|NINDS scientist emeritus Dr. Roscoe O. Brady (l) received the National Medal of Technology and Innovation from President George W. Bush at a ceremony held in the East Room of the White House on Sept. 29.
NINDS scientist emeritus Dr. Roscoe O. Brady recently received the National Medal of Technology
and Innovation—the highest honor
for achievement in science and technology bestowed by the President of the United States.
The medal recognizes individuals, teams or companies
for their outstanding contributions to the nation’s economic, environmental and social well-being through the development and commercialization
of technology products, processes and concepts; technological innovation; and development
of the nation’s technological manpower. The award was established in 1980 and is administered
by the U.S. Department of Commerce.
For more than 50 years, Brady has conducted pioneering research on hereditary metabolic storage diseases, also called lipid or lysosomal storage disorders (LSDs) such as Gaucher disease,
Niemann-Pick disease, Fabry disease and Tay-Sachs disease. His work has defined much of what is known about the biochemistry, enzymatic
bases and metabolic defects of these disorders.
Also, he has inspired colleagues throughout
the world to define the causes of many other related disorders and to pursue further investigations
in this field.
While there is a great deal of research on the LSDs today, there was virtually none before Brady’s investigations at NIH. In addition to identifying the enzymatic bases, he and his research team developed methods to diagnose individuals with these conditions and detect carriers, and methods for the prenatal detection
of these disorders that provided the basis for genetic counseling to at-risk families. In 1991, they established the first effective treatment—
enzyme replacement therapy—for Gaucher disease.
“As soon as we identified the missing enzymes in Gaucher disease and in Niemann-Pick disease, I thought about enzyme replacement therapy,” said Brady. “Although it took many years to bring enzyme therapy to fruition, the ultimate benefit was amazing. It showed the way enzyme replacement
therapy can work for human diseases.”
Brady’s studies on Gaucher disease and success with enzyme replacement therapy led to breakthroughs
in other areas of LSD research, including
a treatment for Fabry disease and the identification
of new types of LSDs.
“This work would have been extremely difficult, if not impossible, to do anywhere other than at NIH,” said Brady. “There were years during which we had no appreciable progress. When we first developed the enzyme replacement therapy,
we couldn’t produce a sufficient amount of the enzyme. Finally we figured out how to make a large quantity of it. Then we didn’t do the first clinical test right. But the NINDS board of scientific counselors said ‘just keep trying.’ I believe this is why NIH was created, to support difficult, high-risk, time-consuming research. People told us enzyme replacement therapy would not and could not work and now it’s helping
Brady and his team brought enormous relief to patients who, without treatment, suffer
from a wide range of symptoms including liver and spleen enlargement, severe anemia, thrombocytopenia (low blood platelet count) and painful skeletal deformities. “People now on enzyme replacement therapy can live a normal
life,” he said.
Brady officially retired in 2006. He is now scientist
emeritus at NINDS. His work continues and is focused on finding other ways to treat LSDs. “We are looking at molecular chaperone therapy, which provides a template to guide and stabilize the abnormal enzyme, and, of course, gene therapy because we want to permanently cure these patients,” he said.
Throughout his career, Brady has received numerous accolades and honors. His work is also featured in an exhibit on the NIH Office of History web site at www.history.nih.gov/exhibits/
Brady received the National Medal of Technology and Innovation at a special ceremony held in the East Room of the White House on Sept. 29.