Molecular Pathology, The Molecular Basis of Human Disease

Most "pathology" textbooks cover diseases and disease processes from the perspective of description (what does it look like and what are its characteristics), risk factors, disease-causing agents, and to some extent, cellular mechanisms. However, these books typically contain very sparse coverage (if any at all) of molecular mechanisms of disease. The reason for this is partially historical - most major forms of disease have been known for a long time, but the molecular basis of these diseases are not always known or have been elucidated only recently. Nevertheless, our overall understanding of the molecular and genetic mechanisms of the pathogenesis of most major human diseases has been advancing at a significant pace over the last two decades. As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, there is a need for a new textbook where molecular mechanisms represent the focus. Molecular Pathology focuses on the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine.

Molecular Pathology is appropriate as a classroom teaching tool for medical students, biomedical graduate students, and some allied health students. In addition, it should be used as a reference book for practicing basic scientists and physician scientists that perform disease-related research. Further, this textbook will be valuable for pathology residents and other postdoctoral fellows who need to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school.

Table of Contents

PART I: Essential Pathology - Mechanisms of Disease Chapter 1: Molecular Mechanisms of Cell Death John J. Lemasters, M.D., Ph.D., Department of Pharmaceutical Sciences, Medical University of South Carolina, Charleston, SC Chapter 2: Acute and Chronic Inflammation Vladislav Dolgachev, Ph.D. and Nicholas W. Lukacs, Ph.D., Department of Pathology, University of Michigan, Ann Arbor, MI Chapter 3: Infection and Host Response Sheldon M. Campbell, M.D., Ph.D. and Margret Oethinger, M.D.,Ph.D., Department of Laboratory Medicine, Yale University School of Medicine, New Haven, CT Chapter 4: Neoplasia William B. Coleman, Ph.D., and Tara Rubinas, M.D., Department of Pathology and Laboratory Medicine, UNC Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC PART II: Concepts in Molecular Biology and Genetics Chapter 5: Basic Concepts in Human Molecular Genetics W. Edward Highsmith, Ph.D., and Kara A. Mensink, M.S., C.G.C., Molecular Genetics Laboratory, Mayo Clinic, Rochester, MN Chapter 6: The Human Genome: Implications for the Understanding of Human Disease Ashley Rivenbark, M.D., Department of Pathology and Laboratory Medicine, UNC Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC Chapter 7: The Human Transcriptome: Implications for the Understanding of Human Disease Reinhold Schafer, Ph.D., Matthias E. Futschik, Ph.D., Wolfgang Kemmner, Ph.D., and Christine Sers, Ph.D., Laboratory of Molecular Tumor Pathology, Institute of Pathology, Charite-Universitatsmedizin Berlin, Berlin, Germany Chapter 8: The Human Epigenome: Implications for the Understanding of Human Disease Manel Esteller, Ph.D. and Maria Berdasco, Ph.D., Cancer Epigenetics Laboratory, Spanish National Cancer Centre, Madrid, Spain Chapter 9: The Human Proteome: Implications for the Understanding of Human Disease Lance Liotta, Ph.D., Virginia Espina, Claudia Fredolini, Weidong Zhou, and Emanuel Petricoin, The Center for Applied Proteomics and Molecular Medicine, George Mason University, Manassas, VA Chapter 10: Integrative Systems Biology: Implications for the Understanding of Human Disease, M. Michael Barmada, Ph.D. and David C. Whitcomb, Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA PART III: Principles and Practice of Molecular Pathology Chapter 11: Pathology: The Clinical Description of Human Disease William K. Funkhouser, M.D., Ph.D., Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC Chapter 12: Molecular Pathogenesis: The Biological Basis of Human Disease William B. Coleman, Ph.D, and Gregory J. Tsongalis, Ph.D., Department of Pathology and Laboratory Medicine, UNC Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC, and Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Dartmouth University, Lebanon, NH Chapter 