Principles of Molecular Medicine

Description

Includes supplementary material: sn.pub/extras

First Edition Winner of the Book of the Year Award from Doody's Health Science Book Review Journal

Review From the First Edition

"The selection of topics, the ability of the contributors to present complex topics in a clear, concise manner, and the format should all contribute to making this book the standard text and reference in its field. It should be in the collection of every medical library and on the bookshelf of every physician interested in keeping up with the transformation of medicine by molecular genetics." 5 Stars-Doody's Health Science Book Review Journal.

The second edition of Principles of Molecular Medicine features new discoveries that have occurred in molecular medicine along with rapid technologic advances that have revolutionized the diagnosis and treatment of diseases. As in the first edition, this book includes chapters describing advances in fields paralleling traditional medical texts, and will be especially useful to specialists who are updating their education, practicing physicians interested in keeping abreast of new developments and students appropriately curious about what is known and what lies ahead. In addition, new developments in understanding biology of previously untreatable neurodegenerative diseases are included in this edition.
I. Genetics Terry Magnuson and James P. Evans Mendelian Inheritance, Bruce R. Korf. Nontraditional Inheritance Shawn E. McCandless and Suzanne B. Cassidy Identifying Causal Genetic Factors Christopher I. Amos, John S. Witte, and William G. Newman Cancer Genetics and Molecular Oncology Sharon E. Plon Pharmacogenetics Renee E. Edkins and Dennis J. Cheek Hemophilia as a Model Disease for Gene Therapy of Genetic Disorders Jay Lozier Genetic Counseling Robin L. Bennett Animal Models in Biomedical Research: Ethics, Challenges, and Opportunities Robert W. Williams Ethical, Legal, and Social Implications Marcia Van Riper II. Cardiology Anthony Rosenzweig Congenital Heart Disease Lazaros K. Kochilas and Alvin J. Chin Inherited Cardiomyopathies Carolyn Y. Ho and Christine E. Seidman Heart Failure: Emerging Concepts in Excitation-Contraction Coupling and b-Adrenoceptor Coupling Clive J. Lewis, Federica del Monte, Sian E. Harding, and Roger J. Hajjar Aortic Diseases Saumya Das, James L. Januzzi, Jr., and Eric M. Isselbacher Atherosclerotic Coronary Disease Robert E. Gerszten and Anthony Rosenzweig Lipid Metabolism and Coronary Artery Disease Mason W. Freeman Hypertension Khurshed A. Katki and Donald J. DiPette Cardiac Hypertrophy Thomas Force and Jeffrey D. Molkentin Arrhythmias Barry London Genomics Calum A. MacRae and Christopher J. O'Donnell Cardiovascular Gene Therapy David A. Dichek III. Pulmonary Diseases Richard C. Boucher and Peadar G. Noone Idiopathic Interstitial Pneumonias Talmadge E. King, Jr. Asthma Stephen T. Holgate, Gordon Dent, and Mark G. Buckley Pulmonary Emphysema Steven D. Shapiro Pulmonary Hypertension Brian Fouty and David M. Rodman Acute Lung Injury David C. Christiani and Michelle Ng Gong Primary Ciliary Dyskinesia Peadar G. Noone, Maimoona Zariwala, and Michael R. Knowles Cystic Fibrosis Scott H. Donaldson and Richard C. Boucher Gene Therapy for Lung Diseases Jane C. Davies, Duncan M. Geddes, and Eric W.F.W. Alton Sarcoidosis Kelly D. Chason and Stephen L. Tilley Disorders of Pulmonary Surfactant Homeostasis Jeffrey A. Whitsett, Susan E. Wert, and Bruce C. Trapnell IV. Endocrinology Michael J. McPhaul Mechanisms of Hormone Action Stephen R. Hammes, Carol A. Lange, and Michael J. McPhaul Diabetes Mellitus William L. Lowe, Jr. Pituitary Function and Neoplasia Shlomo Melmed Growth Hormone Deficiency Disorders Amy Potter and John A. Phillips, III. Thyroid Disorders Peter Kopp Disorders of the Parathyroid Gland Andrew Arnold and Michael A. Levine Congenital Adrenal Hyperplasia Robert C. Wilson and Maria I. New Adrenal Diseases Richard J. Auchus, William E. Rainey, and Keith L. Parker Multiple Endocrine Neoplasia Type 1 Rajesh V. Thakker Multiple Endocrine Neoplasia Type 2 Robert F. Gagel, Sarah Shefelbine, Hironori Hayashi, and Gilbert Cote Disorders of Sex Determination and Differentiation Charmian A. Quigley Sex Chromosome Disorders Andrew R. Zinn Disorders of Pubertal Development Tomonobu Hasegawa Defects of Androgen Action Michael J. McPhaul Molecular Endocrinology of the Testis Marco Marcelli, Glenn R. Cunningham, José M. Garcia, Kirk C. Lo, and Dolores J. Lamb Ovarian Diseases Elizabeth A. McGee and Tammy L. Loucks V. Metabolic

