Category: Genetics

Androgen-Responsive Genes in Prostate Cancer: Regulation, Function and Clinical Applications

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About the Author

Molecular Genetics of Dysregulated pH Homeostasis

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Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological function at every level, including protein folding, enzymatic activities and proliferation, and cell death. Therefore, maintaining the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in scientific literature and in medical textbooks.  However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events, and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases including cancer, stroke, myocardial infarction, diabetes, and renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and respond to acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanisms and cellular responses to pH alterations in both physiological (taste, pain) and pathological (ischemia and cancers) settings. Furthermore, the authors present a broad spectrum of investigative approaches to cellular response to acidosis in a wide variety of human diseases.

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RNA and DNA Diagnostics (RNA Technologies)

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The aim of molecular diagnostics is preferentially to detect a developing disease before any symptoms appear. There has been a significant increase, fueled by technologies from the human genome project, in the availability of nucleic acid sequence information for all living organisms including bacteria and viruses. When combined with a different type of instrumentation applied, the resulting diagnostics is specific and sensitive. Nucleic acid-based medical diagnosis detects specific DNAs or RNAs from the infecting organism or virus and a specific gene or the expression of a gene associated with a disease. Nucleic acid approaches also stimulate a basic science by opening lines of inquiry that will lead to greater understanding of the molecules at the center of life. One can follow Richard Feynman’s famous statement “What I cannot create, I do not understand.”

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Medical Genetics 1st Edition

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine

Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Geneticsis written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as:

  • The structure and function of genes
  • Cytogenetics
  • Mendelian inheritance
  • Mutations
  • Genetic testing and screening
  • Genetic therapies
  • Disorders of organelles
  • Key genetic diseases, disorders, and syndromes

Each chapter of Medical Genetics is logically organized into three sections:

  1. Background and Systems – Includes the basic genetic principles needed to understand the medical application
  2. Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE
  3. Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care

Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

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Human Fetal Tissue Transplantation

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Over the past decade there have been major advances in the field of regenerative medicine with the promise to bring to reality, cures for debilitating diseases such as diabetes, heart failure, and Parkinson’s disease. Cellular products from a variety of sources are being evaluated for their ability to replace damaged tissue.

Fetal tissues consist of stem cells and progenitor cells which have undergone initial commitment with varying states of differentiation. Stem cells from fetal tissues may also have a greater proliferative potential than their adult counterparts. In addition, fetal derived stem and progenitor cells are immunologically naive and some sources of fetal cells, eg cord blood, have been shown to be capable of crossing greater HLA mismatching resulting in less rejection and decreased immune mediated toxicities. Given the increasing focus on HES and advances in our basic knowledge of regenerative medicine it is an appropriate time to review the biology and use of fetal tissues.

Human Fetal Tissue Transplantation is a timely publication that provides details of many aspects of the potential use of fetal tissues for therapeutic applications. As many tissues are wasted on a daily basis it appropriate to raise discussion on how to maximize access to discard tissue and at the same time engage in discussion of the ethics associated with fetal tissue procurement and clinical use.

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Sickle Cell Disease and Hematopoietic Stem Cell Transplantation 1st ed. 2018 Edition

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This book provides a comprehensive, state-of-the art review of hematopoietic stem cell transplantation (HSCT) for sickle cell disease (SCD).  The book reviews new data about risk prediction for severe SCD, outlines the unique challenges of  HSCT for patients with SCD, profiles the supportive care guidelines for patients who are undergoing HSCT, highlights our current understanding of the best transfusion support for SCD patients prior to, during and after HSCT, and provides new perspectives about the ethics of HSCT for pediatric patients with SCD. Published in the last few years, several landmark phase III trials that utilize matched unrelated and haploidentical donors for HSCT in SCD patients are also placed in context with respect to current management.
Written by experts in the field, Sickle Cell Disease and Hematopoietic Stem Cell Transplantation is a valuable resource for physicians and researchers dealing with and interested in this challenging, yet exciting, curative therapy for sickle cell disease, that will help guide patient management and stimulate investigative efforts.

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Genetics: A Conceptual Approach, 4th Edition 4th Edition

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Since its inception, Genetics: A Conceptual Approach has been known for its engaging writing style and its focus on the key concepts in genetics. By presenting key concepts clearly and by helping students make connections between them, Pierce enables students to study the big picture of genetics. The fourth edition includes new coverage on epigenetics, the first synthetic organism, our relationship to Neanderthals, microRNAs, and many other updates and recent discoveries. The popular Chapter-Opening Stories engage students with interesting real-life examples and have been updated. Almost half the stories are new, including new stories on “The Strange Case of Platypus Sex”, “Death Cap Poisoning”, “Helping the Blind to See” and more. The end-of-chapter problems have also been revised and updated, giving students great new exercises to test their understanding. The text is supported by a companion website (www.whfreeman.com/pierce4e) which provides helpful problem-solving videos and interactive animated tutorials and podcasts on key concepts and processes.

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Genome Editing 1st ed. 2016 Edition

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This timely volume explores the use of CRISPR-Cas9 for genome editing, presenting cutting-edge techniques and their applications in treatment of disease. The chapters describe latest methods such as use of targetable nucleases, investigation of the non-coding genome, mouse genome editing, increasing of knock-in efficiency in mouse zygotes, and generation of reporter stem cells; the text contextualizes these methods in treatment of cardiovascular disease, diabetes mellitus, retinitis pigmentosa, and others. The final chapters round out the book with a discussion of controversies and future directions.
Genome Editing is an essential, of-the-moment contribution to this rapidly growing field. Drawing from a wealth of international perspectives, it presents novel techniques and applications for the engineering of the human genome. This book is essential reading for all clinicians and researchers in stem cells, regenerative medicine, genomics, biochemical and biomedical engineering- especially those interested in learning more about genome editing and applying it in a targeted, specific way.

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Cell Therapy: Current Status and Future Directions (Molecular and Translational Medicine) 1st ed. 2017 Edition

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This volume provides a comprehensive, state-of-the art review of the field of cell therapy.  The volume begins with an overview of the breadth of the field and then turns to overviews of imaging technologies that can aid in both safety and efficacy evaluations. The book then turns to numerous contributions detailing the rapidly growing field of stem cell therapies. These sections cover our understanding of the natural roles of stem cells in biology and human disease and then touches on several of the more prominent areas where stem cells are moving rapidly into clinical evaluation including neurodegenerative diseases, muscular dystrophy, cardiac repair, and diabetes. The volume concludes with contributions from experts in oncology, ophthalmiology, stem cells, 3-D printing, and biomaterials where the convergence of expertise is leading to unprecedented insights into how to minutely control the in vivo fate and function of transplanted and/or endogeneously mobilized cells.  Finally, the book provides insights into the pivotal relationship between academic and industrial partnerships.
This volume is designed to touch on the major areas where the field will make its greatest and most immediate clinical impacts.  This text will provide a useful resource for physicians and researchers interested in the rapidly changing filed of cell therapy.

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Atlas of Genetic Diagnosis and Counseling 3rd ed. 2017 Edition

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Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.

Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use.

Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malform

ation syndromes and better evaluate, counsel, and manage affected patients.

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