Dr. Roscoe Owen Brady, a long honored pioneer for enzyme therapeutic approaches in treating metabolic disorders including Gaucher disease, has died.
Brady, bolstered by his own unlimited devotion and persistance and credited by others for research that now allows patients with Gaucher disease to live longer lives, passed away on June 13 , according to a press release from the National Gaucher Foundation.
Brady and his coworkers improved Gaucher and related diseases through the development of diagnostic, prenatal tests, carrier detection, and the first ever existent enzyme replacement therapies. During the last years of his life, Brady concentrated on substrate depletion and gene therapy on patients with lysosomal disorders.
While working at with a team at the National Institute of Neurological Disorders and Stroke (NINDS), at the National Institutes of Health (NIH), Brady and colleagues succeeded in developing a treatment for Gaucher disease, which was later approved By the FDA in 1991, and is still in use today.
“When I was a young child, Dr. Brady’s treatment truly gave me back the ability to enjoy life,” said National Gaucher Foundation President Brian Berman, in the press release. “He was an incredibly dedicated and intelligent man, and the world has lost a scientific and medical legend. I owe my life in part to Dr. Brady. This is a great loss for our community and a deeply personal loss for me.”
Gaucher disease is a genetic condition characterized by the abnormal accumulation of a lipid called glucocerebroside in several organs and body areas, including the liver, spleen, kidneys, lungs, bone marrow, and brain. The condition yields a number of health issues, such as fatigue, anemia, bruising, enlarged liver and spleen, decreased numbers of blood cells, and bone complications.
The National Gaucher Foundation estimated the prevalence of Gaucher disease to approximately one in 20,000 live births. The disease is caused by a mutant glucocerebrosidase gene, which induces deficient glucocerebrosidase enzyme responsible for the hydrolysis of glucocerebroside into smaller components.
Today, many therapeutic approaches are used for the treatment of Gaucher disease. A main therapeutic route is based on enzyme replacement therapy (ERT), aimed to compensate the lack of the enzyme in patients through intravenous infusions containing the deficient enzyme.