Rare Diseases And Orphan Drugs: Keys To Understanding And Treating The Common Diseases

Paperback | October 30, 2017

byJules J. Berman

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Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease e.g., disorders of cell development, replication, maintenance, function and structure , that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases.

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From the Publisher

Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the co...

From the Jacket

"This book about rare diseases is a rare book. Few authors have the breadth of knowledge to cover the field of rare diseases. Jules J. Berman, well known in medical informatics, tutors the reader with a mix of history, genetics, medicine and social commentary on common versus rare disorders. The book is readable, interesting and unexpe...

Jules Berman holds two bachelor of science degrees from MIT (Mathematics, and Earth and Planetary Sciences), a PhD from Temple University, and an MD, from the University of Miami. He was a graduate researcher in the Fels Cancer Research Institute, at Temple University, and at the American Health Foundation in Valhalla, New York. His po...

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Format:PaperbackDimensions:400 pages, 8.75 × 6.35 × 0.68 inPublished:October 30, 2017Publisher:Academic PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0128102764

ISBN - 13:9780128102763

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Table of Contents

PART I Understanding the Problem 1. What are the Rare Diseases, and Why Do We Care? 2. What are the Common Diseases? 3. Six Observations to Ponder While Reading This Book

PART II Rare Lessons for Common Diseases 4. Aging 5. Diseases of the Heart and Vessels 6. Infectious Diseases And Immune Deficiencies 7. Diseases of Immunity 8. Cancer

PART III Fundamental Relationships between Rare and Common Diseases 9. Causation And the Limits of Modern Genetics 10. Pathogenesis; Causation's Shadow 11. Rare Diseases and Common Diseases: Understanding Their Fundamental Differences 12. Rare Diseases and Common Diseases: Understanding Their Relationships 13. Shared Benefits 14. Conclusion Appendix I List of Genes Causing More Than One Disease Appendix II Rules, Some of Which are Always True, and All of Which are Sometimes True Glossary Index