Apr 052017
 

Translational Bioinformatics and Its Application (Translational Medicine Research)


This book offers a detailed overview of translational bioinformatics together with real-case applications. Translational bioinformatics integrates the areas of basic bioinformatics, clinical informatics, statistical genetics and informatics in order to further our understanding of the molecular basis of diseases. By analyzing voluminous amounts of molecular and clinical data, it also provides clinical information, which can then be applied. Filling the gap between clinic research and informatics, the book is a valuable resource for human geneticists, clinicians, health educators and policy makers, as well as graduate students majoring in biology, biostatistics, and bioinformatics.

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Apr 052017
 

The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids–and the Kids We Have


Features: Scientific American
By (author): Bonnie Rochman

A sharp-eyed exploration of the promise and peril of having children in an age of genetic tests and interventions

Is screening for disease in an embryo a humane form of family planning or a slippery slope toward eugenics? Should doctors tell you that your infant daughter is genetically predisposed to breast cancer? If tests revealed that your toddler has a genetic mutation whose significance isn’t clear, would you want to know?

In The Gene Machine, the award-winning journalist Bonnie Rochman deftly explores these hot-button questions, guiding us through the new frontier of gene technology and how it is transforming medicine, bioethics, health care, and the factors that shape a family. Rochman tells the stories of scientists working to unlock the secrets of the human genome; genetic counselors and spiritual advisers guiding mothers and fathers through life-changing choices; and, of course, parents (including Rochman herself) grappling with revelations that are sometimes joyous, sometimes heartbreaking, but always profound. She navigates the dizzying and constantly expanding array of prenatal and postnatal tests, from carrier screening to genome sequencing, while considering how access to more tests is altering perceptions of disability and changing the conversation about what sort of life is worth living and who draws the line. Along the way, she highlights the most urgent ethical quandary: Is this technology a triumph of modern medicine or a Pandora’s box of possibilities?

Propelled by human narratives and meticulously reported, The Gene Machine is both a scientific road map and a meditation on our power to shape the future. It is a book that gets to the very core of what it means to be human.

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Apr 032017
 

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis


By (author): Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk

This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. 

The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. 

This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.

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Apr 012017
 

Squamous cell Carcinoma: Molecular Therapeutic Targets


This edited volume is about novel targeted therapies for the treatment of advanced neoplasms of the head and neck (HNSCC) with particular reference to oral squamous cell carcinomas and covers specific fields of cancer genetics and genomics for personalized medicine.

The landmark studies from the HNSCC Cancer Genome Anatomy (TCGA) and the cancer Genome Atlas 2015 have revealed the multiplicity and diversity of genetic alterations in HNSCC. This remarkable body of information has elucidated novel druggable targets (eg. EGFR, mTOR, p53, survivin andaberrant microRNA) for therapeutic interventions in head and neck cancer.

Readers will discover the importance of the biology and pathology of squamous cell carcinomas, the role of cancer stem cells and other factors that contribute to resistance to curative therapies such as hypoxia. We present an in-depth analysis of the HNSCC oncogenome describing the distinct molecular alterations in squamous cell carcinomas, which participate in specific molecular pathways whose dysregulation may contribute to most HNSCC cases. Final chapters of the book elucidate how these important cancer-driving molecular events and molecular pathways could be targeted to treat head and neck cancers and  their therapeutic applications for targeted therapies based on clinical trials reported worldwide.

This book is aimed at a broad audience, including scientists, physicians, surgeons, and post graduate students engaged in oncology and provide the readers with an up-to-date, interdisciplinary knowledge and tools to better understand the evolving areas of targeted gene therapy and the key concept of personalized medicine in head and neck cancer.

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Apr 012017
 

Molecular Oncology: Underlying Mechanisms and Translational Advancements


Cancer is a multifaceted and genomically complex disease and data obtained through high throughput technologies has provided near complete resolution of the landscape of how genomic, genetic and epigenetic mutations in cancerous cells effectively influence homeostasis of signaling networks within these cells, between cancerous cells, tumor microenvironment and at the organ level. Increasingly sophisticated information has helped us in developing a better understanding of the underlying mechanisms of cancer, and it is now known that intra-tumor genetic heterogeneity, cellular plasticity, dysregulation of spatio-temporally controlled signaling cascades, and loss of apoptosis are contributory in cancer development, progression and the development of resistance against different therapeutics. It is becoming progressively more understandable that earlier detection of pre-existing or emerging resistance against different therapeutics may prove to be helpful in personalizing the use of targeted cancer therapy. 
Despite the fact that there is a continuously increasing list of books, being guest edited by researchers, books on the subject are often composed of invited reviews without proper sequence and continuity and designed for a particular readership. This book progressively shifts and guides the readers from basic underlying mechanisms to translational approaches to treat cancer.
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Apr 012017
 

