Photo of Elizabeth F. Neufeld

Elizabeth F. Neufeld

  • National Medal of Science
  • Biological Sciences

For her contributions to the understanding of the lysosomal storage diseases, demonstrating the strong linkage between basic and applied scientific investigation.

Elizabeth F. Neufeld first became interested in science while a high school student, her interest sparked by her biology teacher. She went on to receive a Ph.D. in biochemistry in 1956, a time where women mostly did not choose careers in scientific research. “Some people looked at women who wanted a career in science as a little eccentric,” Neufeld was quoted in an interview, “but I enjoyed what I was doing and I decided I would persevere.”

Neufeld took a position with the National Institutes of Health, and it’s there she made a groundbreaking discovery researching mucopolysaccharidoses (MPS), disorders, such as Hurler syndrome, in which MPS (a complex series of sugars) cannot be stored or metabolized properly. The disorders can cause stunted physical and mental growth, vision and hearing problems, and a short life span.

Her research showed that the defects in Hurler syndrome was due to decreased degradation of MPS and their resulting accumulation in lysosomes rather than an overproduction of the sugars. Her research opened the door for prenatal diagnosis of MPS disorders.

By Jen Santisi