Dr. Roscoe Brady Receives Presidential Honor for Scientific Achievement

For release: Monday, October 06, 2008

NINDS Scientist Emeritus Dr. Roscoe O. Brady has been selected to receive 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, Dr. 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, and he has inspired colleagues throughout the world to define the causes of many other related disorders and to pursue further investigations in this field.

"The cause of hereditary human metabolic storage disorders such as Gaucher disease was unknown when Roscoe Brady began his investigations more than 50 years ago," said NIH Director Elias A. Zerhouni, M.D. "His innovative research into disease mechanisms and the development of an effective treatment has significantly improved the lives of thousands of patients and has given hope to families affected by these disorders."

Dr. Brady was born in Philadelphia, Pa. in 1923. He attended Pennsylvania State University, earned his medical degree from Harvard Medical School in 1947, and interned at the Hospital of the University of Pennsylvania.

After the internship, Dr. Brady was a national research council fellow and, later, a U.S. Public Health Service special fellow in the Department of Biochemistry at the University of Pennsylvania School of Medicine. He worked with Dr. Samuel Gurin, a biochemist, on research using radioactive isotopes to study the biosynthesis of testosterone, fatty acids, and cholesterol. This early work not only developed Dr. Brady's desire to do research, but would eventually lead to his interest in lipid storage diseases.

Dr. Brady was called to active duty in 1952 and for two years served in the U.S. Naval Medical Corps at the National Naval Medical School in Bethesda, Md., as officer-in-charge of the Department of Chemistry.

In 1954 he was recruited by Dr. Seymour Kety to join the NINDB (now NINDS) as chief of the section on lipid chemistry in the Laboratory of Neurochemistry. Dr. Kety wanted to establish a research program focused on myelin-the lipid covering of nerve-and he knew of Dr. Brady's research at the University of Pennsylvania. Dr. Brady would remain with NINDS for his entire career, later becoming chief of the Developmental and Metabolic Neurology Branch.

While there is a great deal of research on the LSDs today, there was virtually none before Dr. Brady's investigations at NIH. He and his research team identified the enzymatic bases of Gaucher disease, Niemann-Pick disease, Fabry disease and Tay-Sachs disease, 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 Dr. 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."

Dr. 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 Dr. 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 countless patients."

By taking their discoveries from bench to bedside, Dr. 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.

Dr. Brady officially retired in 2006. He is now scientist emeritus at NINDS. His work continues and is focused on exploring other ways to treat LSDs. "We are looking at molecular chaperone therapy-that provides a template to guide and stabilize the abnormal enzymes, and, of course, gene therapy because we want to cure these patients permanently," he said.

Throughout his career Dr. Brady has received numerous accolades and honors including many awards for his research and service. His work is also featured in an exhibit on the NIH Office of History website at http://www.history.nih.gov/exhibits/gaucher/index.html.

Dr. Brady received the National Medal of Technology and Innovation at a special ceremony held in the East Room of the White House on September 29, 2008.

-By Shannon E. Garnett

Date Last Modified: Tuesday, October 28, 2008

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