#147 CF Series: Bijal Trivedi on "Breath From Salt"
This episode launches DNA Today’s Cystic Fibrosis Podcast Series! Over the next three episodes of the podcast we will be exploring cystic fibrosis’ history, patient experience and ongoing drug development.
Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY”for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.
To kick off this series our host Kira Dineen is joined by Bijal P. Trivedi, an award-winning journalist specializing in longform narrative features about biology, medicine, and health. She is the Senior Science Editor at National Geographic. Trivedi has just completed her first book, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. Bill Gates reviewed Breath from Salt on his blog and recommended it as one of the top five books for 2020. The book was also on the Longlist for the 2021 PEN/E.O. Wilson Literary Science Writing Award.
Trivedi’s writing has been featured in The Best American Science and Nature Writing 2012, National Geographic, Scientific American, Wired, Science, Nature, The Economist, Discover, and New Scientist. Her work has taken her from the Mexico-Guatemala border where she covered the use of genetically modified mosquitoes for fighting the dengue virus to the behind the scenes at Massachusetts General Hospital where she watched trauma surgeons test hypothermia to save pigs with life-threatening injuries to Moscow’s Star City where she blasted off with space tourism entrepreneurs on the “Vomit Comet” for astronaut training. She also edited the NIH Director’s Blog and, prior to that, helped launch the National Geographic News Service in partnership with the New York Times Syndicate, which she wrote for and edited. Her undergraduate fascination with biochemistry and molecular biology at Oberlin College compelled her to pursue a master’s degree in molecular/ cell/developmental biology at UCLA. Her love of writing drew her to journalism rather than to a lab bench—and to a second master’s degree in science journalism from New York University.
Trivedi has focused on long-form feature stories on complex scientific topics from genetic testing and art authentication to the carbon footprint of our diet and genetically modified mosquitoes. Her New Scientist story “Slimming for Slackers” won the 2006 Wistar Institute Science Journalism Award. “Life on Hold,” also written for New Scientist, won the 2005-2006 Michael E. DeBakey Journalism Award. “The Rembrandt Code,” published in Wired, was tagged “Outstanding story on any subject: Print” by the South Asian Journalists Association. Trivedi co-authored “A Guide To Your Genome” that won the 2009 National Institutes of Health “Gold” Plain Language Award. Most recently, her feature “The Wipeout Gene” was selected for The Best American Science and Nature Writing: 2012. Trivedi taught in New York University’s graduate Science, Health and Environmental Reporting Program from 2007-2012.
On This Episode We Discuss:
Overview of cystic fibrosis
Major cystic fibrosis medical advances and “firsts in medicine”
Revolutionary techniques utilized to find the cystic fibrosis gene, CFTR
Original gene therapy trials obstacles
Two types of CFTR genetic mutations and the effects on the protein
Genetic registry to speed up clinical trials
Drug research and development to treat cystic fibrosis
Venture philanthropy to innovatively fund pharmaceutical research and development
Want to read Breath From Salt? Enter our giveaway to win your own copy! Head over to our tweet, Instagram post, LinkedIn post, and Facebook post to enter to win a free book!
Stay tuned for the next installment of DNA Today’s Cystic Fibrosis Podcast Series on May 21st! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also produced with video which you can watch on our YouTube channel.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.
Full Transcript of Episode
0 (0s):
Picture Genetics is a unique DNA testing service with tests designed for every stage of life, including family planning, With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids, such as cystic fibrosis, which we're going to be exploring in this brand new series on DNA Today. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. It's easy to order and understand it with good looking reports to order your Picture Genetics test, go to Picture Genetics dot com and use code DNA Today for 25% off and free shipping. Get actionable genetic insights today to benefit your family of tomorrow.
