Genetic Disease

Unblinded is the true story of New Yorker Kevin Coughlin, who became blind at age 36 due to a rare genetic disorder known as Leber's hereditary optic neuropathy. Twenty years later, without medical intervention, Kevin's sight miraculously started to return. He is the only known person in the world who has experienced a spontaneous, non-medically assisted regeneration of the optic nerve. Unblinded follows Kevin's descent into darkness and his unexplained reemergence to sight.

Isabel Stenzel Byrnes and Anabel Stenzel tell of their lifelong struggle to pursue normal lives with cystic fibrosis while grappling with the realization that they will die young. Their story reflects the physical and emotional challenges of a particularly aggressive form of CF and tells how the twins' bicultural heritage - Japanese and German - influenced the way they coped with these challenges.

A coming-of-age memoir for modern times, Bleeder is the incredibly compelling tale of author Shelby Smoak. A hemophiliac, Smoak discovered he had been infected with HIV during a blood transfusion at the start of his college career. This devastating and destabilizing news led Smoak to see his world from an entirely new perspective, one in which life-threatening illness was perpetually just around the corner. Set in the 1990s along the North Carolina coast, Bleeder traces Smoak’s quest for love in a world that feels increasingly dangerous.

For Magda Newman, normal was a goal—she wanted her son Nathaniel to be able to play on the playground, swim at the beach, enjoy the moments of childhood that are often taken for granted. But Nathaniel's severe Treacher Collins syndrome—a craniofacial condition—meant that other concerns came first. Could he eat without the aid of a gastrointestinal tube? Could he hear? Would he ever be able to breathe effortlessly?

When Joselin Linder was in her 20s, her legs started to swell. She thought little of it until her health problems started to compound in ways that baffled her doctors. Diagnosed with extreme liver blockage and dangerous levels of lymph fluid, Joselin turned to the most similar case she could think of - her father's.

On May 10, 1998, biologist Craig Venter, director of the Institute for Genomic Research, announced that he was forming a private company that within three years would unravel the complete genetic code of human life, seven years before the projected finish of the U.S. government's Human Genome Project. Venter hoped that by decoding the genome ahead of schedule, he would speed up the pace of biomedical research and save the lives of thousands of people. He also hoped to become very famous and very rich.

Health-Wealth for You: 11 Steps to Save Big & Live Healthy teaches individuals and families a series of measurable money-saving tactics that will reduce spending on health care. Dr. Luke, a long-time hospital CEO, simplifies 11 proven steps that Americans can take to reduce health-care spending and improve access to doctors and other providers.

In The Decision Tree, Thomas Goetz proposes a new strategy for thinking about health, one that applies cutting-edge technology and sound science to put us at the center of the equation. An individuals Decision Tree begins with genomics, where $400 and a test tube of spit provides a peek at how your DNA influences your health. It taps self-monitoring and collaborative health tools, where iPhone applications and next-generation monitoring gadgets can help individuals successfully change their behavior, once and for all.

Eating disorders are one of the most common but elusive conditions to treat in all of Psychiatry. While current treatments do help some patients with eating disorders, many individuals receive little to no benefit from treatment options, leading to a lifelong struggle with anxiety around eating and body image.

Experts agree on the value of genetic testing when there is a family history of disease, or if the patient has an illness frequently caused by a mutation. Knowing the disease mutation lets family members find out if they have it too and need preventive care. The book explains that doctors can order tests with genetic counseling at relatively low cost and how this will help them prescribe preventive actions, make earlier diagnoses, and get better outcomes.

Over the past 200 years, human life expectancy has approximately doubled. Yet we face soaring worldwide rates of obesity, diabetes, high blood pressure, mental illness, heart disease, and stroke. In his fascinating new book, Dr. Lee Goldman presents a radical explanation: The key protective traits that once ensured our species' survival are now the leading global causes of illness and death.

While modern medicine largely focuses on treating symptoms with prescription drugs, Dr. Gaynor's revolutionary approach goes straight to the most fundamental level: our DNA. Although we cannot change the genes we are born with, we can change how they are expressed over the course of our lives through foods and supplements that prevent and reverse disease. The Gene Therapy Plan presents the science behind these ideas and provides easy-to-follow meal plans and recipes to help put them into practice.

Oncologist and cancer gene hunter Theo Ross delivers the first authoritative go-to for people facing a genetic predisposition for cancer. This book empowers listeners to face their genetic heritage without fear and to make decisions that will keep them and their families healthy.

This audiobook is your roadmap to personal transformation. Learn where you are weak and how to get strong in all areas of life. Immediately start unlocking energy, finding deep, restorative sleep, and boosting mental clarity to upgrade your quality of life. Follow a customized strategy using simple steps to unlock your genetic potential and maximize your results.

In Mercies in Disguise, acclaimed New York Times reporter and best-selling author Gina Kolata tells the story of the Baxleys, an upstanding family in small-town South Carolina. Many of them were doctors, but still, they are struck down by an inscrutable illness. Finally they discover the cause of the disease after a remarkable sequence of providential events. Meanwhile science, progressing for 50 years along a parallel track, handed the Baxleys a question - not a cure but a blood test that would reveal who had the gene for the disease.

Che cos'è la sindrome di Down, perché può nascere un bambino con la trisomia 21, e come aiutarlo a crescere fino a farne una persona autonoma e integrata nel mondo della scuola e del lavoro? Il volume, dedicato a genitori, insegnanti, operatori, ripercorre la storia di vita delle persone con sindrome Down e della loro famiglia.

If you or someone you love has Retinitis Pigmentosa (RP), the genetic condition that is passed down from one generation to the next, please keep reading. RP is not funny as it can be the cause of loss of vision, either in adults or children. Its effect on vision can be slow-moving or it can progress very quickly. The author has been affected for over 30 years and understands the emotional toll this condition can have on the newly diagnosed.

This is my personal story regarding symptoms, diagnosis and treatment for autoimmune hypothyroidism caused by Hashimoto's thyroiditis, Chronic Fatigue Syndrome, Adrenal Fatigue and other metabolic-related conditions that developed co-morbid to my thyroid disease. I also share information regarding my symptom-struggles including emotional aspects and about my difficulties in finding a doctor experienced in treating thyroid disease with related conditions attached to it.