Lysosomal Storage Disorders - Couverture rigide

 
9780387709086: Lysosomal Storage Disorders
Couverture rigide
ISBN 10 : 0387709088 ISBN 13 : 9780387709086
Editeur : Springer-Verlag New York Inc., 2007

Synopsis

The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.

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À propos de l'auteur

John A. Barranger, M.D., Ph.D., is a tenured professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh.

He is also director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center. Additionally, he is co-director of the Human Gene Therapy Center.

Previously, Dr. Barranger was a clinical associate at the National Institutes of Health (NIH), where, from 1976 to 1978, he served in the clinical investigations and therapeutics section, Developmental and Metabolic Neurology Branch (DMNB), National Institute of Neurological and Communicative Disorders and Stroke. He ultimately became chief of the molecular and medical genetics section of the DMNB and associate branch chief. Dr. Barranger received a doctorate and medical degree from the University of Southern California Los Angeles, and completed an internship and residency in pediatrics at the University of Minnesota.

Dr. Barranger has devoted his professional career to the study of inherited metabolic diseases, particularly lysosomal storage disorders. His research interests include biochemical and molecular genetics, enzyme therapy, gene transfer, and models of genetic disease. As a result of his investigation of the structure of glucocerebrosidase and receptors on macrophages, Dr. Barranger developed successful enzyme replacement therapy for Gaucher disease, an inherited, potentially lethal lysosomal disorder that affects more than 10,000 people in the United States.

This therapy received Food and Drug Administration approval in 1991 and serves as a treatment model for more than 50 related lysosomal storage disorders.

Currently, Dr. Barranger is focused on developing models of inherited diseases to study their pathobiology and treatment by enzyme and gene therapy.
Included among Dr Barranger's honors are the March of Dimes Health Career Award, United States Public Health Service Commendation Medal, Arthur S. Flemming Award and the Scientific Achievement Award of the National Gaucher Foundation.

In addition to consulting for government and industry, Dr Barranger is a member of numerous professional organizations, including the American Society of Biochemistry and Molecular Biology, American Society of Human Genetics, Society for Inherited Metabolic Disorders, and the Society for Pediatric Research.

Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham. MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science.

Les informations fournies dans la section « A propos du livre » peuvent faire référence à une autre édition de ce titre.

Éditeur
Springer-Verlag New York Inc.
Date d'édition
2007
Langue
anglais
ISBN 10 
0387709088
ISBN 13 
9780387709086
Reliure
Relié
Nombre de pages
584
Éditeur
Barranger John A., Cabrera-Salazar Mario
Coordonnées du fabricant
non disponible
Personne responsable
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