35 Burst results for "cystic fibrosis"
Interview With Dr. Jason Fung
"Jason. Welcome back to the podcast. It's great to have you on paul. Thanks for having great to be here. We're gonna have a great discussion today. I really loved the new book. The cancer code. And i gotta admit when i dug into the book. It was really what i expected. I was thinking would be more along the lines of fasting. How that could help prevent maybe treat cancer given your background fasting but it was so much more than that. I mean that would have been a great book but this goes really deep into cancer and the evolution of our thinking of cancer over so many years so congrats. I really enjoyed this. Oh thank you very much. And i think that's sort of when i started looking at the issue of cancer. That was sort of how i got into it. Which is why you know most people. I would think think it's going to be about all about sort of fasting and nutrition and cancer but as done sort of deeper into the topic of cancer. There's just so much else going on because clearly cancer is a much more. Broad problem than just attrition because we know things like smoking for example has nothing to do with nutrition. What you eat if you smoke your risk of cancer just goes way way up saying with the best for example. You've exposed as fast as it doesn't really matter what you eat. You're you're great risk of developing a museum which is the type of lung cancer. So that's sort of while it was sort of how got into it as it developed as looking through it more became More and more the question which is never really answered. I think that is really important. Is the sort of how we think about what this problem really is. That is what is cancer. And that's i think one of the greatest remaining medical mysteries because most of these other diseases that we face we sort of know what's causing that. So even when we get a new virus like poof nineteen for example within a few months. We've got this virus like look you know it's still kicking our bod but we've sequenced. We figured it out. It's this is the virus. This is the sequence you know. The dna sequence. This is how it gets in. We've said okay it's the ace two receptors. You know you get at the site of storms. We know so much about it. Even within six months of this sort of brand new disease coming up which has greatest fascinating. Yeah something like hiv. For example it took us years to figure out the actual virus going from age hiv to sort of treatment whereas now you know thirty forty years down the line. We figured out what this virus looks like. We figured out know where detaches we figure so much. Stop so quickly but the problem is that with cancer. What is this disease. Such a strange disease because it's a common disease. It's the second biggest killer of americans yet. If you were to ask the question of what is this disease. People have no idea. Most experts have no idea like you ask the american cancer society and it says well. It's a disease of genetic mutations and that's not really correct because if it was simply a matter of genetics that is You know just bad luck genetically then. Why does environment play such a huge role in this genetic disease. That is if you have a disease. Such as cystic fibrosis sickle cell anemia. All these genetic diseases they passed on sort of mother to child or they have a significantly higher risk in we can identify the genes that are associated with it on the other hand. It doesn't matter if you're japanese if you're african if occasion If you smoke you're much more likely to get lung cancer. So it's not a genetic disease in that sense yet. People have been saying it's genetic disease donate disease and the problem with that. Is that if you don't understand what causes it. Your research sort of goes in the wrong direction that is looking for these genetic mutations and they progress in cancer has really slowed to a halt. Like if you think about how many genetic sort of tours for cancer we have. It's very very few the number of medications that makes a difference to cancer. You can count on one hand in most of those were developed in the early part of the sort of late nineties early two thousands rates with that was twenty years ago and whereas all these great genetic cures for cancer. We just don't see them in because it's not nearly a genetic disease and we have to sort of understand further and this is this is really an exploration of how the way we think about cancer has changed over the last little bit because there's been a huge paradigm shift from being a genetic disease tomorrow logical evolutionary disease which has huge implications for treatment.
