William S. Sly (born October 19, 1932) is an internationally known physician and scientist who, except for sabbatical years at Oxford and Stanford, spent his entire academic career in St. Louis. Following M.D. training at Saint Louis University School of Medicine, he trained in internal medicine at Washington University in St. Louis and in research laboratories at the NIH, in Paris, and in Madison, Wisconsin. He then joined the faculty at Washington University, where he directed the division of medical genetics for 20 years. In 1984, he was recruited to St. Louis University School of Medicine and appointed Alice A. Doisy Professor and chairman of the Edward A. Doisy Department of Biochemistry and Molecular Biology. He chaired that department for 26 years. In February 2007, he was also named the inaugural holder of the James B. and Joan C. Peters Endowed Chair in Biochemistry and Molecular Biology. He became an emeritus professor in July 2014.
National Academy of Sciences Passano Foundation Award Peter H. Raven Lifetime Achievement Award Burlington Northern Foundation Faculty Achievement Award Coriell Medal in Scientific Achievement IBIS Marcel Simon Award
Sly has made important contributions to several research areas. His group described the first patient with MPS VII (Sly syndrome) and worked with collaborators at The Jackson Laboratory to develop and characterize the mouse model of this disease. He headed studies that identified the mannose-6 phosphate and mannose receptors that target enzymes to lysosomes, which provided the rationale for enzyme replacement therapy in Gaucher’s disease and other lysosomal storage diseases. These discoveries led to his election to the National Academy of Sciences in 1989. He collaborated with the biotechnology company Ultragenyx to develop enzyme replacement for MPS VII (Sly Syndrome), which went into clinical trials in 2017.[1] The drug, Mepsevii, was approved by the FDA that same year.[2]
Sly also identified the first inherited deficiency of a human carbonic anhydrase, CA II, and defined the biochemical and molecular genetics of this disorder. His laboratory has since characterized many other carbonic anhydrases and produced mouse models of several CA deficiencies. With collaborators, he identified other human diseases attributed to mutations in the genes encoding CA IV, CA VA, and CA XII. Dr. Sly has also done research on hereditary hemochromatosis, collaborating on studies leading to the cloning of the HFE gene and identification of the product it encodes. He also showed that the HFE gene knockout in the mouse produces iron storage resembling human hemochromatosis.
Sly also contributed to resolution of a famous forensic case involving a “missing murder”. He and his colleague James Shoemaker provided evidence that a woman convicted for poisoning her child with ethylene glycol (antifreeze) and sentenced to life in prison without parole, was wrongly convicted. Instead, her child had the inherited disease methylmalonic acidemia. An abnormally elevated metabolite called propionic acid in the child’s serum had been misidentified as ethylene glycol. These findings led to her release and exoneration.[3][4]
Sly has received many awards and honors for his research accomplishments, including induction into the National Academy of Sciences in 1989, the Coriell Medal from the Coriell Institute for Medical Research in Camden, New Jersey, for pioneering work in human genetics, the Peter H. Raven Lifetime Achievement Award from the Academy of Science of St. Louis, the Marcel Simon Prize from The Hemochromatosis Society in Albany, NY and the World Congress of Iron Metabolism in Cairns, Australia, the Distinguished Scientist Award from the Clinical Ligand Assay Society, the Passano Foundation Award (shared with Stuart Kornfeld), and the Burlington Northern Foundation Faculty Achievement Award for outstanding research. Dr. Sly has served on the Scientific Review Board and Medical Advisory Board for the Howard Hughes Medical Institute, the Board of Scientific Overseers for the Jackson Laboratory, and on many scientific societies and other foundations. He served on the editorial boards for several journals and was an editor for the classic metabolic text, The Metabolic and Molecular Bases of Inherited Diseases.
Sly received an honorary doctor of science degree from Washington University in St. Louis in 2007.
^"Ultragenyx Announces FDA Approval of MEPSEVII™ (vestronidase alfa), the First Therapy for Progressive and Debilitating Rare Genetic Disease Mucopolysaccharidosis VII". Ultragenyx.com. Retrieved 27 June 2021.
^"Patricia Stallings - National Registry of Exonerations". www.law.umich.edu. Retrieved 2017-01-29.
^"The Murder That Never Was – Vol. 36 No. 23". PEOPLE.com. 1991-12-16. Retrieved 2017-01-29.
External linksedit
Wikimedia Commons has media related to William S. Sly.
Google Scholar Index of Publications by William S. Sly
St. Louis University Department of Biochemistry and Molecular Biology
Roth DE, Venta PJ, Tashian RE, Sly WS (1992). "Molecular basis of human carbonic anhydrase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (5): 1804–8. Bibcode:1992PNAS...89.1804R. doi:10.1073/pnas.89.5.1804. PMC48541. PMID 1542674.
Sato S, Zhu XL, Sly WS (1990). "Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients". Proc. Natl. Acad. Sci. U.S.A. 87 (16): 6073–6. Bibcode:1990PNAS...87.6073S. doi:10.1073/pnas.87.16.6073. PMC54474. PMID 2117271.
Sly WS, Quinton BA, McAlister WH, Rimoin DL (1973). "Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis". J. Pediatr. 82 (2): 249–57. doi:10.1016/S0022-3476(73)80162-3. PMID 4265197.
