Your Genes, Your Health

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.

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.

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 28. Hypertension 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 Index