0 (1m 2s):
Hello, you are listening or watching DNA Today. We are a Genetics podcast and radio show. I'm your host, Kira Dineen. I'm also a certified genetic counselor practicing and the prenatal space on the show. We explore Genetics impact on our health, through conversations with leaders in Genetics. These are the experts like genetic counselors, researchers, doctors, patient advocates, and more. My guest today is the award winning journalist Bijal Trivedi on. She is a fantastic writer. I just have to say right off the bat, we are going to be diving into her first book, Breath From Salt. And if you're watching this on YouTube, this is the cover of the book. And obviously I loved it because I have so many sticky notes and highlights, and I just learned so much from it.
0 (1m 46s):
So thank you. First of all, for taking the time to write this book and Chronicle, you know, the journey that has been cystic fibrosis, I love it. You know, beginning of the book you write, it's a new lens through which to view the progress of Medicine. And it's just amazing how much you've been able to document with this from like the discovery of the condition to the development of groundbreaking treatments. I mean, there's been so many advances for cystic fibrosis over the last 50 years and a lot of firsts in medicine before we dive into all that, because I have so many questions to ask you about it. Can you describe what cystic fibrosis is for people that are not as familiar with the disease as we are?
2 (2m 29s):
Sure. Well, Kira, thanks for having me on for that is a real privilege and I'm happy to talk to you today. Cystic fibrosis is it's a fatal genetic disease and it's the disease that, you know, most often is described as, as a lung disease. But in fact, it, and it affects the entire body. It infects the affects the lungs, the sweat glands, the pancreas, the digestive system, and, but is, but it's the, the infections that, that occur in the lungs that are actually the most Deadly and, and kill Patients. And when it was first discovered, Patients often didn't make it to their first birthday, but now the, the age a survival rate is age 47.
2 (3m 20s):
So that's a huge improvement.
0 (3m 23s):
And that's just in the last 50 years. I mean, it's just remarkable how you, as you said, going from, it was an infant tile disease that, you know, babies would die young from this, and now people are 47 and, and parents of their own children. So it's just a fantastic example of how far Medicine can come. And just a few decades, part of the excitement, obviously we're a Genetic show. So that was the part that I was really intrigued in. And I would say a good portion of the book talks about the genetics and the genetic mutations and, you know, the information surrounding that. So the search for the cystic fibrosis gene was really a race, I would say. And you kind of capture that really well. And you're going along the journey. There is just the reader, what techniques were used in order to figure out which Gene how's the mutations that led to the disorder.
0 (4m 9s):
I mean, why was this Revolutionary?
2 (4m 13s):
Well, they started the hunt for the cystic fibrosis gene back in 1981 and in sort of in a very serious way. And in 1981, there was no genome. The human genome had knot. The human genome project had not even begun, that would be in the nineties, but that would kick start. So there was no map of, of human DNA. We didn't know what genes were on which chromosomes, it was essentially the wild West. And so we have this disease, cystic fibrosis, and no one knew what caused it. So you have a completely, it's like having an unlabeled map of America and you have to find a location where the problem is, and you, you don't, I mean, you don't even know the road's, you don't know the town's.
2 (5m 7s):
So they have to start from the very beginning and, and figure out how do we find the disease when we don't even know the cause we don't even know what to look for in the DNA. And the human genome has about 3 billion building blocks. So they would have to go through all of those 3 billion building blocks, one by one and find the gene that causes cystic fibrosis. So that was impossible to do so they, they basically figured out a hack, which was a brilliant, brilliant hack. And that was that they decided to collect the DNA from families all over the country, all over the us and all over Canada and, you know, DNA from the mothers and fathers and the children who had fibrosis and as well as their healthy siblings.
2 (6m 1s):
And they would take the DNA from all those people on what they were looking for was a little piece of DNA that was carried by all the people that had cystic fibrosis, but not their healthy siblings. So basically, you know, the cystic fibrosis mutation arose about 5,000 years ago. It is thought to have arisen about 5,000 years ago. So they're looking for a tiny bit of DNA, a mutation that has been passed down from generation to generation and has now wound up in these children. And it's a tiny little piece because every time every generation you get less and less From, you know, less and less DNA from the previous generation.
