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.

Ceramide Generation 127 Ceramide Targets 129 Ceramide Function 129 Therapeutic Implications 130 Concluding Remarks 130 14. Ceramide Glycosylation and Chemotherapy Resistance 133 Myles C. Cabot 15. Ceramide in Serum Lipoproteins: Function and Regulation of Metabolism 141 Mariana N. Nikolova-Karakashian Abstract ...141 Int roduction 141 Ceramide is a Component ofSerum Lipoproteins 142 Secretion of Ceramide in the Form ofVLOL by the Liver 142 Generation of Ceramide in LOL Particles 143 Biological Consequences of Elevation of Ceramide Concentrations in LDL 145 Conclusions and Future Directions 147 16. T herapeutic Implications of Ceramide-Regulated Signaling Cascades 149 Mark Kester, fongK Yun, Tom Stover andLakshman Sandirasegarane Abstract 149 The Bench-Ceramides and Signaling Cascades 149 The Bedside-Ceramides and Cardiovascular Disease 150 The Bedside-Ceramides and Cancer 153 The Bedside-Other Potential Applications for Ceramide-Based Therapeutics 155 Conclusions-Back to the Bench 155 Index 161 EDITOR ====================;-t Anthony H. Futerman, PhD Department of Biological Chemistry Weizmann Institute of Science Rehovot, Israel email: tony. futerman@Weizmann. ac. iI Chapter 11 I===========CONTRIBUTORS==========~ JeremyC. Allegood Myles C. Cabot Schoolof Biology John Wayne Cancer Institute Petit Institute for Bioengineering SantaMonica, California, U. S. A. and Biosciences email: cabot@jwci. org GeorgiaInstitute of Technology Chapter 14 Atlanta, Georgia, U. S. A. Chapter 1 Charles E. Chalfant Department of Biochemistry Lindsay Andras and Molecular Biology Schoolof Biology Medical University of South Carolina Petit Institute for Bioengineering Charleston, South Carolina, U. S. A. and Biosciences email: chalfant@musc. edu Georgia Institute of Technology Chapter 6 Atlanta, Georgia, U. S. A.

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.