Chromosome identification: Medicine and Natural Sciences

Chromosome identification: Medicine and Natural Sciences
Author: Torbjoern Caspersson
Publisher: Elsevier
Total Pages: 357
Release: 1973-01-01
Genre: Science
ISBN: 0323162673

Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
Author: National Research Council
Publisher: National Academies Press
Total Pages: 128
Release: 1988-01-01
Genre: Science
ISBN: 0309038405

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment

The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment
Author: Jessica Wapner
Publisher: The Experiment, LLC
Total Pages: 345
Release: 2014-04-08
Genre: Health & Fitness
ISBN: 1615191658

One of The Wall Street Journal’s 10 Best Nonfiction Books of the Year Philadelphia, 1959: A scientist scrutinizing a single human cell under a microscope detects a missing piece of DNA. That scientist, David Hungerford, had no way of knowing that he had stumbled upon the starting point of modern cancer research— the Philadelphia chromosome. It would take doctors and researchers around the world more than three decades to unravel the implications of this landmark discovery. In 1990, the Philadelphia chromosome was recognized as the sole cause of a deadly blood cancer, chronic myeloid leukemia, or CML. Cancer research would never be the same. Science journalist Jessica Wapner reconstructs more than forty years of crucial breakthroughs, clearly explains the science behind them, and pays tribute—with extensive original reporting, including more than thirty-five interviews—to the dozens of researchers, doctors, and patients with a direct role in this inspirational story. Their curiosity and determination would ultimately lead to a lifesaving treatment unlike anything before it. The Philadelphia Chromosome chronicles the remarkable change of fortune for the more than 70,000 people worldwide who are diagnosed with CML each year. It is a celebration of a rare triumph in the battle against cancer and a blueprint for future research, as doctors and scientists race to uncover and treat the genetic roots of a wide range of cancers.

Exploring the Biological Contributions to Human Health

Exploring the Biological Contributions to Human Health
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 287
Release: 2001-07-02
Genre: Medical
ISBN: 0309132975

It's obvious why only men develop prostate cancer and why only women get ovarian cancer. But it is not obvious why women are more likely to recover language ability after a stroke than men or why women are more apt to develop autoimmune diseases such as lupus. Sex differences in health throughout the lifespan have been documented. Exploring the Biological Contributions to Human Health begins to snap the pieces of the puzzle into place so that this knowledge can be used to improve health for both sexes. From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of self as male or female in society). Exploring the Biological Contributions to Human Health discusses basic biochemical differences in the cells of males and females and health variability between the sexes from conception throughout life. The book identifies key research needs and opportunities and addresses barriers to research. Exploring the Biological Contributions to Human Health will be important to health policy makers, basic, applied, and clinical researchers, educators, providers, and journalists-while being very accessible to interested lay readers.

Clinical Precision Medicine

Clinical Precision Medicine
Author: Judy S. Crabtree
Publisher: Academic Press
Total Pages: 114
Release: 2019-11-15
Genre: Medical
ISBN: 0128204028

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. - Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics - Features chapter contributions from leaders in the field - Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Atlas of Human Chromosome Heteromorphisms

Atlas of Human Chromosome Heteromorphisms
Author: H.E. Wyandt
Publisher: Springer Science & Business Media
Total Pages: 314
Release: 2013-03-09
Genre: Medical
ISBN: 9401704333

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).

Evolution of Translational Omics

Evolution of Translational Omics
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 354
Release: 2012-09-13
Genre: Science
ISBN: 0309224187

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Human Genes and Genomes

Human Genes and Genomes
Author: Leon E. Rosenberg
Publisher: Academic Press
Total Pages: 447
Release: 2012-05-21
Genre: Science
ISBN: 0123852137

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor's office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. - Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease - Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more - Explores ethical, legal, regulatory and economic aspects of genomics in medicine - Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics

Evolutionary Biology

Evolutionary Biology
Author: Max Hecht
Publisher: Springer Science & Business Media
Total Pages: 470
Release: 2012-12-06
Genre: Science
ISBN: 1461569508

The ninth volume of Evolutionary Biology represents a turning point in the history of this series. The death of Theodosius Dobzhansky was a blow to the whole field of evolutionary biology in general, and to his friends and colleagues, including the other two Editors. He played a central role in the selection of areas that were "ripe" for review papers, and his circle of friends, colleagues, and students was so wide that he could always find exactly the most appropriate author and then convince him that he should prepare the paper. Evolutionary Biology was founded in 1966 and the first volume published in 1967. Ten years-and several vicissitudes-later, it seems advisable to restate the original concept of this serial publication. The Preface of Volume 1 says, simply, We have conceived this serial as a forum in which critical reviews and com mentaries, as well as original papers and even controversial views, can be brought together to cover a broad range of interest with provocative discussion. Evolutionary Biology will provide research workers and students with an excep tional opportunity to read expert presentations of developments in areas of their field in which they are not specialists, and as specialists they will see how others assess these developments. An important feature is that contributions are not necessarily limited in length, subject, and other restrictions that usually prevail in basic research journals.