Roscoe Brady

National Medal of Technology and Innovation

Medicine

For the discovery of the enzymatic defects in hereditary metabolic disorders such as Gaucher disease, Niemann-Pick disease, Fabry disease and Tay-Sachs disease, devising widely used genetic counseling procedures and development of highly effective enzyme replacement therapy that provided the foundation for patient treatment; and for stimulating the creation of and fostering the success of many biotechnology companies that now produce the therapeutics for the treatment of these diseases.

For the discovery of the enzymatic defects in hereditary metabolic disorders such as Gaucher disease, Niemann-Pick disease, Fabry disease and Tay-Sachs disease, devising widely used genetic counseling procedures and development of highly effective enzyme replacement therapy that provided the foundation for patient treatment; and for stimulating the creation of and fostering the success of many biotechnology companies that now produce the therapeutics for the treatment of these diseases.

Loading...

VIEW STATISTICS +

Birth
October 11, 1923
Age Awarded
84
Country of Birth
USA
Key Contributions
Hereditary Disease Research
Awarded by
George W. Bush
Education
Pennsylvania State University
Harvard University
Areas of Impact
Health & Medicine
Affiliations
National Institutes of Health
G

Gaucher’s disease is a serious diagnosis. It is a congenital enzyme deficiency that can lead to skeletal deficiency, dangerous enlargement of vital organs, central nervous system difficulties, and neurologic complications. But it took a graduate from Harvard Medical School to discover this deficiency as the common cause in patients and subsequently come up with an effective treatment for them.

During his more than sixty years at the National Institute of Health, Dr. Roscoe Brady and his colleagues set out to find the cause of Gaucher’s disease and they did. By locating the missing enzyme as the cause of the many symptoms, Dr. Brady was able to accurately diagnose the presence of the disease and create the first enzyme replacement therapies ever used to treat lysosomal diseases. They passed clinical testing in 1991 and remain in use to this day.

Dr. Brady passed away in 2016 but his legacy of work has changed the way lysosomal diseases are diagnosed and treated throughout the world. He has been called “an outstanding model of the physician-investigator.” Because of his dedication to treating Gaucher’s and several other hereditary diseases, he has changed the quality of life and outcomes for thousands of patients and their families.

By Casey Samulski

...