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Your Genes, Your Health: A Critical Family Guide That Could Save Your Lifeby Aubrey Milunsky
Synopses & Reviews
New advances in genetics have dramatically expanded opportunities to avoid, prevent, diagnose and even treat a wide range of genetic disorders. Now, more than ever before, families need to be alert about the implications and applications of these new developments and discoveries. Few are aware that apparently quite different disorders in their family may be caused by the same gene mutation. Even fewer know that there are some 7,000 rare genetic diseases with about 1 in 12 of us being affected by one of these inherited or sporadically occurring genetic disorders.
In non-technical language, the author has provided a valuable guide to why and what you should know about disorders of genes and chromosomes and the many available options. The histories of families discussed and seen in consultation by the author were selected for the, often poignant, lessons they teach about the lifesaving importance of knowing one's family history and ethnic origin.
The ongoing cascade of new DNA tests already enable a host of evaluations that establish precise diagnosis, detection of mutation carriers, enable prenatal or preimplantation diagnosis, determine sensitivity to certain medications, recognize genetic susceptibility and accurately predict a genetic disorder where prevention or intervention is possible. A host of common genetic disorders that occur in families described in this book include cancer, diseases of the heart and blood vessels, strokes, disorders of the brain and nervous system, disorders related to ethnicity, autism, mental illness, birth defects, mental retardation, bleeding and clotting disorders, as well as the all too common diabetes, obesity and hypertension, as well as many other conditions.
So often when facing serious to grim test results, many families have expressed the sentiment "If we had only known." Not infrequently, this sadness has reflected the lack of family communication and the common tendency to delay seeking genetic evaluation and counseling. Indeed, the vast majority of people in all countries have not consulted a clinical geneticist when the need was evident.
The message of this book is clear and the guidance authoritative and explicit. Know your family history, be cognizant of your ethnic origins, seek appropriate consultations and opt for meaningful genetic tests. By knowing your genes, you will help secure your health, and even save your life and the lives of those you love.
"From Tay-Sachs to hypertension, 'very aspect of health and all disease is controlled, regulated, modulated, or influenced by your genes, .... the results of their dysfunction can frequently be remedied.' A professor and doctor of pediatrics, genetics, and internal medicine, Milunsky (Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment) provides a thorough manual invaluable to the layperson trying to determine if a condition is inheritable and how to prevent its passing to future generations. In language that clearly and concisely communicates details of medical treatments and genetics, the reader is instructed in the biology of genetic traits, how mutations are diagnosed, and how to assemble a family health history. From there, Milunsky moves on to a complete catalog of genetic disorders, including those caused by missing chromosomes, mutations of a particular gene, and those that increase cancer risk. Readers will appreciate anecdotes from his years of clinical practice that illustrate the impact of genetic diseases on individuals, families, and society. (Oct.)" Publishers Weekly Copyright PWxyz, LLC. All rights reserved.
New advances in genetics have dramatically expanded our ability to avoid, prevent, diagnose, and treat a wide range of disorders. Now, more than ever, families need to know about these new discoveries, especially as there are some 7,000 rare genetic diseases that afflict about 1 in 12 of us. In Your Genes, Your Health, Aubrey Milunsky provides an invaluable and authoritative guide to what you should know about your genes. Illustrated with poignant family histories that underscore the lifesaving importance of knowing one's family medical history and ethnic origin, the book highlights the importance of recognizing seemingly unrelated disorders in a family as due to the same gene mutation and it outlines the key genetic tests needed for diagnosis, detection of carriers, and prenatal diagnosis. Many genetic disorders are discussed including cancer, heart disease, autism, mental illness, birth defects, neurologic disorders, diabetes, obesity and much more. The message of this book is clear--know your family history, be cognizant of your ethnic origins, seek appropriate consultations, and opt for meaningful genetic tests. Recognition of your risk(s) enables prompt preemptive action. By knowing your genes, you may save your life and the lives of those you love.
About the Author
Aubrey Milunsky, MD, D.S.c. is Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, and Pathology, and the Director of the Center for Human Genetics, at Boston University School of Medicine.
Table of Contents
1. Why and What You Should Know
2. Too Many or Too Few Chromosomes
3. X's and Y's: The Sex Chromosomes
4. Chromosome Rearrangements
5. Blueprints: You and Your Genes
6. How Genes are Transmitted
7. Prenatal Diagnosis
8. When Good Cells Go Wrong
9. Matters of the Heart
10. Consequences of a Failure to Diagnose
11. Genes Gone Missing
12. Earlier and More Severe Genetic Disorders
13. The Determination to Have a Healthy Child
14. Irrevocability and Acceptance
15. Ancestral Genetic Burdens
16. Puzzling Fevers
17. Bleeding and Clotting
18. Blood Vessels that Burst
19. Connectivity: Abnormal Brain Connections
20. Skin: A Mirror to the Brain
21. Genes with Signatures
22. Maternal Inheritance and Inevitability
23. Harmful Maternal Effects on the Fetus
24. Patterns of Anomalies
25. Treatment Options
26. Sugar and Metals
27. Obesity: A Weighty Burden
Frequently Asked Questions
Appendix 1: Cancer Family Syndromes for which Preimplantation Genetic Diagnoses have been Performed
Appendix 2: Genetic Disorders with Germline Mosacism
Appendix 3: Disorders with Dynamic Mutations
Appendix 4: Genetic Disorders that show Anticipation
Appendix 5: Guidelines for Presymptomatic or Predictive Testing
Appendix 6: Genetic Disorders in which Dilatation of the Aorta may Occur
Appendix 7: Genetic Disorders with Imprinting
Appendix 8: Genetic Resources and Support Organizations
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