mariahhanley's review against another edition
5.0
This is an incredible, well-researched, and thorough look at the past and present of cystic fibrosis. As a person with CF, I learned so much about myself and the condition I live with every day. I highlighted probably 50 passages and spent the last ten days asking my family “Did you know this? What about this?” and telling them cool things I learned. I would compare this to The Gene- it is undeniably science writing, but it is perfectly accessible for someone without a science or medicine background. I’ve recommended it to dozens of people, and just cannot day enough positive things about the book. I am just thrilled that a book about the history of CF exists, and that it’s this phenomenal book.
I received a review copy from the publisher, which in no way affected my review.
I received a review copy from the publisher, which in no way affected my review.
judyb's review against another edition
hopeful
informative
inspiring
medium-paced
5.0
Really enjoyed. Incredible insight into the development of drugs to help cf patients
sarahleyyc's review against another edition
informative
medium-paced
4.75
This book is very heavy on science and names - but totally worthwhile! It's a fascinating dive into Cystic Fibrosis and how identifying the gene and mutations led to the development of drug treatments.
txkate92's review against another edition
5.0
One of the most fascinating books I’ve ever read - a must read for people who enjoyed Isaacson’s The Code Breaker.
pippapeach's review against another edition
emotional
informative
reflective
medium-paced
soderick's review against another edition
emotional
hopeful
informative
inspiring
reflective
sad
medium-paced
5.0
urlphantomhive's review
4.0
As a PhD researcher working on Cystic Fibrosis I immediately knew I had to get this ARC and read Breath from Salt, which will be published tomorrow on September 8, the 31st anniversary of the publication of the CFTR gene, mutations in which cause Cystic Fibrosis. I wanted to read it to get more background and personal stories, and I am also looking for accessible ways in which to introduce my thesis subject to my friends and family.
Breath from Salt aims to tell the story of Cystic Fibrosis from the early days before it was recognized, over the helpless days where the diagnosis was a (very) early death sentence, to the currently hopeful days where CF specific drugs that can restore the faulty protein have started to reach the market. This is the story of nothing short of a revolution - where Cystic Fibrosis helped to make sure that rare diseases (CF itself is considered the most common of the rare diseases) get the research and resources that are needed, and then again at the forefront of the treatment revolution that is called personalized medicine.
However, I suggest Breath from Salt should be re-titled An American History of Cystic Fibrosis.
The beginning was great! I was rather excited to be reading this, so I probably bothered a lot of people with my constant status updates. While I knew the main parts of story here, they are usually only summarized in review papers like "Dr. Dorothy Andersen was the first to describe CF in 1938...". Breath from Salt however was adding the personal touch and anecdotes to these early discoveries that was exactly what I was hoping to find. Interspersed was the touching story of a family struggling with CF in a time there were so little options. Sad as it was to read about it, it also highlighted how far we have come from those days.
Next up, there was a lot of basic science to discover. After being able to recognize and diagnose Cystic Fibrosis, the next question was: what is going wrong in Cystic Fibrosis? This is essential to know in order to figure out how to fight the disease. Its clustering in families made clear there had to be a genetic cause, the salty sweat (people with CF taste salty) pointed towards a defect in salt transport. The unraveling of how (which part of the DNA was mutated) and what (which functions where the cells missing because of it) was super interesting to read for me. All of this is science that was performed before I was born, let alone read about CF, and it was great to see it all together in one place.
The gene hunt culminates with the discovery of the CFTR gene which was published on September 8, 1989 in three papers in Science. From there on the focus is on remedies for the disease. And after a very short stint into gene therapy the focus becomes the collaboration of the Cystic Fibrosis Foundation and Aurora (later: Vertex) in the search for so-called CFTR modulators, which would restore the faulty CFTR protein. The story of the CFF was interwoven throughout the earlier parts as well, showing how it became a large and successful patient organization which had the means to hire a company to start working on Cystic Fibrosis (and not for example cancer or diabetes or any other much more common diseases).
This was the part I knew best already - since it was all more recent. It was interesting to read how these molecules which I work with on a daily base (VX-770; VX-809/661; VX-445) came to be. However, I was a little bit disappointed because it no longer focused on other scientific discoveries besides the Vertex development of CFTR modulators. One of the amazing things in the first parts was how it showed that science is a group effort. Discoveries are made because groups at different labs work together and build onto the results from one another to find the gene, discover the protein, and what the mutations do to disrupt it. There was very little non-Vertex related science in the latter part of the book. There is a very short mention that CFF funds some other pharmaceutical companies as well, but that is about it. I suggest this website if you are interested in all ongoing clinical trials into new treatments: https://www.cff.org/Trials/pipeline
Which brings me to my suggested title. There is little to no mention of Europe. Cystic Fibrosis is at least as common in Europe as it is in Northern America, and based on reading this book one might suggest there is no research at all across the pond. As a European-based CF researcher I found this a little unfair. Especially near the end when rare mutations (CF can be caused by different mutations, some of them are only found in a handful of people with CF, and there are no medicines yet for these mutations) are discussed I feel the European effort should have been acknowledged.
