Rare Diseases and Orphan Drugs

Keys to Understanding and Treating the Common Diseases
Erscheinungsjahr 2014
ISBN: 978-0-12-419988-0
Verlag: Elsevier Science

Buch, Englisch, 400 Seiten, Format (B × H): 240 mm x 408 mm, Gewicht: 809 g

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.

Autoren/Hrsg.

Berman, Jules J.

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Medizinische Diagnose und Diagnostik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Innere Medizin

Inhaltsverzeichnis

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
II Rules, Some of Which are Always True, and All of Which are Sometimes True

Über Autor(innen)

Berman, Jules J.
Jules Berman holds two Bachelor of Science degrees from MIT (in Mathematics and in Earth and Planetary Sciences), a PhD from Temple University, and an MD from the University of Miami. He was a graduate researcher at the Fels Cancer Research Institute (Temple University) and at the American Health Foundation in Valhalla, New York. He completed his postdoctoral studies at the US National Institutes of Health, and his residency at the George Washington University Medical Center in Washington, DC. Dr. Berman served as Chief of anatomic pathology, surgical pathology, and cytopathology at the Veterans Administration Medical Center in Baltimore, Maryland, where he held joint appointments at the University of Maryland Medical Center and at the Johns Hopkins Medical Institutions. In 1998, he transferred to the US National Institutes of Health as a Medical Officer and as the Program Director for Pathology Informatics in the Cancer Diagnosis Program at the National Cancer Institute. Dr. Berman is a past President of the Association for Pathology Informatics and is the 2011 recipient of the Association’s Lifetime Achievement Award. He is a listed author of more than 200 scientific publications and has written more than a dozen books in his three areas of expertise: informatics, computer programming, and pathology. Dr. Berman is currently a freelance writer.