WHO Classification of Tumours of the Central Nervous System (IARC WHO Classification of Tumours)


By (author): International Agency for Research on Cancer

WHO Classification of Tumours of the Central Nervous System is the revised fourth edition of the WHO series on histological and genetic typing of human tumors. This authoritative, concise reference book provides an international standard for oncologists and pathologists and will serve as an indispensable guide for use in the design of studies monitoring response to therapy and clinical outcome.

Diagnostic criteria, pathological features, and associated genetic alterations are described in a disease-oriented manner. Sections on all recognized neoplasms and their variants include new ICD-O codes, epidemiology, clinical features, macroscopy, pathology, genetics, and prognosis and predictive factors. The book, prepared by 122 authors from 19 countries, contains more than 800 color images and tables, and more than 2800 references.

This book is in the series commonly referred to as the “Blue Book” series.

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Mar 262017
 

Mercies in Disguise: A Story of Hope, a Family’s Genetic Destiny, and the Science That Rescued Them


Features: Mercies in Disguise A Story of Hope a Family s Genetic Destiny and the Science That Rescued Them
By (author): Gina Kolata

“…a moving, suspenseful page-turner that’s likely to become a classic of medical storytelling.” ?The Washington Post

New York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw.

The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested?at least, not now. But she had to find out.

If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible?

In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution?not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma?fertility specialists had created a way to spare the children through an expensive process.

A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman?Amanda Baxley?who faced the future head on, determined to find a way to disrupt her family’s destiny.

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Mar 222017
 

Bone Morphogenetic Proteins: Systems Biology Regulators (Progress in Inflammation Research)


This book focuses on the salient features of the biology of Bone Morphogenetic Proteins and the advances in our understanding of their structure and function and of downstream signaling, as well as their governance in systems biology from bone and dentin to kidney, cancer, diabetes, iron homeostasis and angiogenesis, including rare musculoskeletal disorders. BMPs, also referred to as growth and differentiation factors, are members of the TGF-beta superfamily and are highly conserved from fruit flies to mammals and are responsible for the formation of practically every organ during embryo development and involved in adult tissue injury and repair. BMPs establish their extracellular gradient by interacting with their respective antagonists and regulate their function through SMAD-dependent down-stream signaling effector genes.

This volume is aimed at scientists and professionals dealing with metabolic disorders, nutrition, systems biology diseases, rare musculoskeletal conditions, and disorders related to iron metabolism, including anemia of chronic disease, hereditary hemochromatosis and beta thalassemia.

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Feb 032017
 

Preimplantation Genetic Diagnosis in Clinical Practice


Features: Preimplantation Genetic Diagnosis in Clinical Practice

This book offers a comprehensive, coherent, up-to-date and practical guide to PGD, from procedures to new clinical and laboratory practice to perspectives on ethical and social issues. Useful both in practice and for answering patient enquiries.
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Jan 122017
 

Molecular Genetics of Endometrial Carcinoma (Advances in Experimental Medicine and Biology)


Features: Molecular Genetics of Endometrial Carcinoma Advances in Experimental Medicine and Biology

This comprehensive text provides a much-needed review of a disease that is currently garnering the interest of molecular biologists, translational scientists, and clinicians. The volume includes emerging developments in the molecular genetics of endometrial carcinoma. In addition to covering the basic genetics of endometrial carcinoma, chapters also cover a wide range of signaling pathways implicated in endometrial carcinoma. A section of the book includes a number of genetically engineered mouse models, which contribute to understanding the role of various genetic alterations in the development and progression of endometrial carcinoma.  These models also provide preclinical models for developing effective targeted therapeutic approaches. Endometrial carcinoma is the most common malignancy of the female genital tract in the United States and the number of cases continues to increase around the world. This book is a meant to serve as a resource for a wide range of scientists, from molecular geneticists to signal transduction biologists, as well as to both clinicians and scientists interested in developing targeted therapeutic approaches for women with endometrial carcinoma.
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