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Male Reproductive Cancers
Knowledge about cancer genetics is rapidly expanding, and has implications for all aspects of cancer research and treatment, including molecular causation, diagnosis, prevention, screening, and treatment. Additionally, while cancer genetics has traditionally focused on mutational events that have their primary effect within the cancer cell, recently the focus has widened, with evidence of the importance of epigenetic events and of cellular interactions in cancer development. The role of common genetic variation in determining the range of individual susceptibility within the population is increasingly recognized, and is now being widely addressed using information from the Human Genome Proje...
Building Genetic Medicine
A comparative study of genetic testing for breast and ovarian cancer in the United States and Britain that shows the importance of national context in the development and use of science and technology even in an era of globalization. In Building Genetic Medicine, Shobita Parthasarathy shows how, even in an era of globalization, national context is playing an important role in the development and use of genetic technologies. Focusing on the development and deployment of genetic testing for breast and ovarian cancer (known as BRCA testing) in the United States and Britain, Parthasarathy develops a comparative analysis framework in order to investigate how national “toolkits” shape both reg...
Race in Contemporary Medicine
This collection of articles addresses contemporary debates regarding race in medicine today, answering questions from a bio-medical and social perspective.
The $1,000 Genome
In 2000, President Bill Clinton signaled the completion of the Human Genome Project at a cost in excess of $2 billion. A decade later, the price for any of us to order our own personal genome sequence--a comprehensive map of the 3 billion letters in our DNA--is rapidly and inevitably dropping to just $1,000. Dozens of men and women--scientists, entrepreneurs, celebrities, and patients--have already been sequenced, pioneers in a bold new era of personalized genomic medicine. The $1,000 genome has long been considered the tipping point that would open the floodgates to this revolution. Do you have gene variants associated with Alzheimer's or diabetes, heart disease or cancer? Which drugs should you consider taking for various diseases, and at what dosage? In the years to come, doctors will likely be able to tackle all of these questions--and many more--by using a computer in their offices to call up your unique genome sequence, which will become as much a part of your medical record as your blood pressure.
Tabula Raza
Duana Fullwiley has penned an intimate chronicle of laboratory life in the genomic age. She presents many of the influential scientists at the forefront of genetics who have redefined how we practice medicine and law and understand ancestry in an era of big data and waning privacy. Exceedingly relatable and human, the scientists in these pages often struggle for visibility, teeter on the tightrope of inclusion, and work tirelessly to imprint the future. As they actively imagine a more equal and just world, they often find themselves ensnared in reproducing timeworn conceits of race and racism that can seed the same health disparities they hope to resolve. Nothing dynamic can live for long as a blank slate, an innocent tabula rasa. But how the blank slate of the once-raceless human genome became one of racial differences, in various forms of what Fullwiley calls the tabula raza, has a very specific and familiar history—one that has cycled through the ages in unexpected ways.
GWAS of Thyroid Stimulating Hormone Highlights Pleiotropic Effects and Inverse Association with Thyroid Cancer
Abstract: Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to 119,715 individuals and identify 74 genome-wide significant loci for TSH, of which 28 are previously unreported. Functional experiments show that the thyroglobulin protein-altering variants P118L and G67S impact thyroglobulin secretion. Phenome-wide association analysis in the UK Biobank demonstrates the pleiotropic effects of TSH-associated variants and a polygenic score for higher TSH levels is associated with a reduced risk of thyroid cancer in the UK Biobank and three other independent studies. Two-sample Mendelian randomization using TSH index variants as instrumental variables suggests a protective effect of higher TSH levels (indicating lower thyroid function) on risk of thyroid cancer and goiter. Our findings highlight the pleiotropic effects of TSH-associated variants on thyroid function and growth of malignant and benign thyroid tumors
Yearbook of Pediatric Endocrinology 2009
The body of knowledge in most medical specialties is rapidly expanding, making it virtually impossible to follow all advances in clinical and basic sciences that are relevant to a given field. This is particularly true in pediatric endocrinology, at the cross-road of pediatrics, endocrinology, development and genetics. Providing abstracts of articles that report the year's breakthrough developments in the basic sciences and evidence-based new knowledge in clinical research and clinical practice that are relevant to the field, the 'Yearbook of Pediatric Endocrinology 2009' keeps busy clinicians and scientists, pediatric endocrinologists, and also pediatricians and endocrinologists informed on...
Cancer Research
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