2 (6m 48s):
So it was, it was a massive undertaking and it took basically eight years to find that gene, and it was one of the first human disease genes found. So there are so many firsts with cystic fibrosis, but I think that is probably one of the most significant
0 (7m 8s):
Yeah, I think so. And just seeing like, you know, all that it took to get there, as you said, I love that analogy of, they didn't even know like where are the roads were because, you know, putting it into perspective, we didn't have the first draft of the Genome until what, 2001 somewhere around there. So this is like 20 ish years before that. So that's like a lifetime in Genetics, you know? And we think about how fast
2 (7m 30s):
Maybe it is. And especially when you, when you think about how slow sequencing the genome was back then, and, you know, I was in the lab for a little bit and the snip sequencing was slow and we used radioactive isotopes and it was, it was glacial. So, you know, things have come a long way since then. Yeah,
0 (7m 51s):
Yeah, definitely an after they did find, okay, this is the Jean that, you know, the mutations happen in. That's what causes the disorder. Obviously we set that was such a landmark discovery. There was a lot of excitement now of, okay. We found the Gene, we are going to be closer to better treatments and hopefully a cure. And that led to, you know, discussions and, you know, clinical trials with gene therapy. Why were some of the reasons why a lot of this didn't pan out and didn't end up, you know, working out in terms of all the excitement that was there?
2 (8m 26s):
Well, also during the eighties and the early nineties, it was a lot of excitement about, and gene therapy. So people thought, okay, in a human Disease, a Genetic human Disease, you have a broken chain. So what if we could give that patient a healthy copy of that gene wouldn't that theoretically fix the problem. And there was a lot of early evidence that this would work so well. A lot of animals studies and work was done in a few immune diseases where they prove that if you gave a patient a healthy copy of the gene in their bone marrow, they could produce normal blood cells and they would have a robust immune system and they could fight Disease.
2 (9m 12s):
But of course the cystic fibrosis results from a protein that is broken in every cell in the body. So you have to get this, this gene that is healthy copy of the gene into every cell. And this was back in the early nineties.
And, and there was very, I mean, gene therapy, the idea of gene therapy and in the early experiments, or it was all just starting, it was sort of the beginning of the revolution. And the theory was so neat, right. You know, you've got a broken gene. I found the healthy one, lets just make lots of copies of the healthy gene and throw it into people. But with cystic fibrosis, it's a complicated disease.
2 (9m 53s):
I mean, how do you get the gene into the body? So what they decided to try was they took the Gene, they inserted it into a virus and this virus was special. It was a cold virus. So in normally this would be something that would cause you a cold, but they took out the bad DNA from it. So it was basically an empty virus shell. They put in the healthy Jane's cystic fibrosis gene, and then they basically spritzed it into the lungs of people with cystic fibrosis. And they did it in a, you know, very small quantities because you know, early stage clinical trials are largely for safety and in a tiny part of the lung, they found that the Gene actually entered lung cells.
2 (10m 42s):
When it got into the cells, started making a healthy type of protein and in a meniscul part of the lung, they had fixed the disease. But when they tested Patients a little while later, it's seen that the gene was no longer there. The healthy gene was no longer they're, it was no longer making healthy protein. And it was a very transient effect. And what was more worrying is when they put this, you know, virus carrying this gene therapy into the lungs, the immune system basically freaked out. And as it should, you know, as we know with coronavirus, when you inhale the virus and your immune system goes on full alert to kill that virus to get out of the lungs.
2 (11m 28s):
So sadly what was happening in these patients was the immune system was fighting the therapy and killing it before it can do any good. And so that work in the mid nineties made people realize it, you know, Hey, just because you find the Gene, it doesn't mean that it is a disease is going to be easy to fix. And that was particularly the case with cystic fibrosis. And that was the case with other conditions to that. I was
0 (11m 54s):
Trying to be treated in this fashion with a gene therapy. And you know, we can have a whole episode just talking about, you know, all of the work that went in to those early years of gene therapy. The other side of it, that was kind of happening maybe similar time or right after was just looking at, okay. Not just finding the gene, but let's figure out what are the changes in this gene that lead to the disorder. So it's not necessarily just one change. Although there is one that is the most common, you know, over time there's been thousands of mutations as we call them that have been identified. But even though there's thousands, there's two main ways that it affects the protein. So if we're remembering back to high school biology or wherever you learned, your basic Genetics, we have the, the basics of the, the dogma.
