Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever
Autor Bijal P. Trivedien Limba Engleză Hardback – 8 sep 2020
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.
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Specificații
ISBN-10: 1948836378
Pagini: 576
Dimensiuni: 165 x 240 x 47 mm
Greutate: 0.79 kg
Editura: Simon And Schuster Group USA
Colecția BenBella Books
Locul publicării:United States
Descriere
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.
Cuprins
Contents
Introduction
Part I Chapter 1: Hello, Joey 1974 Chapter 2: The Treatment Plan 1974 Chapter 3: Case 44: Babies Hospital, New York City 1935 Chapter 4: A New Disease 1936-1937 Chapter 5: An Equal Opportunity Disease 1938-1942 Chapter 6: Christmas Homecoming 1974-1977 Chapter 7: The Sweat Test 1943-1960 Chapter 8: A Tribe of Desperate Parents 1950-1955 Chapter 9: Lessons from Polio 1955-1960 Chapter 10: The Registry 1960-1966 Chapter 11: The Therapist 1977 Chapter 12: A Disease in Search of Ideas 1964-1980 Chapter 13: The Hitman Cometh 1979-1982 Chapter 14: Salt and Water 1970-1981 Chapter 15: Salty Boy 1981-1983 Chapter 16: Birth of an Advocate 1984 Chapter 17: Out of Many, One 1978-1984
Part 2 Chapter 18: The Gene Hunters 1980-1984 Chapter 19: Lucky Number Seven 1984-1985 Chapter 20: Kate 1986 Chapter 21: To Screen or Not to Screen Newborns 1985 Chapter 22: Michigan 1985 Chapter 23: Joey's Long Goodbye 1986 Chapter 24: Mad Pursuit 1987 Chapter 25: The Gene 1989 Chapter 26: Runny, Like Water 1989-1994 Chapter 27: Venture Philanthropy-A New Way to Fund Drug Development 1977-1999 Chapter 28: The Gene Is the Medicine 1989-1991 Chapter 29: Transforming the Lungs 1992-2003 Chapter 30: First-in-Human Trials 1992-1993 Chapter 31: The Beall Curve 1996
Part 3 Chapter 32: The Joey Fund 1989-1999 Chapter 33: A Network for Developing Therapeutic Drugs 1997-1998 Chapter 34: Aurora 1998-1999 Chapter 35: The Gates Open 1987-2000 Chapter 36: A Tale of Four Families-CF in the New Millennium 1999 Chapter 37: The Takeover 2001 Chapter 38: Getting the Band Together 2001-2003 Chapter 39: Pay to Play 2002-2004 Chapter 40: Molecular Architects of Vertex West 2004-2005 Chapter 41: Rat to Man 2003-2004 Chapter 42: A Christmas Gift 2004-2005 Chapter 43: The Lucky Four 2005-2007 Chapter 44: The Doorman Launches the Era of Genetic Medicine 2007-2008 Chapter 45: Disruption Fall 2008 Chapter 46: Tasting like Average People 2010-2012 Chapter 47: Milestones to a Cure 2004-2015 Chapter 48: Tackling the Common Mutation 2004-2013 Chapter 49: What Mutation Are You? 2013-2014 Chapter 50: The Mother of All Deals 2014 Chapter 51: Very Personal Clinical Trials 2021-2017 Chapter 52: The Triple 2015-2017 Chapter 53: The Home Stretch 2018 Chapter 54: The Leftovers 2015-2020 Chapter 55: A New Generation 2017-2020
Epilogue 2019-2020
Acknowledgments Timeline Endnotes About the Author