Genomics: Laboratory Medicine / Pathology

Cases in Laboratory Genetics and Genomics (LGG) Practice by Xia Li, 2023 Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies. This entirely case-based book covers a wide range of genetic cases, from prenatal to postnatal and oncology genetic disorders which lab professionals and geneticists encounter daily in the diagnostic field. Each disorder discussed includes a section on clinical background, clinical indication, tests ordered, laboratory tests performed, test results, results with interpretations, future testing and recommendations, and references. The book will help lab professionals understand and navigate clinical cases using an integrative approach, and thoroughly understand the methodologies and interpretations involved in high complexity genetic testing. Presents clinical cases illustrating the complexity of the genetic abnormalities and successful diagnoses Discusses the technologies best suited to detect DNA mutations, copy number variations, and chromosome or RNA translocations Aids lab professionals in ensuring tests ordered are optimal for clinical indications Prepares trainees for the American Board of Medical Genetics and Genomics (ABMGG) LGG course and exam

Diagnostic Molecular Biology by Chang-Hui Shen, 2019 Diagnostic Molecular Biology describes the fundamentals of molecular biology in a clear, concise manner to aid in the comprehension of this complex subject. Each technique described in this book is explained within its conceptual framework to enhance understanding. The targeted approach covers the principles of molecular biology including the basic knowledge of nucleic acids, proteins, and genomes as well as the basic techniques and instrumentations that are often used in the field of molecular biology with detailed procedures and explanations. This book also covers the applications of the principles and techniques currently employed in the clinical laboratory.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, 7th ed. by Reed E. Pyeritz; Bruce R. Korf; Wayne W. Grody, 2022 Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

Forensic Genetic Approaches for Identification of Human Skeletal Remains by Angie Ambers, 2023 Unidentified human remains (UHRs) are associated with tragic events such as homicides, fires, terrorist attacks, natural disasters, war conflicts, genocide, airline crashes, human rights violations and forced disappearances under oppressive totalitarian regimes. In these situations, extensive damage to soft tissues often precludes the use of such biological samples in the identification process; in contrast, bone material is structurally resilient and is often the most viable (or the only available) types of sample for DNA testing. DNA recovered from bone can be very degraded and may exist in Low quantities due to the effects of human decomposition, environmental exposure, and the passage of time. The complexities of bone microstructure, its nonuniform patterns of diagenesis, and physical rigidity make skeletal remains one of the most challenging sample types for DNA testing. Specialized knowledge, equipment, and training are crucial to maximize success. Forensic Genetic Approaches for the Identification of Human Skeletal Remains: Challenges, Best Practices, and Emerging Technologies provides comprehensive coverage of established bone processing techniques and an overview of available DNA technologies for both contemporary casework and historical/archaeological investigations. The book focuses primarily on the use of DNA for direct identification or kinship analyses, but also highlights interdisciplinary approaches. Among the broad range of topics covered include: Detailed description of proper facilities design, contamination prevention measures, and specialized equipment needed for skeletal remains processing, Guidance on selection of optimal skeletal elements for DNA recovery, cleaning and preparation of bone samples for DNA testing, physical processing techniques (sectioning, pulverization), and DNA extraction methods, Overview of genetic markets available for identification of human skeletal remains, including autosomal short tandem repeats (STRs), Y-chromosome STRs, X-chromosome STRs, mitochondrial DNA (mtDNA), insertion/deletions (INDELS), ancestry-informative single nucleotide polymorphisms (SNPs), phenotype-informative SNPs, and identity-informative SNPs, Discussion of various platforms used to analyze DNA extracted from skeletal remains, including capillary electrophoresis (CE) instrumentation, massively parallel sequencing (MPS) systems, and field-deployable Rapid DNA equipment, Description of available databases and bioinformatic tools for genetic data analysis, including the Mass Fatality identification System (M-FISys), Overview of complementary disciplines often used in concert with genetic data to make positive identifications, including forensic anthropology, odontology, forensic art/sculpting (facial reconstructions), and genetic genealogy

Genomic Applications in Pathology, 2d ed. by George Jabboure Netto; Karen L. Kaul, 2019 The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist's role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.

