Showing results for "Families" in Genetic

Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type - from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope....

In The Lost Family, journalist Libby Copeland investigates what happens when we embark on a vast social experiment with little understanding of the ramifications. Copeland explores the culture of genealogy buffs, the science of DNA, and the business of companies like Ancestry and 23andMe, all while tracing the story of one woman, her unusual results, and a relentless methodical drive for answers that becomes a thoroughly modern genetic detective story.

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation, but also experience related conditions themselves.

Up, Not Down Syndrome is a love letter and a map. Experience how it feels to think your life is over after having an unlovable baby. At first, the loss seems impossible to overcome. Alex becomes the author's greatest teacher. Love is stronger than fear. Everyone has gifts. The book consists of three parts: the story, the lessons that Alex taught the writer and Alex's perspective. Up, Not Down Syndrome is a promise to stay positive, no matter what: up, not down.

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.

At the age of five Jessica Fein’s daughter Dalia was diagnosed with a rare degenerative disease that would claim her life at 17. Before that moment came, and inspired by Dalia’s own insuppressible zest for life, Fein and her family would discover how to live in the present when the future can’t be fixed. In this heartfelt yet clear-eyed memoir, Fein maps both her journey to becoming an adoptive mom and the roller coaster ride of loving and caring for a terminally ill child, persevering when the simple act of taking a breath can become an act of courage.

Diagnose: Autoimmune Hepatitis. Und das mit Anfang 30. Für Hendrik und Denise Verst bricht 2015 die Welt zusammen. 5 Jahre später braucht Hendrik dringend eine neue Leber. Die 7-köpfige Familie steht vor großer Ungewissheit: Wird Papa rechtzeitig ein passendes Spenderorgan bekommen? Jetzt, 2 Jahre nach der Transplantation, arbeiten Denise aka Mathellaslife und Hendrik aka fitdad_hendrik die Zeit des Bangens und Hoffens in einem gemeinsamen Buch auf - bewegend, ehrlich und aufschlussreich.

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.