13: Integration of Molecular and Cellular Pathogenesis Jason H. Moore, Ph.D., and C. Harker Rhodes, M.D., Computational Genetics Laboratory, Departments of Genetics and Pathology, Cotton Norris Cancer Center, Dartmouth-Hitchcock Medical Center, Dartmouth University, Lebanon, NH PART IV: Molecular Pathology of Human Disease Chapter 14: Molecular Basis of Cardiovascular Disease Avrum I. Gotlieb, M.D.C.M. and Amber Chang Liu, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada Chapter 15: Molecular Basis of Hemostatic and Thrombotic Diseases Nigel S. Key, M.D., and Alice Ma, M.D., Departments of Medicine and Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC Chapter 16: Molecular Basis of Lymphoid and Myeloid Diseases Dong-Er Zhang, Ph.D. and Joseph Biggs, Ph.D., Department of Molecular and Experimental Medicine, Kellogg School of Science and Technology, The Scripps Research Institute, La Jolla, CA Chapter 17: Molecular Basis of Diseases of Immunity David O. Beenhouwer, Ph.D., Division of Infectious Diseases, Veterans Affairs Greater Los Angeles Healthcare System, Department of Medicine, David Geffen School of Medicine, Department of Microbiology, Immunology and Molecular Genetics and the Molecular Biology Institute, University of California, Los Angeles, California Chapter 18: Molecular Basis of Pulmonary Disease Dani S. Zander, M.D., and Carol Farver, M.D., Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA, and Department of Anatomic Pathology, The Cleveland Clinic Foundation, Cleveland, OH Chapter 19: Molecular Basis of Diseases of the Gastrointestinal Tract Antonio Sepulveda, M.D., Ph.D. and Dara L. Aisner, M.D., Ph.D., Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia PA Chapter 20: Molecular Basis of Liver Disease Satdarshan P. Singh Monga, M.D. and Jaideep Behari, M.D., Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA Chapter 21: Molecular Basis of Diseases of the Exocrine Pancreas Markus M. Lerch, M.D., Department of Gastroenterology, Endocrinology and Nutrition, Ernst-Moritz-Arndt-University, Greifswald, Germany Chapter 22: Molecular Basis of Diseases of the Endocrine System Malcolm M. Martin, M.D., Arlene L. Martin, M.D., Alan L.Y. Pang, Ph.D., and Wai-Yee Chan, Ph.D., Department of Biochemistry and Molecular Biology, Georgetown University School of Medicine, Washington, DC Chapter 23: Molecular Basis of Gynecologic Diseases Samuel Chi-ho Mok, Ph.D., Kwong-Kwok Wong, Ph.D., Karen Lu, M.D., Karl Munger, Ph.D., and Zoltan Nagymanyoki, Ph.D., Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women’s Hospital, Harvard Medical School, Dana-Farber Harvard Cancer Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA Chapter 24: Molecular Basis of Prostate Disease William G. Nelson, M.D., Ph.D., Angelo M. De Marzo, M.D., Ph.D., and Carlise R. Bethel, M.D., Ph.D., Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD Chapter 25: Molecular Basis of Breast Disease Christos Sotiriou, M.D., Ph.D., Natasha Snoj, Phuong Dinh, and Philippe Bedard, Translational Research Unit, Jules Bordet Institute, Universite Libre de Bruxelles, Brussels, Belgium Chapter 26: Molecular Basis of Skin Disease John A. McGrath, Ph.D., and Vesarat Wessagowit, M.D., Ph.D., Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College and St. Thomas’ School of Medicine, London, UK Chapter 27: Molecular Basis of Diseases of the Nervous System Joshua A. Sonnen, M.D., C. Dirk Keene, M.D., Robert F. Hevner, M.D., and Thomas J. Montine, M.D., Ph.D., Division of Neuropathology, Department of Pathology, University of Washington, Seattle, WA PART V: Practice of Molecular Medicine Chapter 28: Molecular Diagnosis of Human Disease Grant Bullock, M.D., Ph.D., and Lawrence M. Silverman, Ph.D., Department of Pathology, University of Virginia Health System, Charlottesville, VA Chapter 29: Molecular Assessment of Human Disease in the Clinical Laboratory Gregory J. Tsongalis, Ph.D. and Joel A. Lefferts, M.D., Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Dartmouth University, Lebanon, NH Chapter 30: Pharmacogenomics and Personalized Medicine in the Treatment of Human Disease Gregory J. Tsongalis, Ph.D. and Hong Kee Lee, Ph.D., Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Dartmouth University, Lebanon, NH