Documenting Life with Cystic Fibrosis
"He looks back to another episode of this week and photo I'm your host Frederik van Johnson today we're traveling all the way to Dubai from California to talk with Katharina about some amazing work that she put together. We're going to dive in deep. We don't have a whole lot of time, but I want to dive in and get an idea of the project. She's put together that she's shooting or that she shot the the the driving force behind that and you can read all about this in the the companion article on the blogger for dot com. But I WANNA I WANNA dive into get a little bit get a little bit deeper and take different angles. So kathrina welcome to the show how are you doing? Thanks for having me. Is. Good to have you, it is really good to have you. You know you are right now sitting in Dubai I gotTa tell you. Dubai is on my list of cities that I absolutely have to go visit. I gotTA climb to the top of that the tallest building in the world. If I if they let me up there, I need to do that. So tell me about that I about yourself tells about Kevin and what makes what your driving force that that pushes you to create these amazing images that you create. So I'm Swedish born in Sweden I left when I was eleven. Had lived in Pakistan and Turkey and California, and and also in France and England and I ended up in Dubai when I was eighteen years old and I walked into a newspaper and then said. I'm really good photography should hire me and I only had a couple pieces. I don't again shooting for the high school use paper. And I think they just I don't know they just took a chance and I got a job with them and I started shooting. For this newspaper and was really interesting time I stayed for almost a year and then I start desisting for for four years almost. So that's Kinda where my training. Happen. Really. And I've been. Working in the commercial sphere in in the United Arab Emirates. Since Nineteen ninety-two I've been here who? How? Wow. Okay. So you're not a visitor, you're a resident. What's life like there? What's life like in Dubai for photographer? Me and I'm asking selfishly because one day. I'm going to go there. If I if I show up into by what, what do I have to expect? It's actually like a super vibrant community. It's very arty community. It wasn't I arrived I mean I was the only female photographer here and that obviously has changed in the last twenty eight years Now it's it's really amazing place to be. You're also in a can. I feel like we're in the middle of the world there because we are now four hours to Kenya, you're coming up hours to You know to Jordan Ghanistan four hours to you know SRI. Lanka and Maldives. So. Kind of you can hope on play. Well, not right now but you Name and and be anywhere. You know within four or five hours I love. That's how I worked in the whole region for for traveling and it's been you know Saudi and Bahrain and Qatar in all these places so I feel Very, much at home in this part of the world mnay. Back to Europe feel a little like I say, Hi to everyone people elect why she saying hi to us. It's more like. It's very friendly now. Wow, that's exciting. Yeah. That's city beds that whenever I see pictures like pictures of Dubai, are on my screen saver on my television. So you know whenever that comes up I'm just thinking that just looks like a city of the future. It looks like if you in this is kind of what he did. It looks like when you if you had a blank canvas and you said, you know what? I want to build an money's no object. Obviously. Build the best city that I can possibly build. This is the city that you would build as. I think very much like that is so modern in you know in. So many ways of of you know the way you conduct your daily life it's oil online and this kind of you can you can it's it's so accessible. I have to say that this morning when it's actually today is the day of. Summer and full rights Eckrodt's. Think. To, Dame, we've had an yesterday we've had fog and it happens when it changes weather from summer you know being really really hot. So every photographer in Dubai on instagram today and yesterday had pictures you know. Everyone makes up. Summer is over let's go out and shoot. Dubai. That's the thing you know photographers. If you you you. If you're in a place without studying places to photograph, it's kind of like torture right? Because you have got what was amazing geared software and others but I don't have anything to take photos of sounds like you. You have what you need to shoot and the locations to go shoe win when you're able to travel. So you're you're living. The dream. Super Hall tried. So it's you know the Celsius so it's it's kind of you don't go out during the day at old. Months. Yeah. Let's switch gears and talk about your work with the ski school in in how that came about and you give me give me a little bit of a background on that project. Right, so I do not philanthropic. Projects. Every. Year. Also parts of the applicable to refers. And, we tend to go to places but this one in particular I'm having because my my husband's boss is from Italy as she was advising the ski school of Cormier in Italy and the Ski Association of Korea. And this guy's premiere. On a brochure were making. She had a look at it and you know they were coming up with ideas and she's like I know this will talk she should come and do this. She doesn't know these projects. So I became involved in just in the year of two thousand and nineteen and we start talking about it. I got really excited because I love skiing and I felt I was heading. Over there to do this project on skis going up in the mountains, but it took so long for us to organize everything eventually on I flew in July of that year in two thousand and nineteen.