Sujets

• Médecine
• Spécialités médicales
• Internal Medicine
• Medical
• Termination
• Medicine
• C

Informations

• Publié par: Humana Press
• Date de parution: 18 novembre 2007
• Nombre de lectures: 0
• EAN13: 9781592599639
• Langue: English
• Poids de l'ouvrage: 110 Mo

Extrait

PRINCIPLES OF MOLECULAR MEDICINE
SECOND EDITIONSECTION EDITORS
RICHARD C. BOUCHER, MD W. STRATFORD MAY, JR., MD, PhD
CYSTIC FIBROSIS RESEARCH AND TREATMENT CENTER UNIVERSITY OF FLORIDA SHANDS CANCER CENTER
DIVISION OF PULMONARY DISEASES UNIVERSITY OF FLORIDA
DEPARTMENT OF MEDICINE GAINESVILLE, FL
UNIVERSITY OF NORTH CAROLINA
CHAPEL HILL, NC MICHAEL J. MCPHAUL, MD
DEPARTMENT OF INTERNAL MEDICINE
DAVID A. BRENNER, MD UNIVERSITY OF TEXAS
DEPARTMENT OF MEDICINE SOUTHWESTERN MEDICAL CENTER
COLLEGE OF PHYSICIANS AND SURGEONS DALLAS, TX
COLUMBIA UNIVERSITY MEDICAL CENTER
NEW YORK, NY WILLIAM E. MITCH, MD
DIVISION OF NEPHROLOGY
LUIS A. DIAZ, MD BAYLOR COLLEGE OF MEDICINE
DEPARTMENT OF DERMATOLOGY HOUSTON, TX
SCHOOL OF MEDICINE
UNIVERSITY OF NORTH CAROLINA CHARLES B. NEMEROFF, MD, PhD
CHAPEL HILL, NC
DEPARTMENT OF PSYCHIATRY
AND BEHAVIORAL SCIENCES
JAMES P. EVANS, MD, PhD EMORY UNIVERSITY SCHOOL OF MEDICINE
DEPARTMENT OF GENETICS ATLANTA, GA
UNIVERSITY OF NORTH CAROLINA
CHAPEL HILL, NC PEADAR G. NOONE, MD
CYSTIC FIBROSIS RESEARCH AND TREATMENT CENTER
DANIEL J. GARRY, MD, PhD DIVISION OF PULMONARY DISEASES
DEPARTMENTS OF INTERNAL DEPARTMENT OF MEDICINE
MEDICINE AND MOLECULAR BIOLOGY UNIVERSITY OF NORTH CAROLINA
UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER CHAPEL HILL, NC
DALLAS, TX
KERRY J. RESSLER, MD, PhD
LOWELL A. GOLDSMITH, MD, MPH DEPARTMENT OF PSYCHIATRY
DEPARTMENT OF DERMATOLOGY AND BEHAVIORAL SCIENCES
SCHOOL OF MEDICINE EMORY UNIVERSITY SCHOOL OF MEDICINE
UNIVERSITY OF NORTH CAROLINA ATLANTA, GA
CHAPEL HILL, NC
ANTHONY ROSENZWEIG, MD
STEVEN M. HOLLAND, MD CENTER FOR IMMUNOLOGY
LABORATORY OF CLINICAL INFECTIOUS DISEASES AND INFLAMMATORY DISEASES
NATIONAL INSTITUTE OF ALLERGY MASSACHUSETTS GENERAL HOSPITAL
AND INFECTIOUS DISEASE BOSTON, MA
NATIONAL INSTITUTES OF HEALTH
BETHESDA, MD STEPHEN M. STRITTMATTER, MD, PhD
DEPARTMENT OF NEUROLOGY
SAMUEL KLEIN, MD YALE UNIVERSITY SCHOOL OF MEDICINE
CENTER FOR HUMAN NUTRITION NEW HAVEN, CT
DIVISION OF GERIATRICS AND NUTRITIONAL SCIENCES
WASHINGTON UNIVERSITY SCHOOL OF MEDICINE SWEE LAY THEIN, DSc,
ST. LOUIS, MO
FRCP, FRCPath, FMedSci
DEPARTMENT OF HAEMATOLOGICAL MEDICINETERRY MAGNUSON, PhD
GUY'S, KING'S AND ST. THOMAS'
DEPARTMENT OF GENETICS SCHOOL OF MEDICINE
UNIVERSITY OF NORTH CAROLINA LONDON, UK
CHAPEL HILL, NCPRINCIPLES OF
MOLECULAR
MEDICINE
SECOND EDITION
EDITED BY
MARSCHALL S. RUNGE, MD, PhD
DEPARTMENT OF MEDICINE, DIVISION OF CARDIOLOGY
CAROLINA CARDIOVASCULAR BIOLOGY CENTER
UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE
CHAPEL HILL, NC
CAM PAAATTERSON, MD
DEPARTMENT OF MEDICINE, DIVISION OF CARDIOLOGY
CAROLINA CARDIOVASCULAR BIOLOGY CENTER
UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE
CHAPEL HILL, NC
FOREWORD BY
VICTOR A. MCKUSICK, MD
JOHNS HOPKINS UNIVERSITY
BALTIMORE, MD© 2006 Humana Press Inc.
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Library of Congress Cataloging in Publication Data
Principles of molecular medicine / edited by Marschall S. Runge ; fore-
word by Victor A. Mckusick. -- 2nd ed.
p. ; cm.
Includes bibliographical references and index.
ISBN 1-58829-202-9 (alk. paper)
1. Medical genetics. 2. Pathology, Molecular. 3. Molecular biology.
I. Runge, Marschall Stevens, 1954- .
[DNLM: 1. Genetics, Medical. 2. Gene Therapy. 3. Molecular
Biology. QZ 50 P9573 2006]
RB155.P695 2006
616'.042--dc22
2005034346Foreword
The concept of molecular medicine dates back to Linus means that there are many new opportunities and challenges
Pauling, who in the late 1940s and early 1950s generalized for clinical medicine. One of the effects of the completion of
from the ideas that came from the study of the sickle cell the Human Genome Project is the increasing application of
hemoglobin molecule. With the first cloning of human genes the fields of molecular biology and genetics to the
underabout 1976, molecular genetics took the molecular perspec- standing and management of common diseases.
Assimilative on disease to the level of DNA. The term molecular tion of the new developments since the first edition has been
