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In this issue of Clinics in Laboratory Medicine, guest editor Dr.
Gregory Tsongalis brings his considerable expertise to Current
Topics in Molecular Diagnostics and Precision Medicine. Top experts
in the field cover key topics such as syndromic and point-of-care
molecular testing; building evidence for clinical use of
pharmacogenomics and reimbursement for testing; precision medicine
using pharmacogenomic panel-testing; and more. Contains 12
relevant, practice-oriented topics including next-generation
sequencing approaches to predicting antimicrobial susceptibility
testing results; the role of the human gutome on chronic disease: a
review of the microbiome and nutrigenomics; blood group genotyping;
review of SARS-CoV-2 antigen and antibody testing in diagnosis and
community surveillance; and more. Provides in-depth clinical
reviews on current topics in molecular diagnostics and precision
medicine, offering actionable insights for clinical practice.
Presents the latest information on this timely, focused topic under
the leadership of experienced editors in the field. Authors
synthesize and distill the latest research and practice guidelines
to create clinically significant, topic-based reviews.
Advances in Molecular Pathology reviews the year's most important
findings and updates within the field in order to provide molecular
pathologists with the current clinical information they need to
improve patient outcomes. A distinguished editorial board, led by
Dr. Gregory Tsongalis, identifies key areas of major progress and
controversy and invites preeminent specialists to contribute
original articles devoted to these topics. These insightful
overviews in molecular pathology inform and enhance clinical
practice by bringing concepts to a clinical level and exploring
their everyday impact on patient care. Provides in-depth, clinical
reviews in molecular pathology, providing actionable insights for
clinical practice. Presents the latest information in the field
under the leadership of an experienced editorial team. Authors
synthesize and distill the latest research and practice guidelines
to create these timely topic-based reviews.
This streamlined "essential" version of the Molecular Pathology
(2009) textbook extracts key information, illustrations and
photographs from the main textbook in the same number and
organization of chapters. It is aimed at teaching students in
courses where the full textbook is not needed, but the concepts
included are desirable (such as graduate students in allied health
programs or undergraduates). It is also aimed at students who are
enrolled in courses that primarily use a traditional pathology
textbook, but need the complementary concepts of molecular
pathology (such as medical students). Further, the textbook will be
valuable for pathology residents and other postdoctoral fellows who
desire to advance their understanding of molecular mechanisms of
disease beyond what they learned in medical/graduate school.
Offers an essentialintroduction to molecular genetics and the
"molecular" aspects of human diseaseTeaches from the perspective of
"integrative systems biology," which encompasses the intersection
of all molecular aspects of biology, as applied to understanding
human diseaseIn-depth presentation of the principles and practice
of molecular pathology: molecular pathogenesis, molecular
mechanisms of disease, and how the molecular pathogenesis of
disease parallels the evolution of the disease using
histopathology. "Traditional" pathology section provides
state-of-the-art information on the major forms of disease, their
pathologies, and the molecular mechanisms that drive these
diseases.Explains the practice of "molecular medicine" and the
translational aspects of molecular pathology: molecular
diagnostics, molecular assessment, and personalized medicineStudent
web site hosts "self-assessment" questions; Professor web site
hosts all figures from bookEach chapter ends with Key Summary
Points and Suggested Readings
"
Diagnostic Molecular Pathology: A Guide to Applied Molecular
Testing, Second Edition assembles a group of experts to discuss the
molecular basis and mechanisms of major human diseases and disease
processes and how the molecular features of disease can be
harnessed to develop practical molecular tests for disease
detection, diagnosis and prognosis. The book explains how molecular
tests are utilized in the treatment of patients in personalized
medicine, highlights new technologies and approaches of applied
molecular pathology, and discusses how this discovery-based
research yields new and useful biomarkers and tests. As it is
essential to stay up-to-date on new molecular diagnostics in this
changing field, this book covers critically important areas in the
practice of personalized medicine and reflects our understanding of
the pathology, pathogenesis and pathophysiology of human disease.
