Elizabeth Fondal Neufeld was born in Paris, France. She attended Queens College in New York, receiving her B.S. in 1948. Studying with William Zev Hassid at the University of California, Berkeley, she received her Ph.D. in comparative biochemistry in 1956. After doing several years of postdoctoral research at Berkeley, Neufeld moved to the NIH in 1963, where she began as research biochemist at the National Institute of Arthritis Metabolism and Digestive Diseases. In 1973, Neufeld was named chief of the National Institutes of Health 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 of NIADDK's Division of Intramural Research from 1981 to 1983. In 1984, Neufeld returned to the University of California, this time the Los Angeles campus, as chair of the Biological Chemistry Department. She continues to do research at UCLA today.
Neufeld is best known as an authority on hereditary lysosomal storage disorders. It was during her time at NIH that Neufeld began her research on mucopolysaccharidoses (MPS) disorders, such as Hurler syndrome, in which mucopolysaccharides cannot be stored or metabolized properly. Her work showed that these disorders stem from an abnormally slow rate of sugar breakdown due to lysosomal enzyme deficiency. This research paved the way for successful prenatal diagnosis of MPS and related disorders, as well as genetic counseling. In addition to MPS, Neufeld has done research on similar disorders such as Tay-Sachs disease. Neufeld's work on lysosomal storage disease factors was featured as a Journal of Biological Chemistry Classic (1).
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 in 1992. She was elected to both the National Academy of Sciences 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 recognition of her scientific achievements she was awarded the Gaidner Foundation Institute Award in 1981, the Lasker Award in 1982, the Wolf Prize in Medicine in 1988, the National Medal of Science in 1994, and was named California Scientist of the Year in 1990.
1. Kresge, N., Simoni, R. D., and Hill, R. L. (2007) Lysosomal storage disease factors: The work of Elizabeth F. Neufeld. J. Biol. Chem. 282 (20)