Bijal P. Trivedi

Breath from Salt (eBook, ePUB)

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

• Format: ePub

Produktbeschreibung

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 typefrom 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 coughwhich shook his tiny, fragile body and made it difficult to draw breathconfounded 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 1989discoveries 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 hopeand a fascinating peek into the future of genetics and medicine.

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Produktdetails

• Verlag: Simon + Schuster LLC
• Seitenzahl: 576
• Erscheinungstermin: 8. September 2020
• Englisch
• ISBN-13: 9781948836623
• Artikelnr.: 58650764

Autorenporträt

Bijal P. Trivedi

Inhaltsangabe

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