Breath from Salt
A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever
-
-
4.5 • 2 Ratings
-
-
- $12.99
Publisher Description
Recommended by Bill Gates and included in GatesNotes
"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." —Publishers Weekly
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.
In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw 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 cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday.
The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease.
From science writer Bijal P. Trivedi, Breath from Salt chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it.
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—and a fascinating peek into the future of genetics and medicine.
PUBLISHERS WEEKLY
Science journalist Trivedi debuts with a glowing account of how Boston businessman Joe O'Donnell, after losing a son to cystic fibrosis in 1986, raised hundreds of millions for the Cystic Fibrosis Foundation, which pioneered the use of "venture philanthropy" for drug discovery. Trivedi covers low points in O'Donnell's story (early on, when still struggling to keep his son alive, O'Donnell had "a sick child gasping for breath, a mortgage, no job, no health insurance, and no backup plan") as well as his triumphs, as he became a powerful businessman and worked with the Cystic Fibrosis Foundation to fund groundbreaking research. Most notably, this included a well-placed investment in Vertex Pharmaceuticals, which in 2012 pioneered the first of several treatments involving drugs matched to patients' individual gene mutations. 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. , Correction: This review has been updated to clarify Joe O'Donnell's role with the Cystic Fibrosis Foundation.
