Elizabeth F. Neufeld

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Elizabeth F. Neufeld

Elizabeth F. Neufeld (born 1928) is best known as an authority on human genetic diseases . Her research at the National Institutes of Health (NIH) and at University of California, Los Angeles (UCLA), provided new insights into mucopolysaccharide storage disorders (the absence of certain enzymes preventing the body from properly storing certain substances).

Neufeld's research opened the way for prenatal diagnosis of such life-threatening fetal disorders as Hurler syndrome. Because of this research, she was awarded the Lasker Award in 1982 and the Wolf Prize in Medicine in 1988.

She was born Elizabeth Fondal in Paris, on September 27, 1928. Her parents, Jacques and Elvire Fondal, were Russian refugees who had settled in France after the Russian revolution. The impending occupation of France by the Germans brought the Fondal family to New York in June 1940. Her parents' experience led them to instill in Neufeld a strong commitment to the importance of education "They believed that education was the one thing no one could take from you," she told George Milite in a 1993 interview.

Neufeld first became interested in science while a high school student, her interest sparked by her biology teacher. She attended Queens College in New York, receiving her bachelor of science degree in 1948. She worked briefly as a research assistant to Elizabeth Russell at the Jackson Memorial Laboratory in Bar Harbor, Maine. From 1949 to 1950 she studied at the University of Rochester's department of physiology. In 1951 she moved to Maryland, where she served as a research assistant to Nathan Kaplan and Sidney Colowick at the McCollum-Pratt Institute at Johns HopkinsUniversity. In 1952 Neufeld moved again, this time to the West Coast. From 1952 to 1956 she studied under W. Z. Hassid at the University of California, Berkeley. She received her Ph.D. in comparative biochemistry from Berkeley in 1956 and remained there for her postdoctoral training. She first studied cell division in sea urchins. Later, as a junior research biochemist (working again with Hassid) she studied the biosynthesis of plant cell wall polymers— which would prove significant when she began studying Hurler syndrome and related diseases.

Neufeld began her scientific studies at a time when few women chose science as a career. The historical bias against women in science, compounded with an influx of men coming back from the Second World War and going to college, made positions for women rare; few women could be found in the science faculties of colleges and universities. Despite the "overt discrimination" Neufeld often witnessed, she decided nonetheless to pursue her interests. "Some people looked at women who wanted a career in science as a little eccentric," she told Milite, "but I enjoyed what I was doing and I decided I would persevere."

After spending several years at Berkeley, Neufeld moved on to NIH in 1963, where she began as research biochemist at the National Institute of Arthritis Metabolism and Digestive Diseases. It was during her time at NIH that Neufeld began her research on mucopolysaccharidoses (MPS), disorders in which a complex series of sugars known as mucopolysaccharides cannot be stored or metabolized properly. Hurler syndrome is a form of MPS. Other forms of MPS include Hunter's Syndrome, Scheie Syndrome, Sanfillipo, and Morquio. These are all inherited disorders. Defectively metabolized sugars accumulate in fetal cells of victims. The disorders can cause stunted physical and mental growth, vision and hearing problems, and a short life span.

Because some plant cell wall polymers contain uronic acids (a component of mucopolysaccharides), Neufeld, from her work with plants, could surmise how the complex sugars worked in humans. When she first began working on Hurler syndrome in 1967, she initially thought the problem might stem from faulty regulation of the sugars, but experiments showed the problem was in fact the abnormally slow rate at which the sugars were broken down.

Working with fellow scientist Joseph Fratantoni, Neufeld attempted to isolate the problem by tagging mucopolysaccharides with radioactive sulfate, as well as mixing normal cells with MPS patient cells. Fratantoni inadvertently mixed cells from a Hurler patient and a Hunter patient—and the result was a nearly normal cell culture. The two cultures had essentially "cured" each other. Additional work showed that the cells could cross-correct by transferring a corrective factor through the culture medium. The goal now was to determine the makeup of the corrective factor or factors.

Through a combination of biological and molecular techniques, Neufeld was able to identify the corrective factors as a series of enzymes. Normally, the enzymes would serve as catalysts for the reactions needed for cells to metabolize the sugars. In Hurler and other MPS patients, enzyme deficiency makes this difficult. A further complication is that often the enzymes that do exist lack the proper chemical markers needed to enter cells and do their work. Neufeld's subsequent research with diseases similar to MPS, including I-Cell disease, showed how enzymes needed markers to match with cell receptors to team with the right cells.

This research paved the way for successful prenatal diagnosis of the MPS and related disorders, as well as genetic counseling. Although no cure has been found, researchers are experimenting with such techniques as gene replacement therapy and bone marrow transplants.

In 1973 Neufeld was named chief of NIH's Section of Human Biochemical Genetics, and in 1979 she was named chief of the Genetics and Biochemistry Branch of the National Institute of Arthritis, Diabetes, and Digestive and Kidney Diseases (NIADDK). She served as deputy director in NIADDK's Division of Intramural Research from 1981 to 1983.

In 1984 Neufeld went back to the University of California, this time the Los Angeles campus, as chair of the biological chemistry department, where she continues her research. In addition to MPS, she has done research on similar disorders such as Tay-Sachs disease. But her concerns go beyond research. She strongly believes that young scientists just starting out need support and encouragement from the scientific community, because these scientists can bring new and innovative perspectives to difficult questions and issues. At the same time, young scientists can learn much from the experience of established scientists. In her capacity as department chair, Neufeld encourages interaction among established scientists, young scientists, and students.

Neufeld has chaired the Scientific Advisory Board of the National MPS Society since 1988 and was president of the American Society for Biochemistry and Molecular Biology from 1992 to 1993. She was elected to both the National Academy of Sciences (USA) and the American Academy of Arts and Sciences in 1977 and named a fellow of the American Association for Advancement in Science in 1988. In 1990 she was named California Scientist of the Year.

Married to Benjamin Neufeld (a former official with the U.S. Public Health Service) since 1951, she is the mother of two children. Although her work takes up a great deal of her time, she enjoys hiking when she gets the chance, and travel "when it's for pleasure and not business."