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Affichage des articles dont le libellé est Maladies génétiques. Afficher tous les articles
Affichage des articles dont le libellé est Maladies génétiques. Afficher tous les articles

Breath From Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever

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Author(s):Bijal P. Trivedi
Collection:
Publisher:BenBella Books
Year:2020
Langue: English
Pages: pages
Size:4.94 MB
Extension:PDF


[tab] [content title="Summary"] **Recommended by Bill Gates and featured on GatesNotes** "Bijal P. Trivedi masterfully elaborates on the science and business behind the fight against cystic fibrosis, capturing the emotions of families, doctors, and scientists involved in clinical trials. Their 'weeping with joy' as new drugs are approved highlights how cystic fibrosis, once a 'death sentence,' has become a manageable condition for many. This is a rewarding and challenging work." —Publishers Weekly Cystic fibrosis was once a mysterious and deadly disease affecting infants and children. Today, it holds the potential to unlock treatments for a range of genetic diseases—from Alzheimer’s and Parkinson’s to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born displaying unusual symptoms: an insatiable appetite, constant vomiting, and a relentless cough that shook his fragile body and made breathing difficult. After six months of suffering, his salty skin revealed the critical clue: he had cystic fibrosis, an inherited lung disorder that was likely to claim his life before he turned one. The gene and mutation responsible for CF were identified in 1989, sparking hopes for a cure. However, initial treatments failed, and CF was labeled incurable. A pivotal shift occurred when the Cystic Fibrosis Foundation—a grassroots organization founded by parents—joined forces with a budding biotech company, leading to remarkable advancements in drug development and groundbreaking new treatments: pills designed to correct the faulty protein at the heart of this devastating disease. In *Breath from Salt*, science writer Bijal P. Trivedi chronicles the captivating story of cystic fibrosis—from its ancient roots and identification in a hospital’s autopsy room to the CF gene becoming one of the first human disease genes ever discovered, and the revolutionary targeted genetic therapies that now offer hope for a cure. Told through the eyes of patients, families, doctors, scientists, and philanthropists on the front lines, *Breath from Salt* is an extraordinary narrative of unlikely scientific breakthroughs, setbacks, and triumphs, showcasing the indomitable spirit of those who refuse to lose hope. It also provides a fascinating glimpse into the future of genetics and medicine. [/content] [content title="Content"] [/content] [content title="Author(s)"] [/content] [/tab]


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