Roscoe Owen Brady (October 11, 1923 – 13 June 2016) was an American biochemist. He attended the

Pennsylvania State University The Pennsylvania State University (Penn State or PSU) is a Public university, public Commonwealth System of Higher Education, state-related Land-grant university, land-grant research university with campuses and facilities throughout Pennsylvan ...

and obtained his M.D. degree from

Harvard Medical School Harvard Medical School (HMS) is the graduate medical school of Harvard University and is located in the Longwood Medical Area of Boston, Massachusetts. Founded in 1782, HMS is one of the oldest medical schools in the United States and is consi ...

in 1947. He interned at the Hospital of the

University of Pennsylvania The University of Pennsylvania (also known as Penn or UPenn) is a private research university in Philadelphia. It is the fourth-oldest institution of higher education in the United States and is ranked among the highest-regarded universitie ...

. From 1948 to 1952 he was a post-doctoral fellow in the Department of Physiological Chemistry at the

University of Pennsylvania School of Medicine The Perelman School of Medicine, commonly known as Penn Med, is the medical school of the University of Pennsylvania, a private research university in Philadelphia, Pennsylvania. Founded in 1765, the Perelman School of Medicine is the oldest medi ...

and fellow in clinical medicine in the Department of Medicine. In collaboration with Samuel Gurin at the University of Pennsylvania, Brady discovered the enzyme system for the biosynthesis of long chain fatty acids, and later discovered the role of

malonate The conjugate acids are in :Carboxylic acids. {{Commons category, Carboxylate ions, Carboxylate anions Carbon compounds Oxyanions ...

coenzyme A in this process. After two and one-half years on active duty in the U.S. Naval Medical Corps, he joined the

National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

in 1954. He was Chief of the Developmental and Metabolic Neurology Branch in the

National Institute of Neurological Disorders and Stroke The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The ...

from 1972 to 2006. Dr. Brady and his colleagues identified the enzymatic defects in

Gaucher's disease Gaucher's disease or Gaucher disease () (GD) is a genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polyg ...

Niemann–Pick disease Niemann–Pick disease is a group of severe inherited metabolic disorders, in which sphingomyelin accumulates in lysosomes in cells (the lysosomes normally degrade material that comes from out of cells). These disorders involve the dysfunctional ...

, Fabry disease and the specific metabolic abnormality in Tay–Sachs disease. He and his associates developed diagnostic, carrier detection, prenatal tests for these conditions, and effective enzyme replacement therapy for patients with

Gaucher disease Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low ...

and

Fabry disease Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. T ...

.Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, Balow E, Brady RO. Enzyme replacement therapy in Fabry disease. A randomized controlled trial. JAMA 2001; 285: 2743–2749 These were the first-ever

enzyme replacement therapy Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme. ERT is availa ...

(ERT) treatments for lysosomal diseases, and directly led to great advances in the development of enzyme replacement therapies for some of the other lysosomal diseases, by many different researchers who were inspired by Dr. Brady. (An international research and development effort for new ERT for several devastating lysosomal diseases continues today at an intense pace, and numerous ERT clinical trials are underway.) Late in his life, Dr. Brady was investigating substrate depletion, molecular chaperone therapy, and gene therapy for patients with metabolic storage disorders. Among his numerous awards, Dr. Brady received the Borden Undergraduate Award from

in 1947; the

Gairdner Foundation International Award The Canada Gairdner International Award is given annually by the Gairdner Foundation at a special dinner to five individuals for outstanding discoveries or contributions to medical science. Receipt of the Gairdner is traditionally considered a ...

in 1973; the Cotzias Award from the

American Academy of Neurology The American Academy of Neurology (AAN) is a professional society representing over 38,000 neurologists and neuroscientists. As a medical specialty society it was established in 1948 by A.B. Baker of the University of Minnesota to advance the ar ...

in 1980; the

Passano Foundation The Passano Foundation, established in 1945, provides an annual award to a research scientist whose work – done in the United States – is thought to have immediate practical benefits. Many Passano laureates have subsequently won the Nobel Priz ...

Award and the

Lasker Foundation The Lasker Awards have been awarded annually since 1945 to living persons who have made major contributions to medical science or who have performed public service on behalf of medicine. They are administered by the Lasker Foundation, which was f ...

Award in 1982; the Sachs Award from the Child Neurology Society in 1990; the Kovalenko Medal from the

National Academy of Sciences The National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the Nati ...

USA in 1991; and the Alpert Foundation Prize from Harvard Medical School in 1992. He received an honorary PhD degree from the University of Uppsala in 2005. Dr. Brady was awarded the

National Medal of Technology and Innovation The National Medal of Technology and Innovation (formerly the National Medal of Technology) is an honor granted by the President of the United States to American inventors and innovators who have made significant contributions to the development ...

in 2008 by President George W. Bush. He was a member of the

and the Institute of Medicine of the National Academy of Sciences.

Dr. Brady died on June 13, 2016, at his home in Rockville, MD, with his wife and sons at his side after a long battle with cancer.

References

External links

National Institute of Neurological Disorders and Stroke (NINDS) profile
{{DEFAULTSORT:Brady, Roscoe 1923 births 2016 deaths Scientists from Philadelphia American biochemists American medical academics Members of the United States National Academy of Sciences Pennsylvania State University alumni Harvard Medical School alumni National Medal of Technology recipients Recipients of the Lasker-DeBakey Clinical Medical Research Award Members of the National Academy of Medicine