January 01, 1970
william, born, october, 1932, internationally, known, physician, scientist, except, sabbatical, years, oxford, stanford, spent, entire, academic, career, louis, following, training, saint, louis, university, school, medicine, trained, internal, medicine, washi. William S Sly born October 19 1932 is an internationally known physician and scientist who except for sabbatical years at Oxford and Stanford spent his entire academic career in St Louis Following M D training at Saint Louis University School of Medicine he trained in internal medicine at Washington University in St Louis and in research laboratories at the NIH in Paris and in Madison Wisconsin He then joined the faculty at Washington University where he directed the division of medical genetics for 20 years In 1984 he was recruited to St Louis University School of Medicine and appointed Alice A Doisy Professor and chairman of the Edward A Doisy Department of Biochemistry and Molecular Biology He chaired that department for 26 years In February 2007 he was also named the inaugural holder of the James B and Joan C Peters Endowed Chair in Biochemistry and Molecular Biology He became an emeritus professor in July 2014 William S SlyBorn 1932 10 19 October 19 1932East St Louis Illinois USANationalityAmericanAlma materSt Louis UniversityKnown forSly SyndromeSpouseMargaret Ann SlyChildren7AwardsNational Academy of SciencesPassano Foundation AwardPeter H Raven Lifetime Achievement AwardBurlington Northern Foundation Faculty Achievement AwardCoriell Medal in Scientific AchievementIBIS Marcel Simon AwardScientific careerFieldsBiochemistryInstitutionsSt Louis UniversityWashington University in St Louis Sly has made important contributions to several research areas His group described the first patient with MPS VII Sly syndrome and worked with collaborators at The Jackson Laboratory to develop and characterize the mouse model of this disease He headed studies that identified the mannose 6 phosphate and mannose receptors that target enzymes to lysosomes which provided the rationale for enzyme replacement therapy in Gaucher s disease and other lysosomal storage diseases These discoveries led to his election to the National Academy of Sciences in 1989 He collaborated with the biotechnology company Ultragenyx to develop enzyme replacement for MPS VII Sly Syndrome which went into clinical trials in 2017 1 The drug Mepsevii was approved by the FDA that same year 2 Sly also identified the first inherited deficiency of a human carbonic anhydrase CA II and defined the biochemical and molecular genetics of this disorder His laboratory has since characterized many other carbonic anhydrases and produced mouse models of several CA deficiencies With collaborators he identified other human diseases attributed to mutations in the genes encoding CA IV CA VA and CA XII Dr Sly has also done research on hereditary hemochromatosis collaborating on studies leading to the cloning of the HFE gene and identification of the product it encodes He also showed that the HFE gene knockout in the mouse produces iron storage resembling human hemochromatosis Sly also contributed to resolution of a famous forensic case involving a missing murder He and his colleague James Shoemaker provided evidence that a woman convicted for poisoning her child with ethylene glycol antifreeze and sentenced to life in prison without parole was wrongly convicted Instead her child had the inherited disease methylmalonic acidemia An abnormally elevated metabolite called propionic acid in the child s serum had been misidentified as ethylene glycol These findings led to her release and exoneration 3 4 Sly has received many awards and honors for his research accomplishments including induction into the National Academy of Sciences in 1989 the Coriell Medal from the Coriell Institute for Medical Research in Camden New Jersey for pioneering work in human genetics the Peter H Raven Lifetime Achievement Award from the Academy of Science of St Louis the Marcel Simon Prize from The Hemochromatosis Society in Albany NY and the World Congress of Iron Metabolism in Cairns Australia the Distinguished Scientist Award from the Clinical Ligand Assay Society the Passano Foundation Award shared with Stuart Kornfeld and the Burlington Northern Foundation Faculty Achievement Award for outstanding research Dr Sly has served on the Scientific Review Board and Medical Advisory Board for the Howard Hughes Medical Institute the Board of Scientific Overseers for the Jackson Laboratory and on many scientific societies and other foundations He served on the editorial boards for several journals and was an editor for the classic metabolic text The Metabolic and Molecular Bases of Inherited Diseases Sly received an honorary doctor of science degree from Washington University in St Louis in 2007 References edit MPS 7 for Patients Lysosomal Storage Disorder Metabolic Rare Disease Ultragenyx www ultragenyx com Retrieved 2017 01 29 Ultragenyx Announces FDA Approval of MEPSEVII vestronidase alfa the First Therapy for Progressive and Debilitating Rare Genetic Disease Mucopolysaccharidosis VII Ultragenyx com Retrieved 27 June 2021 Patricia Stallings National Registry of Exonerations www law umich edu Retrieved 2017 01 29 The Murder That Never Was Vol 36 No 23 PEOPLE com 1991 12 16 Retrieved 2017 01 29 External links edit nbsp Wikimedia Commons has media related to William S Sly Google Scholar Index of Publications by William S Sly St Louis University Department of Biochemistry and Molecular Biology William S Sly interviewed by Rare Disease Report National Organization for Rare Diseases MPS VII MPS VII Page on the MPS Society WebsiteFurther reading editSly WS Hu PY 1995 Human carbonic anhydrases and carbonic anhydrase deficiencies Annu Rev Biochem 64 1 375 401 doi 10 1146 annurev bi 64 070195 002111 PMID 7574487 Roth DE Venta PJ Tashian RE Sly WS 1992 Molecular basis of human carbonic anhydrase II deficiency Proc Natl Acad Sci U S A 89 5 1804 8 Bibcode 1992PNAS 89 1804R doi 10 1073 pnas 89 5 1804 PMC 48541 PMID 1542674 Sato S Zhu XL Sly WS 1990 Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II deficient patients Proc Natl Acad Sci U S A 87 16 6073 6 Bibcode 1990PNAS 87 6073S doi 10 1073 pnas 87 16 6073 PMC 54474 PMID 2117271 Sly WS Quinton BA McAlister WH Rimoin DL 1973 Beta glucuronidase deficiency report of clinical radiologic and biochemical features of a new mucopolysaccharidosis J Pediatr 82 2 249 57 doi 10 1016 S0022 3476 73 80162 3 PMID 4265197 Retrieved from https en wikipedia org w index php title William S Sly amp oldid 1209282716, wikipedia, wiki, book, books, library,