"cystic fibrosis" Discussed on Talk Nerdy
"Delaying the book I mean my publisher was very nice You know I said, you know they might get to ninety percent of patients with this nets drug and your eight it's been so excited and so rewarding and and to see these children have a real shot at a at a full life. Now was incredibly incredibly emotional and it was I was just touched that people would let me into their lives and and share that with me. I love it, and you know speaking of strong women everyone. The book is breath from salt a deadly genetic disease, a new era in science and the patients and families who changed medicine forever by Digital Trivedi. Did I say it right? Perfect. Love it. Burn, all about emily can learn about the sisters. You can learn about all of the bad ass physical and women, scientists and philanthropist fighting on the front lines as well as all of these other really impactful characters will vigil. Before we go always close my episode asking my guest, the same two questions, Marie, really interested to hear your to hear responses to them. I would out I'll take that challenge cash core. Yes. So when you think about the future and whatever context feels relevant to you right now I know there's a lot going on in the world right now number one I want to know what is the thing that you're most concerned about you know where are you maybe feeling pessimistic even maybe a bit cynical what's not looking good and then on the flip side of that where you genuinely kind of optimistic what are you truly looking forward to? You WanNa. Know just one thing that I'm pessimistic. Right now. Our Age. Okay. LET'S FOR CITRIC to Let's restrict it to cystic fibrosis into medicines because otherwise I might go off the deep end. You know, what keeps me up at night is you know these this ten percent of patients that don't have a treatment and you know I can't imagine the perspective of somebody who is just sitting and watching and advocating for themselves and fighting but getting sicker day in and day out. That's something that frightens me and it's not just for cystic fibrosis. There are a lot of diseases where this is the case there's not enough research or the research isn't yielding or being translated into a treatment and the other thing you know in that same realm that worries me is you know. When drugs exist and people can't get their hands on them for whatever reason whether it's another healthcare system in a different country or they don't have access to these drugs, their drugs that will fix their element and they either can't afford them or their country has not secured a supply of them. That I find heartbreaking right IT A. Very. It's like the US where.
"cystic fibrosis" Discussed on Talk Nerdy
"Let's get back to the show. Absolutely and you write that now we're at a stage where some ninety five percent of cystic fibrosis mutations have treatments available to them how many different drugs are You know since that I a drug that only treated four percent of cases came about in I think you said two thousand six. Doesn't. It wasn't. It was approved in two thousand twelve. That's right. Right How many since then have we seen become available three? Three hundred. Treat, everything. And what's cool about the lost one there was. Approved is that that drug is It works for most of the population Gotcha. So. It's just it's. It's exciting for those who have treatments, but you know the cystic fibrosis community. Isn't sort of complacent at this point and I think this is something that's very interesting. So they've got this loss between five and ten percent of the population who has a mutation who have a mutation that cannot be fixed by fixing a protein. So maybe the genus so badly damaged that they don't even make a protein. At all or may be such a big chunk of the gene is missing that. What remains is sort of useless. So, for those patients, we need completely different types of therapies. A we're talking. About gene therapies. Amana 'em a therapy which is basically. So a gene makes 'em are a which makes a protein. So basically, you're giving the patients Amarna so that they can make their own protein. So we're going to have to use Fritzy forward looking technologies from this point on to get that loss ten percent or so of patients and I think what's exciting is if they can crack that puzzle for cystic fibrosis, the tools are going to be there for so many other diseases and there are you know they're about seven thousand known rare genetic diseases and cures for less than five hundred of them So. This is technology that will spill over into other fields into other diseases and you know. The cystic fibrosis foundation they really are looking to. Very cut I. Mean I would say bleeding edge science because it's so new. To address this loss portion of the population and you know and help other diseases as well that don't have their resources. Right and I mean one thing that you really do a beautiful job telling the story. That's kind of fundamental to this fight is that you know as you mentioned these patients and their families, their parents really were not just sitting back hoping that science would kind of catch up with their plight like this really is a story of fierce advocacy on the parts of these individuals and as you tell the stories in the book I, I love how you kind of divide the book because you have these individual stories per chapter and they've got dates stamped next to them..
