02851cam a2200277 i 4500 433874445 TxAuBib 20201130120000.0 200513s2020||||||||||||||||||||||||eng|u 2020018303 9781948836371 HRD 28.95 1948836378 HRD 28.95 TxAuBib rda Trivedi, Bijal P., 1970- Breath from salt. Breath from salt [BOOK] : a deadly genetic disease, a new era in science, and the patients and families who changed medicine forever / Bijal P. Trivedi. Dallas, TX : BenBella Books, Inc., 2020. xviii, 558 pages, [8] unnumbered pages of plates : illustrations (some color) ; 24 cm. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references and index. 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. Provided by publisher. 20201130. Cystic fibrosis. Cystic fibrosis. Treatment.