0 (12m 42s):
And so with that, we have our DNA and that's the instructions for our proteins to be made. And so, you know, with that in mind with the mutations that are there, what are those two classes of proteins are the two ways that it can be affecting the protein?
2 (12m 60s):
Well, it was, it was really interesting because when they first found the Gene in 1989, they expected there to just be one mutation that caused all of the disease. But actually the mutation that they discovered only caused 70% of the cases of cystic fibrosis, which suggested that they were other mutations out there. And over the next couple of decades, they, they discovered more than 2000 types of mutations. And each of these mutations could break the, the, the protein in a different way. So about 5% of patients with cystic fibrosis have a mutation in which the chloride channel, which is the, the protein that's broken and cystic fibrosis, it sorta jammed.
2 (13m 48s):
So it blocks the passage of chloride in and out of the cell. And those patients need a mutation to sort of pop open that, that a chloride channel. And in the book I called This adore jamming mutation because I felt the need, I had to attach a picture in my brain and it helped you with it.
0 (14m 9s):
And I'm like a visual learner. So I was like going through with you, I'm like, okay, this is the one that does this. Yes.
2 (14m 14s):
Yeah. So the door was jammed and you need a molecule to basically push it open and allowed chloride to move freely. Now the more common types of mutation ended up breaking the protein in a couple of places. And the, the problem with this was that, you know, the protein didn't even get to the outside of the cell where it was supposed to be, it was floating around. It was so badly folded. It was like a broken origami structure that has, you know, where you skipped a couple of the steps. So the protein, instead of being on the outside of the cell, like a doorway, it was floating around inside the cell. It's almost like you had a door inside your house and it was in the wrong location.
2 (14m 58s):
So you needed a couple of those sort of proteins needed a couple of fixes. They needed something to get them to the right location and the cell meaning that the outer cell membrane, and then they also needed another drug to open it up. So they had two problems. So people with those two mutations would theoretically need to drugs to fix that protein. Of course, no one knew that it was even possible to fix the protein at that point.
0 (15m 29s):
Yeah. So there was, this was another, I feel like the book had also be marked by like all the firsts in medicine that we kind of talked about at the top of the show. And this was another one of like, can we fix a broken protein? And I had no idea that this is like the first drug that actually was able to do this. And the first research that was happening with this. So, you know, with your analogy of like, you know, the door's jammed or the door is not quite where it is supposed to be yet. So those were the two main problems. So when it came to our aid, let's figure out how to fix a broken protein. I mean, how did Scientist attempt this? What was the first drug to start fixing this General problem with the protein?
2 (16m 8s):
Well, when first, when the, the people that are funded and, and sort of came up with the idea that maybe this might be possible, the group was a cystic fibrosis foundation and the, the head of that foundation and Bob bell and a, the head of medical affairs at the time, Preston Campbell, they were talking about this problem. They were frustrated. Gene therapy had totally bombed that wasn't going anywhere. So they said, you know, maybe we can hire a biotech company or pharmaceutical company to try and fix a broken protein. May be, if we can't put a new gene in there, maybe we can fix, what's already broken in the cell.
2 (16m 50s):
Maybe that would be easier. And so they went to a lot of pharmaceutical companies and biotech companies with this idea, and basically they were, you know, loft out of the house. Nobody would listen to them. They're like, you can not fix a broken protein. That's a crazy idea leave. But one company, Aurora bio-sciences, they took the cystic fibrosis foundation seriously. And they liked the challenge. And that, that particular company was launched by Roger Chen and some of his colleagues and Roger Chen discovered the green fluorescent protein for which you won the Nobel prize.
