“Roscoe Brady”的意思、由来-开放百科全书

He attended the Pennsylvania State University and obtained his M.D. degree from Harvard Medical School in 1947. He interned at the Hospital of the University of Pennsylvania. From 1948 to 1952 he was a post-doctoral fellow in the Department of Physiological Chemistry at the University of Pennsylvania School of Medicine 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,^[2] and later discovered the role of malonate coenzyme A in this process.^[3] After two and one-half years on active duty in the U.S. Naval Medical Corps, he joined the National Institutes of Health in 1954. He was Chief of the Developmental and Metabolic Neurology Branch in the National Institute of Neurological Disorders and Stroke from 1972 to 2006. Dr. Brady and his colleagues identified the enzymatic defects in Gaucher's disease,^[4]^[5] Niemann–Pick disease,^[6] Fabry disease^[7] and the specific metabolic abnormality in Tay–Sachs disease.^[8]^[9] He and his associates developed diagnostic,^[10]^[11]^[12] carrier detection,^[13] prenatal tests^[14]^[15]^[16] for these conditions, and effective enzyme replacement therapy for patients with Gaucher disease^[17]^[18]^[19]^[20] and Fabry disease.^[21]^[22]^[23] These were the first-ever enzyme replacement therapy (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 Harvard Medical School in 1947; the Gairdner Foundation International Award in 1973; the Cotzias Award from the American Academy of Neurology in 1980; the Passano Foundation Award and the Lasker Foundation Award in 1982; the Sachs Award from the Child Neurology Society in 1990; the Kovalenko Medal from the National Academy of Sciences 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 in 2008 by President George W. Bush. He was a member of the National Academy of Sciences 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.^[1]

References

1. ^¹{{Cite web |url=https://gaucherdiseasenews.com/2016/06/17/dr-roscoe-brady-who-notably-contributed-to-discovering-and-treatment-of-gaucher-disease-sadly-passed-away/ |title=Dr. Roscoe Brady, Pioneer Scientist in Gaucher Disease, Dies at 92 |date=17 June 2016 |website=Gaucher Disease News}}
2. ^Brady RO, Gurin S. The biosynthesis of fatty acids by cell-free or water-soluble enzyme systems. J Biol Chem 1952; 199: 421–431
3. ^Brady RO. Biosynthesis of fatty acids. II. Studies with enzymes from rat brain. J Biol Chem 1960; 235: 3099–3103.
4. ^Brady RO, Kanfer JN, Shapiro, D. Metabolism of glucocerebrosidase. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965; 18: 221–225.
5. ^Brady RO, Kanfer JN, Bradley RM, Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 1966; 45: 1112–1115.
6. ^Brady RO, Kanfer JN, Mock MB, Fredrickson DS. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci USA 1966; 55: 366–369.
7. ^Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276:1163–1167
8. ^Kolodny EH, Brady RO, Volk BW. Demonstration of an alteration of ganglioside metabolism in Tay–Sachs disease. Biochem Biophys Res Commun 1969; 37: 526–531.
9. ^Tallman JF, Johnson WG, Brady RO. The metabolism of Tay–Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay–Sachs brain tissue. J Clin Invest 1972; 51: 2339–2345.
10. ^Kampine JP, Brady RO, Kanfer JN, Feld M, Shapiro D. The diagnosis of Gaucher's disease and Niemann-Pick disease using small samples of venous blood. Science 1967;155: 86–88.
11. ^Percy AK, Brady RO. The diagnosis of metachromatic leukodystrophy with venous blood samples. Science 1968; 161: 594–595.
12. ^Sloan HR, Uhlendorf BW, Kanfer JN, Brady RO, Fredrickson DS. Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem Biophys Res Commun 1969; 34: 582–588
13. ^Brady RO, Johnson WG, Uhlendorf BW. Identification of heterozygous carriers of lipid storage diseases. Am J Med 1971; 51: 423–431.
14. ^Brady RO, Uhlendorf BW, Jacobson CB. Fabry's disease: antenatal detection. Science 1971; 172: 174–175.
15. ^Epstein CJ, Brady RO, Schneider EL, Bradley RM, Shapiro D. In utero diagnosis of Niemann-Pick disease. Am J Hum Genet 1971; 23: 533–535.
16. ^Schneider EL, Ellis WG, Brady RO, McCulloch JR, Epstein CJ. Infantile Type II Gaucher's disease: in utero diagnosis and fetal pathology. J Pediatr 1972; 81: 1134–1139.
17. ^Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS. Replacement therapy for inherited enzyme deficiency: use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med 1974; 291: 989- 993.
18. ^Barton NW, Furbish FS, Murray GJ, Gasrfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990; 87: 1913–1916
19. ^Barton NW, Brady RO, Dambrosia JM, DiBisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu K-T. Replacement therapy for inherited enzyme deficiency – macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991; 324: 1464–1470.
20. ^Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO. Enzyme therapy in Gaucher disease Type 1: Comparative efficacy of mannose-terminated glucocerebrosidase from natural an recombinant sources. Ann Int Med 1995; 122: 33–39.
21. ^Brady RO, Tallman JF, Johnson WG, Gal AE, Leahy WE, Quirk JM, Dekaban AS. Replacement therapy for inherited enzyme deficiency: use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 1973; 289: 9–14.
22. ^Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, Quirk J M, Zirzow GC, Borowski M, Loveday K, Anderson T, Oliver KL, Gunter K, Frei, K, Crutchfield K, Selden RF, Brady RO. Infusion of a-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000; 97: 365–370.
23. ^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

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