Advances in Molecular Pathology is an annual review publication
that covers the current practices and latest developments in the
field of Molecular Pathology. Each issue is divided into sections
for comprehensive coverage of all subspecialty areas within
molecular pathology, including, Genetics, Hematopathology,
Infectious Disease, Pharmacogenomics, Informatics, Solid Tumors,
and special topics on COVID-19. The Editor-in-Chief of the
publication is Dr. Gregory Tsongalis, a leading expert in the
field. Topics covered this year include but are not limited to:
Phenotype Association and Variant Pathogenicity Prediction Tools in
Genomic Analysis; The application of noninvasive prenatal screening
to detect copy number variations; Next generation cytogenomics
using optical mapping; Review of molecular in APL; NGS for MRD in
acute leukemia; Review of emerging technologies as they pertain to
infectious disease testing; Germline genetic variants that predict
drug response; Nutrigenomics; PGx of hypertension; Genomic data for
blood typing, specifically both through NGS and arrays; Preanalytic
Variables and Tissue Stewardship for Reliable Next-Generation
Sequencing (NGS) Clinical Analysis; and Cell-free nucleic acids in
cancer: Current approaches, challenges, and future directions.
This issue of Advances in Molecular Pathology will provide a
comprehensive review of the most current practices, trends, and
developments in the field of Molecular Pathology. Publishing on an
annual basis, the volume will be divided into 7 sections: Genetics,
Hematopathology, Infectious Disease, Pharmacogenomics, Informatics,
Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of
Dartmouth University, a team of experienced pathologists from
institutions across the country oversee annual topic and expert
author selection.
This issue of Advances in Molecular Pathology will provide a
comprehensive review of the most current practices, trends, and
developments in the field of Molecular Pathology. Publishing on an
annual basis, the volume will be divided into 7 sections: Genetics,
Hematopathology, Infectious Disease, Pharmacogenomics, Informatics,
Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of
Dartmouth University, a team of experienced pathologists from
institutions across the country oversee annual topic and expert
author selection.
In 1994 I coedited a book, Molecular Pathology: Ap- efforts. It
should be evident that molecular pathology and proaches to
Diagnosing Human Disease in the Clinical diagnostics impact almost
every conceivable subspecialty Laboratory, that coined the phrase
"molecular pathology" in laboratory medicine and, particularly in
the case of to refer to applications of molecular biology in the
tradi- pharmacogenomics, have led to the development of new tional
areas of laboratory medicine. That compilation of areas of
investigation. clinical molecular techniques included 11 chapters
and an What is less evident is the burden placed upon the epilogue
on "New Directions for the Clinical Laboratory. " laboratorians
directing these efforts. Issues regarding Chapter headings
included: automation, neoplasia, heri- training, certification,
continuing education, and re- table diseases, and infectious
diseases. bursement (just to name a few) have demanded enormous
Three years later, in 1997, Bill Coleman and Greg Tson- time and
effort from professional organizations and g- galis edited
Molecular Diagnostics: For the Clinical ernmental agencies. In
addition, because conventional Laboratorian, which contained 18
chapters and introduced approaches cannot always be applied to
molecular di- the new areas of RT-PCR and In Situ PCR, and included
nostics, unique solutions for quality assurance and quality a
section on gene therapy. Now, ten years after the intro- control
must be developed. These challenges have eng- duction of molecular
pathology, we are looking at the dered committees, subcommittees,
taskforces, and second edition of Bill Coleman and Greg Tsongalis'
text.
This inaugural issue of Advances in Molecular Pathology will
provide a comprehensive review of the most current practices,
trends, and developments in the field of Molecular Pathology.
Publishing on an annual basis, the volume will be divided into 7
sections: Genetics, Hematopathology, Infectious Disease,
Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led
by Dr. Gregory Tsongalis of Dartmouth University, a team of
experienced pathologists from institutions across the country
oversee annual topic and expert author selection. Topics discussed
in this volume include, but are not limited to: whole genome
sequencing in critically ill children, bioinformatics in clinical
genomic sequencing, comprehensive monitoring of patients with
chronic myeloid leukemia, genetic biomarkers in the biology and
clinical workup of chronic lymphocytic leukemia, metagenomics in
infectious disease, point of care molecular testing,
pharmacogenomics in oncology, clinical uses of panel testing vs.
single gene testing, large scale data sharing initiatives in
genomic oncology, clinical NGS assays for solid tumors emerging
concepts in liquid biopsy the cell line and tissue
misidentification problem, and cell line detective work.