"cystic fibrosis" Discussed on Talk Nerdy
"Fix them. and. Basically, you know a group of chemists and we're not talking thousands of people we're talking like a handful at it at its peak you know maybe about twenty chemists built compounds. Day In day out for years I mean, this is really artisanal chemistry. To builth to find molecule that would actually make this cell behave. Make. The protein behave open enclosed like it was supposed to and they did this you know for five or six years, and they eventually designed a drug that would would help people with a certain type of mutation. So it was years of this, you know. Handful of chemists doing their work at their bench every day in the lab. To, design these molecules and they had lots of fancy tools at their disposal things like high throughput screening to. Test the impact of these molecules but. Ultimately. You know their their hand designed. This is like you know artisanal cheeses. For example, these are seasonal molecules that were built and I think that was really surprising to me because before I started this book I really thought you know pharmaceutical companies can jam add all these molecules. It's a quick process. They had these high throughput tools but this really a story of slow and steady words of. The scientists at the company really getting to know patients in their community learning about the disease and being. So emotionally tied to developing a drug that would help these families and you know there were conversations I had where people would be in tears telling me how frustrating it had gotten at times to develop these molecules. It's just incredibly moving story. How long ultimately did it take from that? I contact you know that first meeting saying, can you do this to having something ready to be tested in you know a group of these children. So the first contact with I think I'm made in about. Nine hundred, ninety eight, and then the first clinical trials. With just a handful of of healthy people you know because they've got a taste test, the safety I with Johnny in two, thousand and six. So that was eight years and then. And then the molecule that they developed was only good for four percent. Of the people with cystic fibrosis. No. So you know they thought okay. We'll test it on these four percent because when we tested in a dish on cells with that mutation, it works great. You know, and this is also a disease. Now, this is this is very unusual, but there was no animal model for cystic fibrosis. So in a lot of diseases, they have sort of an animal to bridge the gap. So you tested on sells you tested on animal if it works in the animal, then you try testing it on humans here. It's unusual. They didn't have that that. Bridge model they didn't have an animal with cystic fibrosis and the reason is no animals that have replicated the symptoms of the disease..
"cystic fibrosis" Discussed on Talk Nerdy
"So he had to think of another strategy so he decided that The cystic fibrosis fibrosis foundation was gonNA raise money through philanthropy, and they were going to try and hire a biotech company to develop a drug that might open this protein and help it behave properly. So basically opened the door and. Everybody initially when they heard this idea thought he was absolutely nuts I mean nobody had designed a drug that could fix a broken prochaine and then you know there was the small problem. How is this tiny foundation which begun you know just as a group of parents and friends in nineteen, fifty, five just you know Parents of sick kids house. This tiny foundation get a raise hundreds of millions of dollars to derive drug which pharmaceutical would company would bother I mean thirty thousand patients this is not a statin drug. For Diabetes, this is not a big disease. So the company. So, Bob Bell pitched this company among many others and at the time it was called Aurora. biosciences was this tiny little company in San Diego, and it was started one of the founders with Roger Chan. He eventually won the Nobel Prize for I'm sure this is something your audience has heard of on the green fluorescent protein on I. Love It. Yes. Oh. He was all into labeling things in cells. So if a drug worked, he wanted the cell to send a chemical signal like a flash of light or some sort of change that we could detect. So his company did all this sort of drug development for other big pharmaceutical companies like Merck You know big big players. And, basically, Bob Bell went to this company and said, you know you think you can make an a drug that will fix a protein. And Roger. Chen thought it was an interesting idea. Brilliant. Guy Real. You know foresight and he says to this Guy Paul Negga Lesku who was you know he knew from. Berkeley, he said, well, why don't why don't you get back to this Guy Bob Bell and see what you think and ultimately they took the project forward in two thousand and one they were. They were acquired by Vertex, and they began the project of seeing whether there was anything that they could do to cells with this mutation the.
"cystic fibrosis" Discussed on Talk Nerdy
"So from what I understand, it's the issue is that most parents have a recessive version of the gene and when not most parents of small percentage parents but the parents who ended up having kids with cystic fibrosis are carrying each the recessive version? