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Clinical DNA Variant Interpretation
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. - Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume - Features chapter contributions from international leaders in the field - Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
Biotechnology in Our Lives
For a quarter of a century, the Council for Responsible Genetics has provided a unique historical lens into the modern history, science, ethics, and politics of genetic technologies. Since 1983 the Council has had leading scientists, activists, science writers, and public health advocates researching and reporting on a broad spectrum of issues, including genetically engineered foods, biological weapons, genetic privacy and discrimination, reproductive technologies, and human cloning. Biotechnology in Our Lives examines how these issues affect us daily whether we realize it or not. Written for the nonscientist, it looks at the many applications of genetics on the world around us by posing questions such as: What should we know about genetics and childbirth? Can our genes keep us from qualifying for health insurance? Can gene therapy cure cancer? Is behavior genetically determined? Why would the FBI want our genes? Are foreign genes in our food? And much more Ultimately, this definitive book on the subject also encourages us to think about the social, environmental, and moral ramifications of where this technology is taking us.
Screen World
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Genetic Explanations
No longer viewed by scientists as the cell’s fixed master molecule, DNA is a dynamic script that is ad-libbed at each stage of development. What our parents hand down to us is just the beginning. Genetic Explanations urges us to replace our faith in genetic determinism with scientific knowledge about genetic plasticity and epigenetic inheritance.
Sight and Sound
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Liminal
From award-winning playwright and filmmaker Jordan Tannahill comes a masterful and moving novel in the tradition of Ben Lerner’s Leaving the Atocha Station and Sheila Heti’s How Should a Person Be. At 11:04 a.m. on January 21st, 2017, Jordan opens the door to his mother’s bedroom. As his eyes adjust to the half-light, he finds her lying in bed, eyes closed and mouth agape. In that instant he cannot tell whether she is asleep or dead. The sight of his mother's body, caught between these two possibilities, causes Jordan to plunge headlong into the uncertain depths of consciousness itself. From androids to cannibals to sex clubs, an unforgettable personal odyssey emerges, populated by a cast of sublime outsiders in search for the ever-elusive nature of self. Part ontological thriller, part millennial saga, Liminal is a riotous and moving portrait of a young man in volatile times, a generation caught in suspended animation, and a son’s enduring love for his mother.
Biomedical Politics
The abortifacient RU-486 was born in the laboratory, but its history has been shaped by legislators, corporate marketing executives, and protesters on both sides of the abortion debate. This volume explores how society decides what to do when discoveries such as RU-486 raise complex and emotional policy issues. Six case studies with insightful commentary offer a revealing look at the interplay of scientists, interest groups, the U.S. Congress, federal agencies, and the public in determining biomedical public policyâ€"and suggest how decision making might become more reasoned and productive in the future. The studies are fascinating and highly readable accounts of the personal interactions behind the headlines. They cover dideoxyinosine (ddI), RU-486, Medicare coverage for victims of chronic kidney failure, the human genome project, fetal tissue transplantation, and the 1975 Asilomar conference on recombinant DNA.
Hereditary Colorectal Cancer
Colorectal cancer is the third most commonly diagnosed cancer in the US and the third most recently linked to cancer deaths. The national annual incidence rate of colorectal cancer is approximately 148,000+, striking slightly more females than males. The lifetime risk of colorectal cancer is 5-6%, however patients with a familial risk (with two or more first or second degree relatives) make up 20% of the patients. Persons who carry genetic mutations linked to hereditary colorectal cancer are the most likely to develop the disease.
