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Rare Diseases and Orphan Drugs

Keys to Understanding and Treating the Common Diseases

Autorzy: Jules J. Berman Wydawnictwo: Elsevier Science Data wydania: 2014 Język publikacji: Angielski Liczba stron: 400 Formaty publikacji: EAN: 9780124200098 ISBN: 9780124200098 Kategoria: Medicine Indeks wydawcy: 9780124200098 Nota bibliograficzna: 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. His post-doctoral studies were completed at the U.S. National Institutes of Health, and his medical residency was completed at the George Washington University Medical Center in Washington, D.C. 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 became the Program Director for Pathology Informatics in the Cancer Diagnosis Program at the U.S. National Cancer Institute. In 2006, Dr. Berman was President of the Association for Pathology Informatics. In 2011 he received the Lifetime Achievement Award from the Association for Pathology Informatics. Dr. Berman has made many contributions to the field of data science, particularly in the areas of identification, deidentification, data exchange protocols, standards development, regulatory/legal issues, and metadata annotation. He is first author on over one hundred journal articles and a co-author on over two hundred scientific publications. Today Dr. Berman is a free-lance author, writing extensively in his three areas of expertise: informatics, computer programming, and medicine. A complete list of his publications is available at http://www.julesberman.info/pubs.htm

Opis

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.

Afiljacja autora

Jules J. Berman: Ph.D., M.D., freelance author with expertise