Rare Diseases and Orphan Drugs

Rare Diseases and Orphan Drugs

Keys to Understanding and Treating the Common Diseases

1st Edition - May 26, 2014
  • Author: Jules Berman
  • eBook ISBN: 9780124200098
  • Hardcover ISBN: 9780124199880

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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.

Key Features

  • 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


Biomedical researchers, medical professionals, medical students, and biomedical graduate students treating and or researching rare and orphan diseases

Table of Contents

    • Dedication
    • Acknowledgments
    • Foreword
    • Preface
      • Content and Organization of the Book
      • Rules Governing the Rare Diseases
      • Who Should Read this Book?
      • How to Read this Book
    • Chapter 1. What are the Rare Diseases, and Why do we Care?
      • Abstract
      • 1.1 The definition of rare disease
      • 1.2 Remarkable progress in the rare diseases
      • References
    • Chapter 2. What are the Common Diseases?
      • Abstract
      • 2.1 The common diseases of humans, a short but terrifying list
      • 2.2 The recent decline in progress against common diseases
      • 2.3 Why medical scientists have failed to eradicate the common diseases
      • References
    • Chapter 3. Six Observations to Ponder while Reading this Book
      • Abstract
      • 3.1 Rare diseases are biologically different from common diseases
      • 3.2 Common diseases typically occur in adults; rare diseases are often diseases of childhood
      • 3.3 Rare diseases usually occur with a Mendelian pattern of inheritance. common diseases are non-Mendelian
      • 3.4 Rare diseases often occur as syndromes, involving several organs or physiologic systems, often in surprising ways. common diseases are typically non-syndromic (see Section 10.1)
      • 3.5 Environmental factors play a major role in the cause of common diseases; less so in the inherited rare diseases
      • 3.6 The difference in rates of occurrence of the rare diseases compared with the common diseases is profound, often on the order of a thousand-fold
      • 3.7 There are many more rare diseases than there are common diseases
      • References
    • Chapter 4. Aging
      • Abstract
      • 4.1 Normal patterns of aging
      • 4.2 Aging and immortality
      • 4.3 Premature aging disorders
      • 4.4 Aging as a disease of non-renewable cells
      • References
    • Chapter 5. Diseases of the Heart and Vessels
      • Abstract
      • 5.1 Heart attacks
      • 5.2 Rare desmosome-based cardiomyopathies
      • 5.3 Sudden death and rare diseases hidden in unexplained clinical events
      • 5.4 Hypertension and obesity: quantitative traits with cardiovascular co-morbidities
      • References
    • Chapter 6. Infectious Diseases and Immune Deficiencies
      • Abstract
      • 6.1 The burden of infectious diseases in humans
      • 6.2 Biological taxonomy: where rare infectious diseases mingle with the common infectious diseases
      • 6.3 Biological properties of the rare infectious diseases
      • 6.4 Rare diseases of unknown etiology
      • 6.5 Fungi as a model infectious organism causing rare diseases
      • References
    • Chapter 7. Diseases of Immunity
      • Abstract
      • 7.1 Immune status and the clinical expression of infectious diseases
      • 7.2 Autoimmune disorders
      • References
    • Chapter 8. Cancer
      • Abstract
      • 8.1 Rare cancers are fundamentally different from common cancers
      • 8.2 The dichotomous development of rare cancers and common cancers
      • 8.3 The Genetics of Rare Cancers and Common Cancers
      • 8.4 Using rare diseases to understand carcinogenesis
      • References
    • Chapter 9. Causation and the Limits of Modern Genetics
      • Abstract
      • 9.1 The inadequate meaning of biological causation
      • 9.2 The complexity of the so-called monogenic rare diseases
      • 9.3 One monogenic disorder, many genes
      • 9.4 Gene variation and the limits of pharmacogenetics
      • 9.5 Environmental phenocopies of rare diseases
      • References
    • Chapter 10. Pathogenesis: Causation’s Shadow
      • Abstract
      • 10.1 The mystery of tissue specificity
      • 10.2 Cell regulation and epigenomics
      • 10.3 Disease phenotype
      • 10.4 Dissecting pathways using rare diseases
      • 10.5 Precursor lesions and disease progression
      • References
    • Chapter 11. Rare Diseases and Common Diseases: Understanding their Fundamental Differences
      • Abstract
      • 11.1 Review of the fundamentals in light of the incidentals
      • 11.2 A trip to Monte Carlo: how normal variants express a disease phenotype
      • 11.3 Associating genes with common diseases
      • 11.4 Mutation versus variation
      • References
    • Chapter 12. Rare Diseases and Common Diseases: Understanding their Relationships
      • Abstract
      • 12.1 Shared genes
      • 12.2 Shared phenotypes
      • References
    • Chapter 13. Shared Benefits
      • Abstract
      • 13.1 Shared prevention
      • 13.2 Shared diagnostics
      • 13.3 Shared cures
      • References
    • Chapter 14. Conclusion
      • Abstract
      • 14.1 Progress in the rare diseases: social and political issues
      • 14.2 Smarter clinical trials
      • 14.3 For the common diseases, animals are poor substitutes for humans
      • 14.4 Hubris
      • References
    • 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
      • Do-it-yourself rules
      • References
    • Glossary
      • References
    • Index

Product details

  • No. of pages: 400
  • Language: English
  • Copyright: © Academic Press 2014
  • Published: May 26, 2014
  • Imprint: Academic Press
  • eBook ISBN: 9780124200098
  • Hardcover ISBN: 9780124199880

About the Author

Jules Berman

Jules Berman
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.

Affiliations and Expertise

Freelance author with expertise in informatics, computer programming, and cancer biology