Obituary: Scientist who advanced research into genetic disorders dies

From The Washington Post:

Dr. Seymour Kaufman (pictured), 85, a retired research scientist at the National Institute of Mental Health whose work helped lay the groundwork for understanding genetic disorders such as phenylketonuria, died of a heart attack June 23 at Suburban Hospital. He was a longtime Bethesda resident.

In 1954, when Dr. Kaufman accepted a position at the institute's newly created Laboratory of Cellular Pharmacology, he arrived in Bethesda to discover that the laboratory existed only on paper and that it would be some months before it was completed. According to the Web site of the Journal of Biological Chemistry, that hiatus gave the young researcher time to consider what his first research project would be. He wanted a basic problem that, if solved, would represent a clinical advance.

He settled on research into the enzyme responsible for the conversion of phenylalanine to tyrosine. It already had been established that an inherited inability to convert phenylalanine to tyrosine resulted in the disease phenylketonuria, or PKU. If left untreated, PKU leads to irreversible brain damage and mental retardation in early childhood. Dr. Kaufman well knew that discovering the enzyme involved in the reaction would contribute to the discovery of appropriate therapies.

He eventually showed that the missing component in PKU is phenylalanine hydroxylase. Several years later, he and others described less common forms of the disease and traced them to the lack of other essential components of the hydroxylase system.

In recognition of his contributions to science, Dr. Kaufman received the Department of Health, Education and Welfare's Distinguished Service Award in 1980 and the American Chemical Society's Hillebrand Prize in 1991. He was elected to the National Academy of Sciences in 1986 and the American Academy of Arts and Sciences in 1987.

Dr. Kaufman was born in Brooklyn. Having demonstrated some talent in art as a youngster, he was admitted to the High School of Music and Art in New York, where he took very few science courses. Although he knew little about biology and chemistry when he graduated, he had read during his senior year Paul de Kruif's "Microbe Hunters" (1926) and Sinclair Lewis's novel about a physician drawn to basic research, "Arrowsmith" (1925). Those books helped him realize that he wanted to be involved in biomedical research, in either biochemistry or organic chemistry.

He majored in chemistry at the University of Illinois, where he received his undergraduate degree in 1945 and his master's degree in 1946. He received his doctorate in 1949 from Duke University, where he served as a U.S. Public Health Service fellow. While in graduate school at Illinois, he developed what became a lifelong interest in enzymes.

He joined NIMH as a biochemist in the Laboratory of Cellular Pharmacology and later served as chief of the Section on Cellular Regulatory Mechanisms in the Laboratory of General and Comparative Biochemistry. In 1971, he became chief of the NIMH Laboratory of Neurochemistry, a position he held until his retirement in 2000. He was the author of "Overcoming a Bad Gene" (2004).

A Bethesda resident for 55 years, Dr. Kaufman was an accomplished printmaker, an opera lover, an avid tennis player, a gourmet cook and a world traveler.

Survivors include his wife of 61 years, Elaine Elkins Kaufman of Bethesda; three children, Dr. Allan Kaufman of Lambertville, Mich., Emily Kaufman of Charlottesville and Leslie Barrick of Peekskill, N.Y.; two sisters; and three grandchildren.