medicine achieved wide currency in the 1980s with the ably accomplished by Drs. Runge and Patterson with the
assignment of this designation to journals, at least one soci- help of their many knowledgeable authors.
ety, institutes, and academic divisions of departments of in- As was evident in the first edition, molecular genetics is
ternal medicine. Undoubtedly, molecular medicine has been involved in every specialty of medicine. A recurrent theme
abetted by the Human Genome Project, which has aided in that edition, perhaps even more striking in the present one,
greatly in the molecular characterization of disease. Map- is that information gleaned and research methods designed
based gene discovery, as in positional cloning of previously in one specialty have been highly influential on researchers
unknown genes responsible for “mystery diseases,” could and physicians in other fields—often in ways that could not
be now replaced by sequence-based gene discovery. have been foreseen. The editors have succeeded in
considWhat is molecular medicine? In the first edition of Prin- ering all the disciplines while searching for connections and
ciples of Molecular Medicine, Francis Collins seems to correlations that might otherwise be missed.
define it as “molecular genetics and medicine”—the last The organization selected by the editors allows for the
four words of his Foreword. He was referring to the perva- molecular bases of disease, as well as the constantly
evolvsive relevance of genetics and genomics to all of medicine. ing areas of ethical issues and counseling that affect all
disIn essence, molecular medicine is genetic medicine. ciplines, to be covered in the opening section. Specifics in
Since the publication of the first edition Principles of the several medical disciplines are then handled splendidly
Molecular Medicine in 1998, the Human Genome Project in the sections that follow. Each chapter resounds with the
has provided a “complete” sequence of the human genome amazing detail of what is known and simultaneously probes
with several surprising revelations relevant to molecular the many unanswered questions that provide new avenues
medicine. for research in the 21st century. The state-of-the-art focus in
As indicated in the Preface of the first edition, the total each specialty will be much appreciated by the reader,
count of genes was thought to be 50,000 to 80,000. Scrutiny whether practitioner, researcher or student.
of the complete human sequence leads to a count only half The authors and section editors that participated in this
that, perhaps fewer than 30,000. It has come to be realized text are recognized leaders in their fields from around the
that each gene can give rise to multiple protein gene products globe. They and Drs. Runge and Patterson, who have led and
through alternative splicing of pre-messenger RNA, as well coordinated this extraordinary effort, deserve
commendaas through different posttranscriptional modification of the tion. The product is a text that will be useful for all interested
gene products. Each gene may on the average have as many in the molecular pathogenesis of disease.
as 10 different protein products. Mutations in different ones
Victor A. McKusick, MDof these can cause quite different clinical disorders. Thus the
focus has shifted to the transcriptome and to the proteins that
constitute the proteome—a shift from genomics to
proteomics.
Compilation of the rapidly expanded topic of molecular
medicine since the edition of some 8 years ago is a daunting
task. The rate at which new discoveries have been made
vForeword to the First Edition
Until recently, medical genetics and molecular medicine the initiation in 1998 of an aggressive new genome project
were considered the exclusive province of academic spe- goal, cataloging all common human sequence variations, it
cialists in tertiary-care medical centers. Queried about their is expected that the weaker polygenic contributors to
virtufamiliarity with molecular genetic aspects of clinical medi- ally all diseases will begin to be discerned. Many
consecine, most primary-care providers only a few years ago quences will result. Individualized preventive medicine
would have responded that such matters were irrelevant to strategies, rooted in the gene-bas