Because it does mention how CFF are engineering rare mutations in their models, and Vertex' All in For CF Program, but it doesn't talk for example about HIT-CF (https://www.hitcf.org/) the large ongoing European project with teams from the Netherlands, Belgium and Portugal where new drugs from multiple companies are tested directly on cells derived from people with these rare mutations. It doesn't discuss the human intestinal organoid model (stem cells taken from a small, minimally invasive biopsy and then grown in a petridish where they form some kind of a mini-organ), which correlates very well with clinical data from people with CF. And since it is a minimally invasive procedure these are available from many, many patients and really allow to perform personalized medicine. (You can find the original paper describing the assay over here: https://www.nature.com/articles/nm.3201) 500+ pages and the only reference to organoids at all (it was lung organoids in this case) was to say that some researcher in the Netherlands (not mentioned by name) received some funding to study a certain type of mutation.
Since a picture says more than a thousand words and this assay is something I also perform, I will include a little movie from my own results demonstrating the assay over on my blog https://www.urlphantomhive.com
These things obviously only bothered me because I already knew a lot about the subject (and I am from Europe). As an introduction I think it would work really well, not just into Cystic Fibrosis but also into the ideas and challenges of personalized medicine. Or for anyone who likes to read science books. For me, the recap of all the 'old' science was great, and I wouldn't have minded if the focus had remained more on the science part rather than the business part after the discovery of the gene. I found it rather readable and accessible, but I can't really vouch for people unfamiliar with many of the scientific terms used.
I would certainly recommend Breath of Salt - just keep in mind that while it covers a lot already, there is still a lot more going on.
Thanks to the publisher and Netgalley for providing me with a free copy of this book in exchange for an honest review!
Find this and other reviews on https://www.urlphantomhive.com
Breath from Salt aims to tell the story of Cystic Fibrosis from the early days before it was recognized, over the helpless days where the diagnosis was a (very) early death sentence, to the currently hopeful days where CF specific drugs that can restore the faulty protein have started to reach the market. This is the story of nothing short of a revolution - where Cystic Fibrosis helped to make sure that rare diseases (CF itself is considered the most common of the rare diseases) get the research and resources that are needed, and then again at the forefront of the treatment revolution that is called personalized medicine.
However, I suggest Breath from Salt should be re-titled An American History of Cystic Fibrosis.
The beginning was great! I was rather excited to be reading this, so I probably bothered a lot of people with my constant status updates. While I knew the main parts of story here, they are usually only summarized in review papers like "Dr. Dorothy Andersen was the first to describe CF in 1938...". Breath from Salt however was adding the personal touch and anecdotes to these early discoveries that was exactly what I was hoping to find. Interspersed was the touching story of a family struggling with CF in a time there were so little options. Sad as it was to read about it, it also highlighted how far we have come from those days.
Next up, there was a lot of basic science to discover. After being able to recognize and diagnose Cystic Fibrosis, the next question was: what is going wrong in Cystic Fibrosis? This is essential to know in order to figure out how to fight the disease. Its clustering in families made clear there had to be a genetic cause, the salty sweat (people with CF taste salty) pointed towards a defect in salt transport. The unraveling of how (which part of the DNA was mutated) and what (which functions where the cells missing because of it) was super interesting to read for me. All of this is science that was performed before I was born, let alone read about CF, and it was great to see it all together in one place.
The gene hunt culminates with the discovery of the CFTR gene which was published on September 8, 1989 in three papers in Science. From there on the focus is on remedies for the disease. And after a very short stint into gene therapy the focus becomes the collaboration of the Cystic Fibrosis Foundation and Aurora (later: Vertex) in the search for so-called CFTR modulators, which would restore the faulty CFTR protein. The story of the CFF was interwoven throughout the earlier parts as well, showing how it became a large and successful patient organization which had the means to hire a company to start working on Cystic Fibrosis (and not for example cancer or diabetes or any other much more common diseases).
