Uploaded July 2026 | Updated September 2026, 2 weeks ago
Probably my all-time favorite book . . . Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever by Bijal P. Trivedi, 2020
Chronicles research on Cystic Fibrosis, centering the tale on parents whose son died of the disease. Does a great job going into the history of research on the disease including the discovery of its genetic cause; the role of patient advocacy groups and venture philanthropy; the birth of personalized medicine; the development of truly life-saving pharmaceuticals; and the patients who remain left out.
More about cystic fibrosis: bit.ly/cysticfibrosisscience
Much of the work is described nicely in Breakthrough: The Race to Find the Breast Cancer Gene by Kevin Davies and Michael White, 1996.
And here’s a structural biology paper showing how the 3 drugs that make up Trikafta (elexacaftor, tezacaftor, and ivacaftor) bind to the faulty CFTR protein and help it 1) fold better (the correctors elexacaftor and tezacaftor) and 2) stay open (the potentiator/doorman ivacaftor).
(1)
Fiedorczuk, K.; Chen, J. Molecular Structures Reveal Synergistic Rescue of Δ508 CFTR by Trikafta Modulators. Science 2022, 378 (6617), 284–290. doi.org/10.1126/science.ade2216.
If you want to know more about the development of the drugs from the pharma side, some aspects of it are discussed in Barry Werth’s book about Vertex, “The Antidote”.
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Key discovery papers:⠀
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1. Rommens, J. M. et al.(1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (80-. ). 245, 1059–1065 science.sciencemag.org/content/245/4922/1059/tab-pdf ⠀
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2. Riordan, J. R. et al.(1989). Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (80-. ). 245, 1066–1073 science.sciencemag.org/content/245/4922/1066/tab-pdf ⠀
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3. Kerem, B. et al.(1989). Identification of the cystic fibrosis gene: genetic analysis. Science (80-. ). 245, 1073–1080 science.sciencemag.org/content/245/4922/1073 ⠀
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good review article: onlinelibrary.wiley.com/doi/full/10.1111/apa.15155 ⠀
More book recommendations:
YouTube: youtube.com/playlist?list=PLUWsCDtjESrE7e5vnJ2g3Ls54UULljyeE
Blog with downloadable PDF: bit.ly/bbbookrecs
Google Doc: docs.google.com/document/d/1vynqLxDitHvqRzNmj2rNRQr5gLbfyquJRmLirImi080/edit?usp=sharing
more about all sorts of things: #365DaysOfScience All (with topics listed) 👉 bit.ly/2OllAB0 or search blog: thebumblingbiochemist.com
#biochemistry #molecularbiology #biology #sciencelife #science #realtimechem
Probably my all-time favorite book . . . Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever by Bijal P. Trivedi, 2020
Chronicles research on Cystic Fibrosis, centering the tale on parents whose son died of the disease. Does a great job going into the history of research on the disease including the discovery of its genetic cause; the role of patient advocacy groups and venture philanthropy; the birth of personalized medicine; the development of truly life-saving pharmaceuticals; and the patients who remain left out.
More about cystic fibrosis: bit.ly/cysticfibrosisscience
Much of the work is described nicely in Breakthrough: The Race to Find the Breast Cancer Gene by Kevin Davies and Michael White, 1996.
And here’s a structural biology paper showing how the 3 drugs that make up Trikafta (elexacaftor, tezacaftor, and ivacaftor) bind to the faulty CFTR protein and help it 1) fold better (the correctors elexacaftor and tezacaftor) and 2) stay open (the potentiator/doorman ivacaftor).
(1)
Fiedorczuk, K.; Chen, J. Molecular Structures Reveal Synergistic Rescue of Δ508 CFTR by Trikafta Modulators. Science 2022, 378 (6617), 284–290. doi.org/10.1126/science.ade2216.
If you want to know more about the development of the drugs from the pharma side, some aspects of it are discussed in Barry Werth’s book about Vertex, “The Antidote”.
⠀
Key discovery papers:⠀
⠀
1. Rommens, J. M. et al.(1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (80-. ). 245, 1059–1065 science.sciencemag.org/content/245/4922/1059/tab-pdf ⠀
⠀
2. Riordan, J. R. et al.(1989). Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (80-. ). 245, 1066–1073 science.sciencemag.org/content/245/4922/1066/tab-pdf ⠀
⠀
3. Kerem, B. et al.(1989). Identification of the cystic fibrosis gene: genetic analysis. Science (80-. ). 245, 1073–1080 science.sciencemag.org/content/245/4922/1073 ⠀
⠀
good review article: onlinelibrary.wiley.com/doi/full/10.1111/apa.15155 ⠀
More book recommendations:
YouTube: youtube.com/playlist?list=PLUWsCDtjESrE7e5vnJ2g3Ls54UULljyeE
Blog with downloadable PDF: bit.ly/bbbookrecs
Google Doc: docs.google.com/document/d/1vynqLxDitHvqRzNmj2rNRQr5gLbfyquJRmLirImi080/edit?usp=sharing
more about all sorts of things: #365DaysOfScience All (with topics listed) 👉 bit.ly/2OllAB0 or search blog: thebumblingbiochemist.com
#biochemistry #molecularbiology #biology #sciencelife #science #realtimechem
