Genetic Disease

p53: The Gene That Cracked the Cancer Code reveals the tale of the search for this gene, as well as the excitement of the hunt for new cures - the hype, the lost opportunities, the blind alleys, and the thrilling breakthroughs. As the long-anticipated revolution in cancer treatment tailored to each individual patient's symptoms starts to take off at last, p53 is still at the forefront of the game. This is a timely tale of scientific discovery and advances in our understanding of a disease that still affects more than one in three of us at some point in our lives.

In Sleepyhead, science writer Henry Nicholls uses his own experience with chronic narcolepsy as a gateway to better understanding the cryptic, curious, and relatively uncharted world of sleep disorders. Charming, eye-opening, and deeply humanizing, Sleepyhead will help us all uncover the secrets of a good night's sleep.

You've probably seen it before: a human brain dramatically lit from the side, the camera circling it like a helicopter shot of Stonehenge, and a modulated baritone voice exalting the brain's elegant design in reverent tones... to which this book says: Pure nonsense.

Diagnosed with cystic fibrosis at the age of three, Mallory Smith grew up to be a determined, talented young woman who inspired others even as she privately raged against her illness. Despite the daily challenges of endless medical treatments and a deep understanding that she’d never lead a normal life, Mallory was determined to “Live Happy,” a mantra she followed until her death.

To make this groundbreaking audiobook, Dr. James Lyons-Weiler combed through the past fifty years of published research on autism, exploring subjects such as genetic variation, mechanisms of neurotoxicity of metals and pesticides, and the central and combined roles of each in causing autism.

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.

At the age of 27, Whitney Dafoe was forced to give up his life as a photographer who traveled the world. Bit by bit a mysterious illness stole away the pieces of his life: First, it took the strength of his legs, then his voice, and his ability to eat. The Puzzle Solver follows several years in which he desperately sought answers. Whitney's father, Ron Davis, PhD, a world-class geneticist at Stanford University whose legendary research helped crack the code of DNA, suddenly changed the course of his career in a race against time to cure his son's debilitating condition.

Jamie Tyrone was 49 years old when she learned she had a 91% chance of getting Alzheimer's disease - by accident through genetic testing. She was shocked, but after an initial bout with depression she decided to take action rather than concede defeat. Jamie teamed up with Dr. Marwan Sabbagh, a renowned neurologist, and together they created a resource detailing not just Jamie's experience, but expert medical advice for anyone facing the disease.

Cystic fibrosis is a life-altering genetic disorder, but with the right knowledge and tools, it can be better understood and managed. The Complete Guide to Cystic Fibrosis provides a clear, comprehensive overview of the disease, making it an essential resource for patients, caregivers, and healthcare professionals.

For patients with chronic pain and those who love them, an exploration of the causes of and treatments available for those with hypermobility.

Did you know that about 10,000 years ago humans went through a radical change in lifestyle in what is now called the Agricultural Revolution? While this event propelled humans out of the stone age and into civilization it also ultimately catapulted us into our current way of life and into the chronic disease epidemic we have today. Western medicine sees our epidemic of disease as a problem that needs to be suppressed, but our chronic disease epidemic is really a symptom.

Just 45 years ago, the age of gene modification was born. Researchers could create glow-in-the-dark mice, farmyard animals producing drugs in their milk, and vitamin-enhanced rice that could prevent half a million people going blind every year. But now GM is rapidly being supplanted by a new system called CRISPR or "gene editing". Using this approach, scientists can manipulate the genes of almost any organism with a degree of precision, ease and speed that we could only dream of ten years ago.

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?

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.

2000年代初頭、人間の全遺伝情報=ヒトゲノムがついに解読された。その後まもなく、山中伸弥らがiPS細胞(人工多能性幹細胞)の作製に成功。そして今、ジェニファー・ダウドナらが開発した新技術「CRISPR-Cas9」により、人類は「ゲノム編集」の時代を迎えている。自らの設計図を望み通りに書き換えられるようになったとき、人間の条件はどう変わるのか? 科学と倫理のせめぎ合いを圧倒的なストーリーテリングで描く傑作。

19世紀後半にメンデルが発見した遺伝の法則とダーウィンの進化論が出会い、遺伝学は歩み始めた。そして今、人類はゲノム編集の時代を迎えている。遺伝子が握る人類の運命とは？　ピュリッツァー賞受賞の医学者が自らの家系に潜む精神疾患の悲劇を織り交ぜながら、圧倒的なストーリーテリングで紡ぐ遺伝子全史

"Egoístas, inmortales y viajeras" explora el pasado, la realidad actual y el futuro de una enfermedad que, en términos estrictos, no es una única entidad sino más de doscientas distintas, tantas como tipos celulares construyen los diferentes órganos y tejidos de nuestro cuerpo. Discutiremos en primer lugar el origen del cáncer, una cuestión que hasta una fecha reciente no tuvo una respuesta concreta y de la que hoy podemos decir que es una enfermedad de los genes en el planeta de los genes.

Eine faszinierende Vorstellung: Wie wäre es, wenn sich die biologische Uhr, die in jedem von uns tickt, anhalten ließe – oder sogar ein Stück zurückdrehen? Und das nicht bloß gefühlt, sondern messbar? Dieses Versprechen ist seit Kurzem Realität. Der junge Forschungszweig der Epigenetik hat den Deckel von der Altersuhr gehoben – und in aktuellen Studien nun sogar den Sprung in die praktische Anwendung geschafft. Genau darum geht es in diesem Hörbuch: Was kann ich ganz konkret tun, um meine Altersuhr zurückzudrehen? Um wie viele Monate oder gar Jahre lässt sich der Zeiger zurückstellen?

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.