a role of pyrophosphatases in crystal formation.
In 1966, Dr. Seegmiller was recruited to join the newly formed Department of Medicine at the University of California, San Diego (UCSD) medical school. Besides establishing a laboratory of human biochemical genetics at UCSD and training students and postdoctoral candidates from many departments, he became fascinated with the aging process. Almost single-handedly, he established an organized research unit, the Stein Institute for Research on Aging, dedicated to bringing the power of genetics and biochemistry to studies of normal and pathologic aging. The Institute went on to enlist