Molecular Surgical Pathology, 2nd. by Liang Cheng; George J. Netto; John N. Eble, 2023 Since the first edition of this book in 2012, the field of molecular pathology has expanded exponentially. The advent of complete cancer genome sequencing, new diagnostic molecular tests, and biomarkers for targeted therapy and immunotherapy have demonstrated the importance of molecular tools both in patient care and in the practice of pathology. Furthermore, the development of many new molecular technologies has revolutionized the practice of modern pathology. The rapid growth of this field has led to an expansion of knowledge of molecular processes and many more clinical applications in our daily practice of surgical pathology. Thus, this updated second edition of Molecular Surgical Pathology aims to serve as the best available "quick reference" for pathologists, oncologists, geneticists, primary care physicians, and other medical professionals with an interest in this specialty. Molecular Surgical Pathology 2nd Edition focuses on the practical utility of molecular techniques and on molecular biomarkers for the practicing surgical pathologist. The emphasis is on the impact of molecular pathology for tumor classification, diagnosis and differential diagnosis, as well as its implications for patient management and personalized care. This concise overview of molecular surgical pathology and molecular classification of tumors of different organ sites will help not only practicing physicians, but also those in training, including residents and fellows in various disciplines.

Sickle Cell Disease by Mark T. Gladwin; Gregory Kato; Enrico M. Novell, 2021 The most comprehensive, current sickle cell disease resource--for both clinicians and researchers A Doody's Core Title for 2024 & 2023! The first and only resource of its kind, Sickle Cell Disease examines this blood disorder through both clinical and research lenses. More than 80 dedicated experts in the field present their combined clinical knowledge of basic mechanisms, screening, diagnosis, management, and treatment of myriad complex complications of a single base point mutation in the human genome. Case studies with "How I Treat" authoritative insights provide overviews of common and rare complications, and Key Facts offer at-a-glance high-yield information. Filled with clinical photos, illustrations, numerous original diagrams, and with free updates available online, this unmatched resource covers: Mechanisms of sickle cell disease Historic and current research approaches The latest work in gene therapy and editing Guidelines for patient care, diagnosis, unique cases, and therapies Rare and common complications, including domestic and internationally relevant topics Psychosocial and supportive care The newest standards of therapy and future treatment options in children and adults Cardiopulmonary complications A Doody's Core Title for 2022!

Stem Cell Laboratory Techniques by Suresh Kumar Subbiah; Akon Higuchi; Pooi Ling Mok, 2023 Stem Cell Laboratory Techniques: A Guide for Researchers and Students introduces the reader to stem cell culture, handling techniques and versatile applications used by researchers. Sections introduce stem cells, including definitions, types and basic use of stem cells in biomedical science research. The book explains laboratory procedures and techniques ranging from the extraction of stem cells from animals, cell seeding and culture, harvest and maintenance of stem cells, stem cell characterization, accurate recording, quality control, and more. In addition, it guides researchers on topics such as transcriptome analysis, proliferation study analysis, and microphysiological study. Final sections cover useful and recent applications in stem cells, such as gene editing techniques and the preparation of stem cells for in vitro study, as well as stem cell lab design and equipment used in the lab. Lastly, human and animal research ethics are discussed. Introduces readers to the stem cell culture and moves to handling techniques and versatile applications Includes coverage of gene editing techniques for stem cells and stem cells for in vitro study Presents stem cell lab design and equipment used in the lab

Stem Cell Therapy by Hala M. Gabr; Wael Abo El-Kheir, 2022 Stem cell therapy is a fast-growing field of medicine with remarkable prospects in a broad spectrum of diseases. Stem Cell Therapy: Practical Considerations addresses the biological properties of stem cells, mechanisms of action; as well as actual therapeutic decisions such as cell type, source, dose, manipulation, and route of injection. After discussing all this data, the book will illustrate how to travel through the idea from abstract question to laboratory experiment, animal experiment and then on to design a clinical trial throughout all its phases. Written for scientists and postgraduate students in the field of stem cell research and therapy. The authors will cover practical therapeutic issues they have long experienced in the field. Provides readers the basics and clinical practice of stem cell therapy Helps to debunk controversies regarding data fabrication in the field Guides the reader through the mechanisms of the regenerative function of stem cells; as well as the therapeutic decisions such as delivery route, delivery timing, cell doses, and follow-up

Transpathology by Mei Tian, 2024 Transpathology: Molecular Imaging-Based Pathology is a multidisciplinary reference on molecular imaging and pathology. The book is intended for professionals in the fields of molecular imaging, nuclear medicine, radiology, and pathology as well as students and clinical residents. The book describes the importance of non-invasive diagnosis-based precision medicine and presents a detailed description of current transpathological approaches in different aspects essential for the future development of precision medicine. It is molecular imaging approach to experimental research and clinical practice which will drive the field forward and improve research outcomes.