2 (17m 34s):
And he was intrigued by this idea that you could perhaps fix a broken protein. And so his protege pole <inaudible> and started working with the foundation and he, it was possible. He thought, yeah, well maybe it is possible to do this. And they started working in cell assays in animal studies and building molecules, testing them on cells that carry this mutation, the, the cystic fibrosis mutation and trying to fix it. So basically they were doing large scale screening with millions of cells and hundreds of thousands of molecules dumping them on these cells and, and seeing which molecules would actually help the protein work.
2 (18m 27s):
And over years, they were able to find a set of molecules, had the right qualities, and then this amazing, amazing team of chemists at vertical Vertex pharmaceuticals. And that was the company that acquired Aurora. They started tinkering with these molecules that showed some promise and made them exquisitely accurate. So they made a molecule that was later called Kalydeco that could open, that was able to unjam the door for this first type of mutations. They went on to build molecules. That was a way that we're able to fix the most common mutation, lift the protein to the top of the cell and then open it up.
2 (19m 8s):
So this, this group of chemists, I, I just have the highest regard for them. They are brilliant people and, you know, they didn't have much support in terms of chemists and the company, you know, everybody thought this was a nutty idea, but you know, they really, they proved themselves
0 (19m 28s):
And they, they prove themselves so much so that they showed that orphan drugs could be wildly lucrative. I mean, at one point, I don't remember all of the particulars with it, but Vertex, the only revenue they had was from this drug. And so they never thought they were like, Oh, this is like a side project. We'll see what happens with this. And then suddenly they're like, Oh, this is our only source of revenue. Like the tables have really turned. I mean, it takes a lot to get their, as you said, I mean, years and years and years. And so much money has to go into developing these drugs because your starting from screening, all these, you know, chemicals and compounds, and you're saying, okay, which ones are the ones that could become a drug after a lot of extra work?
0 (20m 9s):
I mean, how does the money, you know, get funded for this? This is, you know, one of the more, you know, it's not by definition of rare disease, but certainly at the time, you know, more so, you know, less people knowing about the disease. I mean, how did the cystic fibrosis foundation, how are they able to raise all this money through the ventral philanthropy? I mean, to afford developing drugs, like they were the main source behind that money?
2 (20m 38s):
Well, they were the main source of the early research. So basically when they made a contract Aurora bio-sciences, This, this idea was so, you know, at, in left field that, you know, they, they just basically gave them a little bit of money, you know, a million dollars, see if this is even possible, see if you can build a robot that can start screening these cells and adding in chemicals and detecting which ones might work. Okay. So if you reached that milestone, you know, another 4 million to see if we can scale up this project and they basically kept increasing the milestones that needed to be achieved and the way they were funding, it was, you know, the cystic fibrosis foundation has an amazing volunteer network.
2 (21m 31s):
So those volunteers were raising some money, but basically they realized they had to launch a capital campaign. And the person who led that campaign was Joe O'Donnell, who was, who is a father. And his son, Joey died from cystic fibrosis and that's, you know, a primary thread and the, the story of Breath From Salt. And, you know, he is a very successful businessman and in Boston, and he took it upon himself to, to raise the money that the foundation needed to fund this early development. So Vertex would not agree to fund the research until it was demonstrated that this was a viable idea that this could actually turn into a drug.
2 (22m 19s):
So until the point where they started doing animal testing and clinical testing, the foundation paid for all of that early research. And then when we moved into clinical trials, the company took over because that's when you need you tens of millions of dollars to start funding clinical trials and, and the following research, but basically, you know, no, non-profit no Health, nonprofit had ever raised money through philanthropic donations and then used it to invest in a for-profit biotech company that had never been done before. So the cystic fibrosis foundation was, you know, forging another new path, you know, and, and it led to the development of four successful drugs.
2 (23m 8s):
It's pretty astounding. Yeah.