This was the part I knew best already - since it was all more recent. It was interesting to read how these molecules which I work with on a daily base (VX-770; VX-809/661; VX-445) came to be. However, I was a little bit disappointed because it no longer focused on other scientific discoveries besides the Vertex development of CFTR modulators. One of the amazing things in the first parts was how it showed that science is a group effort. Discoveries are made because groups at different labs work together and build onto the results from one another to find the gene, discover the protein, and what the mutations do to disrupt it. There was very little non-Vertex related science in the latter part of the book. There is a very short mention that CFF funds some other pharmaceutical companies as well, but that is about it. I suggest this website if you are interested in all ongoing clinical trials into new treatments: https://www.cff.org/Trials/pipeline
Which brings me to my suggested title. There is little to no mention of Europe. Cystic Fibrosis is at least as common in Europe as it is in Northern America, and based on reading this book one might suggest there is no research at all across the pond. As a European-based CF researcher I found this a little unfair. Especially near the end when rare mutations (CF can be caused by different mutations, some of them are only found in a handful of people with CF, and there are no medicines yet for these mutations) are discussed I feel the European effort should have been acknowledged.
Because it does mention how CFF are engineering rare mutations in their models, and Vertex' All in For CF Program, but it doesn't talk for example about HIT-CF (https://www.hitcf.org/) the large ongoing European project with teams from the Netherlands, Belgium and Portugal where new drugs from multiple companies are tested directly on cells derived from people with these rare mutations. It doesn't discuss the human intestinal organoid model (stem cells taken from a small, minimally invasive biopsy and then grown in a petridish where they form some kind of a mini-organ), which correlates very well with clinical data from people with CF. And since it is a minimally invasive procedure these are available from many, many patients and really allow to perform personalized medicine. (You can find the original paper describing the assay over here: https://www.nature.com/articles/nm.3201) 500+ pages and the only reference to organoids at all (it was lung organoids in this case) was to say that some researcher in the Netherlands (not mentioned by name) received some funding to study a certain type of mutation.
Since a picture says more than a thousand words and this assay is something I also perform, I will include a little movie from my own results demonstrating the assay over on my blog https://www.urlphantomhive.com
These things obviously only bothered me because I already knew a lot about the subject (and I am from Europe). As an introduction I think it would work really well, not just into Cystic Fibrosis but also into the ideas and challenges of personalized medicine. Or for anyone who likes to read science books. For me, the recap of all the 'old' science was great, and I wouldn't have minded if the focus had remained more on the science part rather than the business part after the discovery of the gene. I found it rather readable and accessible, but I can't really vouch for people unfamiliar with many of the scientific terms used.
I would certainly recommend Breath of Salt - just keep in mind that while it covers a lot already, there is still a lot more going on.
Thanks to the publisher and Netgalley for providing me with a free copy of this book in exchange for an honest review!
Find this and other reviews on https://www.urlphantomhive.com
zhliu0124's review against another edition
5.0
## What does it take to develop a good drug?
It was a great read, much better than what I expected.
After reading this book, this horrible disease deeply saddened me and I feel so sorry for the kids and the families (I literally cried through the chapter when Joey died). The never-giving up families and the fund raisers also are quite moving. I was excited and inspired by all the scientific progresses made through the past 60 years. The history of fighting Cystic Fibrosis (CF) is such an outstanding example that we humans use modern science to conquer diseases.
To conquer CF, it takes a really long time.
- It was until 1938, when Dr. Dorothy Anderen noticed kids died from CF differed from normal pneumonia and found that this is a new type of disease.
- But it was until 15 years later, in 1953, that the first diagnosis method, the sweet test, was invented.
- During 1955 and 1978, over 20 years, the Cystic Fibrosis Foundation was slowly gaining its pace, securing funding and centralizing the information of CF patients. These efforts were the key elements which helped the drug discovery.
- The CF related research only took off after the foundation decided to focus on supporting research in 1981, and it was fruitful. In eight years, scientists found in CF patient lung airways that chloride levels are high in the mucus, which makes the mucus thick and difficult to be cleaned out.
- In 1989, the CF gene was cloned! This was the greatest milestone because it enables prenatal genetic testing, as well as the mechanistic studies which eventually led to the discovery of the drugs.
- Things were continuously getting better since then, from 1989 to 1997, two other drugs, the Pulmozyme, which cuts the DNAs in the mucus in the lung and makes the mucus more fluid, and the inhaled antibiotics TOBI. These drugs greatly reduced the chances of lung infections and improved the life expectancy of CF patients. Though there were some dark periods when the gene therapy failed and patients died during clinical trials.
- In 1998, the drug screening which finally found the panacea for CF started. It was a bold idea for the scientists and a bold decision for the foundation to fully support the endeavors.
- CF patients carry mutated versions of the CF gene, which encodes a chloride channel. This channel is either closed or degraded because of protein misfolding, depending on which types of the mutations the patients are carrying. The idea was to find the chemicals which can open the closed channels, and can help the mutated channels normally fold. No one knew if this strategy would work, and the project has been neglected for a long time. Indeed, it took them 13 years to get the first drug which opens the closed drug. The second drug which helps the folding of the mutated channel, was only approved by the FDA two years ago (2019).
