Born in France, Elizabeth Neufeld immigrated to the United States in 1940. She obtained a BS from Queens College, New York and a Ph.D. from the University of California Berkeley. After postdoctoral training in, she moved to the NIH in Bethesda, MD, where she began her studies of a rare group of genetic diseases. She moved back to California in 1984 as Chair of the Department of Biological Chemistry – a position that she occupied till 2004.
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.
Dr. Elizabeth Neufeld’s 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.
Representative Publications:
Sanfilippo Syndrome Type B, a Lysosomal Storage Disease, Is Also a Tauopathy
Short-Term Enzyme Replacement in the Murine Model of Sanfilippo Syndrome Type B
Enzyme-Replacement Therapy in Mucopolysaccharidosis I
Molecular Order in Mucolipidosis II and III Nomenclature