0 (23m 10s):
I'm sure that a lot of other foundations look at their model in what they were able to accomplish with this and say, okay, how can we see that pathway and mimic that for ourselves? Just because it's, it's, you know, it's really brilliant that they were able to say, okay, we have royalties From, you know, this first Drug let's sell those royalties and the money we get let's pour back into research. And just that cycle was just so interesting to me that, you know, and just being able to raise as much money as they did, especially Joe, Donald, I mean, he raised, what was it like $250 million at when the book was published, which was, you know, just in 2020 that, you know, for just one person. And there's so many other volunteers.
0 (23m 51s):
And so many people mentioned, you know, throughout Breath From Salt that had, you know, big contributions and there, but it's just remarkable that, you know, one person can really make a difference. And then you start compiling that and, you know, this research is being done and so many drugs coming out of it. I mean, it was interesting to that how fast things were able to move, not only just the money being raised, but how fast the research was happening, how fast the drug development was happening. I'm one of the factors of that seemed to be that the, was it the cystic fibrosis foundation that had the Genetic registry? Where are they the ones in charge of,
2 (24m 30s):
Yeah, that's right. That's right. So one of the early things at the foundation did, I mean, one of the amazing things about the cystic fibrosis foundation and I, I probably sound like a spokesperson for them, but I'm honestly, I'm not, I'm a big fan. Yes. I often in writing this book, I am a big fan. I'm one of the amazing things that they did early on was they decided they weren't going to spend money on awareness for, for cystic fibrosis. Every penny they raised, or as much as they can possibly do, would be invested in research to find out what the cause of this Disease. And then later on, after they had found the Gene to find a cure for this Disease.
2 (25m 13s):
And part of that was once they realized, you know, that so little was known about the disease. You know, the foundation formed in 1955, I'm with a bunch of very, very desperate parents. People just didn't know about this Disease. Physicians didn't know about this disease. So to start learning about it, they created a registry of all the patients that were seen at their health centers. And they started compiling data on all of those patients, the names, you know, the ages, what they suffered from. And, you know, once the gene was found, they started sequencing the Gene for each of those Patients to say, okay, these patients have this mutation.
2 (25m 58s):
These patients had this mutation. And by the time that Vertex actually have a drug to test Bob bell from the cystic fibrosis foundation had made sure that virtually all of the patients that were seen that their care centers across the us we're in this database, we're in the registry and that every person's mutation with Narcan. And that was a key development because when Vertex actually had their drug to test and was ready to launch clinical trials, the cystic fibrosis foundation had this enormous registry of patients that were all subdivided based on the, the genetic mutation they carried.
2 (26m 40s):
So they could basically personalize clinical trials and base it on the genetic mutations. So in many ways, this was the first big personalized medicine clinical trial ever. They've done this in certain ways for, for types of cancer, but this was the first time for a genetic disease where they had, they had designed drugs to cure a particular mutation. So the fact that the registry was they're, the patients were lined up. They knew exactly what mutation they all carried. The clinical trials can be run very smoothly.
2 (27m 22s):
And that's normally where a lot of drug trials fail because they can't recruit enough patients, but here, all the patients were ready. They were used to actually participating in medical research because the foundation had made it clear that unless you participate in medical research, you will not get a Drug. So the patients we're good at advocating for themselves. I mean, they're amazing people and they've participated in so many trials, but they really made sure that they had these drugs developed for them. So it was, you know, another first and now, you know, parts of this book read like a manual, I think for other rare diseases, because, you know, they talk about launching a foundation, getting a registry, finding the cause of the Disease and then strategically investing in pharmaceutical companies to develop treatments that are very specific.
2 (28m 20s):
So I think, you know, the, the, the cystic fibrosis foundation sort of laid the roadmap, but it's a roadmap that others can follow.
