This is a continuation of my previous post, Book Review: Breath From Salt (Part 1 - Summary).
Trivedi’s narrative of these scientific landmarks is fascinating on its own, but the work is elevated and enriched by capturing the human dimension from multiple angles. She shares the path of the many scientists who worked for decades to make the cure a reality; she talks to families who relate the devastating effect of CF on patients and loved ones; and she introduces both patients who did not live to see a cure and patients who were given a second chance at life. Throughout much of the first half of the book, Trivedi bounces between a chronology of scientific discoveries and patient vignettes. Joey O’Donnell, a cystic fibrosis patient who eventually lost the battle to his disease, became the face of the Joey Foundation, which, led by his father, Joe O’Donnell, raised over 500 million dollars for the development of a cure. The first chapter of the novel -- the reader’s first introduction to cystic fibrosis -- comes in the form of Joey’s birth and diagnosis; through viewing his battle against the disease, one feels the power of the diagnosis much more poignantly than any statistic ever could. As the timeline progresses and landmarks of drug development unfold, their success is shown through their life-changing effects on those enrolled within clinical trials, continuing an agile dance between personal and scientific narratives. These intertwined timelines allow one to connect the science to the human impact, generating empathy for the patients who are no longer faceless to the reader.
Trivedi pulls back the lens to show the larger impact of the drug development process on the field as a whole. Cystic fibrosis is an orphan disease even within the orphan disease classification, and so within each step of the journey to drug approval, a precedent was set for all future orphan diseases searching for treatment. Once scientists were able to demonstrate the efficacy of refolding proteins and restoring chloride channels, they set the stage for all future drug development, ending the struggle to find sponsors due to the wide-held belief that such an accomplishment was impossible. Significantly, Kalydeco was the first drug to be approved based solely on engineered cell models. This process of determining the therapeutic success of a drug in the lab, also known as theratyping, created the potential to develop personalized therapies for mutations too rare to have their own clinical trials.
In 2019, the National Cystic Fibrosis Research Foundation announced a planned investment of 500 million dollars into gene editing, gene therapy, and stem cell treatments in order to treat uncommon and under-researched mutations which cannot be corrected with current drugs. Despite the prior setbacks experienced by the field of gene therapy, once illnesses such as inherited vision loss, cancer, and sickle cell disease began to achieve successful therapies through gene therapy, genetic research experienced a strong resurgence. The future of cystic fibrosis diagnosis may lie in the treatment of fetuses within the womb, as demonstrated by an experiment performed at Yale University in 2019. In it, researchers successfully delivered nanoparticles that contained gene-editing instructions into the amniotic fluid of a developing mouse fetus, which were then utilized by the lung cells in order to correct the mutation, making the lungs visibly healthier than before. Although only tested within mice fetuses, the success of the experiment demonstrates that such a procedure may be possible within larger organisms in the future. In addition to gene editing, scientists have begun to explore the possibility of extracting airway stem cells from the lungs of patients, correcting the pathogenic or harmful mutations, and then returning the stem cells to the lungs. Novel technologies such as stem cell treatments, gene therapy, and gene editing promise a future with earlier diagnosis, pre-birth treatment, and -- ultimately -- a longer life expectancy for the cystic fibrosis community.
Throughout each chapter, Trivedi impresses with her incredible depth of detail and mastery of the topic. Observing a science writer with such a grasp of her topic provides insight on how to approach scientific pieces, specifically the importance of considering all of the stakeholders in an issue and connecting scientific discovery to its real-world impact. It is a whirlwind tour de force, made accessible for readers of all backgrounds who wish to have a better appreciation of how humans make extraordinary discoveries which ultimately benefit real people. This work lends itself to a variety of audiences. Once cannot help but appreciate the magnitude of effort required for scientific discoveries to be achieved and applied. Those who look to expand their understanding of scientific progress and step out of their literary comfort zone are encouraged to pick up Breath From Salt. My hope is that readers will push against the impulse to overlook such a lengthy book, since it is truly worth every minute spent.
コメント