Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable prototype for the diagnosis, research, and treatment of others. Like many rare conditions, Gaucher disease has benefited from the explosion of medical research in the last decade, the amount of new information on this disease is staggering and the rate of new discoveries has left previous books on the subject unable to provide useful, up-to-date information. The most current, fully comprehensive reference to date, "Gaucher Disease" provides valuable information for academic and industry scientists, and clinicians. Outlining the latest research on the biochemical mechanisms and pathology of lysosomal storage disorders, this book covers diverse topics including animal models, crystallography, imaging and radionuclide evaluation. It not only addresses the developmental basis for current treatments like the now widely available enzyme replacement therapy, but also includes chapters introducing new therapies on the horizon.
With contributions from world-renowned experts in substrate reduction therapy, pharmaceutical chaperone therapy, hematopoietic stem cell transplantation and gene therapy, as well as chapters on a second generation of enzyme replacement therapy, this book explores the full spectrum of possibilities offered by the most recent advances in medicine. Some of the most interesting aspects of the book include the discussions on patient management, those touching on the ethics of research, and the societal aspects of treating rare diseases with expensive therapy.
Introduction: Overview and Historical Perspective, R.O. Brady Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations, K. S. Hruska, M. E. LaMarca, and E. Sidransky Cell Biology and Biochemistry of Acid b-Glucosidase: The Gaucher Disease Enzyme, G. A. Grabowski, A. Kazimierczuk, and B. Liou Saposin C and Other Sphingolipid Activator Proteins, S. Locatelli Hoops, T. Kolter, and K. Sandhoff The X-Ray Structure of Human Acid-b-Glucosidase: Implications for Second-Generation Enzyme replacement therapy, L. Premkumar, I. Silman, J. L. Sussman, and A. H. Futerman Cellular Pathology in Gaucher Disease, A. H. Futerman The Biochemistry and Cellular Biology of Sphingolipids and Glucosylceramide, J. A. Shayman The Development of Enzyme replacement therapy for Lysosomal Diseases: Gaucher Disease and Beyond, E. H. Schuchman, and S. Muro Gaucher Disease Animal Models, Ying Sun, You-Hai Xu, and G. A. Grabowski Type 1 Gaucher Disease - Clinical Features, P Mistry, and Ari Zimran Neuronopathic Gaucher Disease, R. Schiffmann, and A. Vellodi, Pathologic Anatomy of Gaucher Disease, R. E. Lee Neuropathological Aspects of Gaucher Disease , K. Wong Diagnosis and Laboratory Features, C.E.M. Hollak and J.M.F.G. Aerts Imaging in Gaucher Disease, Focused on Bone Pathology, M. Maas and E.M. Akkerman Radionuclide Evaluation of Gaucher Disease, G. Mariani and P. A. Erba Epidemiology and Screening Policy, P.J. Meikle, M. Fuller, and J.J. Hopwood Enzyme replacement therapy for Type I Gaucher Disease, Ari Zimran, B. Bembi, and G. Pastores Substrate Reduction Therapy, F. M. Platt and T. M. Cox Pharmacologic Chaperone Therapy for Lysosomal Diseases, R. J. Desnick and Jian-Qiang Fan The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases, D. J. Begley Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy, C. Peters and W. Krivit Ethical Concerns in Treating Rare Diseases with Expensive Therapy, D. Elstein and A. Steinberg Societal Aspects in Treating Rare Diseases with Expensive Therapy, D. Elstein, and Avi Yisraeli Gaucher Disease as a Model for an Orphan Disease: Medical Aspects, J. Waalen, and E. Beutler Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases, D. Meeker, and H. A. Termeer, Genzyme Corporation Patients' Perspective, S. Lewis, T. Collin-Histed, J. Manuel, and G. Macres Societal Perspective: Comment, A. Alpert, A. M. Garber, and D. P. Goldman Gaucher Associations Around the World Index