0 (28m 29s):
Yeah. Certainly. I mean, reading it, as you said, it was kind of like a manual and just taking you through and also that you we've in, you know, so many families and patients stories within the book too. So it really does read like a story, your reading about people's lives and how it unfolds and you know, who is getting what drug and the clinical trials and, you know, one, one sister experiences, Oh, wow. I'm, I'm starting to see relief from symptoms. I must have the actual drug. And on the other sister is like, Oh, I think I might have a placebo. And it really just feeling like your, you know, along with them for the ride. And so it's just, its such a fantastic read, you know, again, Breath From Salt, ah, for people that wanna look it up. And I think that I was saying before we started recording that I feel like this should be required reading for anyone going into healthcare and medicine because it just teaches you so much just through the lens of one condition, but just so much of just different areas of medicine.
0 (29m 24s):
So, you know, I think I am certainly not the only one that, you know, really enjoyed the book. And I just have to say you're such a fantastic writer. I think sometimes it can be intimidating to pick up, pick up a large book and you're like, okay, there's going to be a lot of medical terms, but you break it down so beautifully with like so many, you know, different ways of explaining things that, you know, you're, you're right there with you. So I just, you know, I'm just a huge fan and I just really want it to thank you for taking, you know, so many years to put this all together so that someone could just pick it up and read the history of cystic fibrosis.
2 (29m 58s):
I have to, I just wanted to add in there in addition to your very kind comments, thank you for that. You know, there are so many patient stories. And one thing that was really important to me with this book was to tell the story of this disease and all of the science through the lens of the patients in the Families. So without the patient and the families that would have been no book and people were really generous when it came to telling me their stories. I mean, these are very heartbreaking stories in certain, in certain cases and people were open with me, they shared everything. I mean, lots of medical details.
2 (30m 40s):
And if it weren't for those Families, there wouldn't be a book because it's there stories that I, I found so compelling and I wove the science and the history into their lives. So, you know, they are the backbone of this book
0 (30m 55s):
And that definitely comes through a specialty. I think with the O'Donnell is being really at the center of the book and all the other families with it. I'm thank you so much for coming on. And I think we covered so much, but there's way more in the book. So people definitely need to check that out. Where can people find it? If they want to read it?
2 (31m 14s):
It's on Amazon and it's on all independent booksellers as well. Indie Indigo books, a Barnes and noble, or you can go to my website. I have little buttons for them. I can't remember the name off the top of my head that, yeah, my, my website, you can find out about the book and, and anything else. Yeah.
0 (31m 39s):
And we are going to link to all of that and the show notes for this episode, which is available at DNApodcast.com. So if you only can remember one thing, just go there and then we'll have all the information in there. And if you have any questions about cystic fibrosis or about Breath From Salt, certainly e-mail in info at DNApodcast.com Head over to our social media. So you can enter to win your own copy of Breath From Salt searched DNA Today on Instagram or Twitter and Facebook, the giveaway will end on June 4th, 2021, and winners must have a us or Canadian shipping address. So definitely Head over there so that you can, when your own copy of Breath From Salt. And please, if you have a moment go onto Apple podcast, leave us a rating and review so that others like yourself can find the show.
0 (32m 22s):
So thank you again for coming on and just sharing your wisdom with this. I'm just such a huge fan and everybody needs to check out Breath From Salt. So before ending the show, I want to remind you about Picture Genetics with their exclusive 25% discount for you as a DNA Today. Listener Picture Genetics is different from a traditional direct consumer task because it's clinical grade testing with every case reviewed by a health care provider results are focused on health with medically actual and useful information for you and your family. I did a couple of their kits, including their Picture Parenting one. Here's how it works. I sent off to a tube of my spit to the lab who sequenced a bunch of genes, including CFTR, which you now know is the cystic fibrosis gene.
0 (33m 3s):
This means they read through each gene to see if there was a mutation or pathogenic variance. As we genetic counselors call them, then a geneticist looked at my results. It created a beautifully easy to read report, informing me about my carrier results. And here's my favorite part. There is also a genetic counseling offered. So you speak with a genetic counselor about your results or do your own kit at Picture Genetics dot com and use code DNA Today for 25% off and free shipping. Again, that's Picture Genetics dot com get actual genetic insights today to benefit your family of tomorrow. And thanks for listening and join us next time to discover new advances in the world of genetics.
