“Elaborating on the science as well as the business behind the fight against cystic fibrosis, Trivedi captures the emotions of the families, doctors, and scientists involved in the clinical trials and their ‘weeping with joy’ as new drugs are approved, and shows how cystic fibrosis, once a ‘death sentence,’ became, for many, a manageable condition. This is a rewarding and challenging work.”
Cystic fibrosis was once a mysterious death sentence. Now, it could be the key to healing millions with genetic diseases of every type.
In 1974, a boy named Joey O’Donnell was born. His strange symptoms—insatiable appetite, relentless vomiting, and an incessant cough that shook his tiny, fragile body, making it difficult to draw a breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue. He was one of thousands of Americans with an inherited lung disorder, cystic fibrosis, which would most likely kill him before his first birthday.
In nearly 40 years between the discovery of cystic fibrosis and Joey’s birth, there had been little progress toward effective treatment, much less a cure. Even after discovering the gene and mutation responsible for causing the disease in 1989, and breakthroughs in how molecules were tested for therapeutic potential, a treatment remained elusive. It was only after the Cystic Fibrosis Foundation formed an unprecedented partnership with a fledgling biotech company that these transformative leaps were harnessed to produce a revolutionary new type of drug—a molecule that could fix the crippled protein at the root of this deadly disease.
Now, for the first time in the history of medicine, scientists have designed personalized drugs to treat this heritable disease. Babies born with cystic fibrosis mutations that killed children for millennia are expected to live rich, healthy, normal lives—have children of their own and become grandparents themselves. What worked for cystic fibrosis is now being applied to diseases from Alzheimer’s and Parkinson’s to diabetes and sickle cell anemia.
Breath from Salt chronicles the riveting saga of cystic fibrosis from an ancient disease arising 5,000 years ago to its identification during autopsies in dank hospital basements, from its celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. It tells how a small group of desperate but determined parents without science, money, or hope pioneered a new way of funding medicines through venture philanthropy and helped form one of the most influential non-profits in the world, a case study in innovation, hubris, and determination.
Told from the perspective of the patients, families, physicians, scientists and entrepreneurs who have fought on the front lines of this disease, it is a captivating and remarkable story of unlikely scientific and medical firsts, of setbacks and success, and of people who refused to give up hope after losing beloved children and friends, and when failure seemed inevitable.
Through this intimate portrait of a heroic community, Breath from Salt provides a fascinating peek into the future of genetics and medicine.
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