Diagnostic Molecular Pathology: A Guide to Applied Molecular
Testing is organized around disease types (genetic disease,
infectious disease, neoplastic disease, among others). In each
section, the authors provide background on disease mechanisms and
describe how laboratory testing is built on knowledge of these
mechanisms. Sections are dedicated to general methodologies
employed in testing (to convey the concepts reflected in the
methods), and specific description of how these methods can be
applied and are applied to specific diseases are described. The
book does not present molecular methods in isolation, but considers
how other evidence (symptoms, radiology or other imaging, or other
clinical tests) is used to guide the selection of molecular tests
or how these other data are used in conjunction with molecular
tests to make diagnoses (or otherwise contribute to clinical
workup). In addition, final chapters look to the future (new
technologies, new approaches) of applied molecular pathology and
how discovery-based research will yield new and useful biomarkers
and tests. Diagnostic Molecular Pathology: A Guide to Applied
Molecular Testing contains exercises to test readers on their
understanding of how molecular diagnostic tests are utilized and
the value of the information that can be obtained in the context of
the patient workup. Readers are directed to an ancillary website
that contains supplementary materials in the form of exercises
where decision trees can be employed to simulate actual clinical
decisions.
Essential Concepts in Molecular Pathology, Second Edition, offers
an introduction to molecular genetics and the "molecular" aspects
of human disease. The book illustrates how pathologists harness
their understanding of these entities to develop new diagnostics
and treatments for various human diseases. This new edition offers
pathology, genetics residents, and molecular pathology fellows an
advanced understanding of the molecular mechanisms of disease that
goes beyond what they learned in medical and graduate school. By
bridging molecular concepts of pathogenesis to the clinical
expression of disease in cell, tissue and organ, this fully
updated, introductory reference provides the background necessary
for an understanding of today's advances in pathology and medicine.
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, Molecular Pathology, Second Edition stands out as the
most comprehensive textbook where molecular mechanisms represent
the focus. It is uniquely concerned with the molecular basis of
major human diseases and disease processes, presented in the
context of traditional pathology, with implications for
translational molecular medicine. The Second Edition of Molecular
Pathology has been thoroughly updated to reflect seven years of
exponential changes in the fields of genetics, molecular, and cell
biology which molecular pathology translates in the practice of
molecular medicine. The textbook is intended to serve as a
multi-use textbook that would be appropriate as a classroom
teaching tool for biomedical graduate students, medical students,
allied health students, and others (such as advanced
undergraduates). Further, this textbook will be valuable for
pathology residents and other postdoctoral fellows that desire to
advance their understanding of molecular mechanisms of disease
beyond what they learned in medical/graduate school. In addition,
this textbook is useful as a reference book for practicing basic
scientists and physician scientists that perform disease-related
basic science and translational research, who require a ready
information resource on the molecular basis of various human
diseases and disease states.
This book covers the concepts of molecular medicine and
personalized medicine. Subsequent chapters cover the topics of
genomics, transcriptomics, epigenomics, and proteomics, as the
tools of molecular pathology and foundations of molecular medicine.
These chapters are followed by a series of chapters that provide
overviews of molecular medicine as applied broadly to neoplastic,
genetic, and infectious diseases, as well as a chapter on molecular
diagnostics. The volume concludes with a chapter that delves into
the promise of molecular medicine in the personalized treatment of
patients with complex diseases, along with a discussion of the
challenges and obstacles to personalized patient care. The
Molecular Basis of Human Cancer, Second Edition, is a valuable
resource for oncologists, researchers, and all medical
professionals who work with cancer.
One of the exciting aspects of being involved in the field of
molecular biology is the ever-accelerating rate of progress, both
in the development of new methodologies and the practical
applications of these methodologies. This popular textbook has been
completely revised and updated to provide a comprehensive overview
and to reflect key developments in this rapidly expanding area.
Chapters on the impact of molecular biology in the development of
biotechnology have been fully updated and include the applications
of molecular biology in the areas of diagnostics, biosensors and
biomarkers, therapeutics, agricultural biotechnology and vaccines.
The first six chapters deal with the technology used in current
molecular biology and biotechnology. These primarily deal with core
nucleic acid techniques, genomics, proteomics and recombinant
protein production. Further chapters address major advances in the
applications of molecular biotechnology. By presenting information
in an easily assimilated form, this book makes an ideal
undergraduate text. Molecular Biology and Biotechnology 5th Edition
will be of particular interest to students of biology and
chemistry, as well as to postgraduates and other scientific workers
who need a sound introduction to this ever rapidly advancing and
expanding area.
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