As you can see, to develop good drugs for a disease, it relies on the scientific advances made through the years (for example, here the revolution of molecular biology and a cell system for high-throughput drug discovery), money, a lot of (millions of dollars were infused to the companies and institutions for CF related researches), perseverance of the patients (never give up!), a powerful and well-organized foundation (here the CFF), patient (science is really slow) and luck (the CF is still a lucky one. It happens in most of the patients that the CF proteins are non-functional but still exist, which makes designing drugs to improve their functions possible. In contrast, other diseases are not so lucky. For example, the Fragile X mental retardation, which also caused by the loss of function of a single gene, has no medicine yet. We even haven’t had a good idea what the gene does).
Support science, it is the future!
It was a great read, much better than what I expected.
After reading this book, this horrible disease deeply saddened me and I feel so sorry for the kids and the families (I literally cried through the chapter when Joey died). The never-giving up families and the fund raisers also are quite moving. I was excited and inspired by all the scientific progresses made through the past 60 years. The history of fighting Cystic Fibrosis (CF) is such an outstanding example that we humans use modern science to conquer diseases.
To conquer CF, it takes a really long time.
- It was until 1938, when Dr. Dorothy Anderen noticed kids died from CF differed from normal pneumonia and found that this is a new type of disease.
- But it was until 15 years later, in 1953, that the first diagnosis method, the sweet test, was invented.
- During 1955 and 1978, over 20 years, the Cystic Fibrosis Foundation was slowly gaining its pace, securing funding and centralizing the information of CF patients. These efforts were the key elements which helped the drug discovery.
- The CF related research only took off after the foundation decided to focus on supporting research in 1981, and it was fruitful. In eight years, scientists found in CF patient lung airways that chloride levels are high in the mucus, which makes the mucus thick and difficult to be cleaned out.
- In 1989, the CF gene was cloned! This was the greatest milestone because it enables prenatal genetic testing, as well as the mechanistic studies which eventually led to the discovery of the drugs.
- Things were continuously getting better since then, from 1989 to 1997, two other drugs, the Pulmozyme, which cuts the DNAs in the mucus in the lung and makes the mucus more fluid, and the inhaled antibiotics TOBI. These drugs greatly reduced the chances of lung infections and improved the life expectancy of CF patients. Though there were some dark periods when the gene therapy failed and patients died during clinical trials.
- In 1998, the drug screening which finally found the panacea for CF started. It was a bold idea for the scientists and a bold decision for the foundation to fully support the endeavors.
- CF patients carry mutated versions of the CF gene, which encodes a chloride channel. This channel is either closed or degraded because of protein misfolding, depending on which types of the mutations the patients are carrying. The idea was to find the chemicals which can open the closed channels, and can help the mutated channels normally fold. No one knew if this strategy would work, and the project has been neglected for a long time. Indeed, it took them 13 years to get the first drug which opens the closed drug. The second drug which helps the folding of the mutated channel, was only approved by the FDA two years ago (2019).
As you can see, to develop good drugs for a disease, it relies on the scientific advances made through the years (for example, here the revolution of molecular biology and a cell system for high-throughput drug discovery), money, a lot of (millions of dollars were infused to the companies and institutions for CF related researches), perseverance of the patients (never give up!), a powerful and well-organized foundation (here the CFF), patient (science is really slow) and luck (the CF is still a lucky one. It happens in most of the patients that the CF proteins are non-functional but still exist, which makes designing drugs to improve their functions possible. In contrast, other diseases are not so lucky. For example, the Fragile X mental retardation, which also caused by the loss of function of a single gene, has no medicine yet. We even haven’t had a good idea what the gene does).
Support science, it is the future!
emily_otter's review against another edition
4.0
This book does a wonderful job talking about Cystic Fibrosis (CF) - its history, the genetics behind it, and more. It is a difficult read at times only because of the subject matter. It is handled incredibly way, and though the terminology can be complex at times, it is wholly accessible. A truly remarkable book, and an important read for anyone, regardless of if they know someone with CF or not, or are in the medical field.
Thank you to NetGalley and BenBella Books for the chance to read this!
Thank you to NetGalley and BenBella Books for the chance to read this!
meglindsay's review against another edition
5.0
What a privilege to have this story written in this format at this time. Not many people can say, "I need to know everything about the history and development of this specific rare thing from discovery to the present day, AND I want it in a clear and digestible format." and then HAVE THAT EXACTLY. Took me months to get through the first half and a week to finish the second.
Such a beautiful story of perseverance and sacrifice. The word grateful doesn't do my feeling justice, but I am immensely grateful for every single person mentioned in this story and the author for telling it.
Such a beautiful story of perseverance and sacrifice. The word grateful doesn't do my feeling justice, but I am immensely grateful for every single person mentioned in this story and the author for telling it.