Gaucher Disease
Features
Summary
In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition!
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.
Table of Contents
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
Editorial Reviews
Commended in the Haematology category of the 2007 British Medical Association Medical Book Competition!
"The book is a very valuable source for specialists interested in various aspects of Gaucher disease… There is no doubt that this book will be very useful for medical schools and university students and their teachers involved in study of rare human diseases."
--in Biokhimiya, 2008
"… summarizes the latest achievements in the study of Gaucher disease… Various chapters of the book were written by internationally known experts from many countries who made significant progress in the study of different aspects of Gaucher disease on clinical, biochemical, molecular biological, and genetic levels. …The book is a very valuable source for specialists interested in various aspects of Gaucher disease: from physicians to biochemists, molecular biologists, geneticists, and biotechnologists. There is no doubt that this book will be very useful for medical schools and university students and their teachers involved in study of rare human diseases."
—G. Ya. Wiederschain, Doctor of Biological Sciences, in Biochemistry, 2008, Vol. 73, No. 12
"I recommend the text to anyone who professes an interest in Gaucher disease. It is by far the best and most comprehensive review of this disorder."
– Ed Wraith, Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, in Human Genetics, 2007, Vol. 121
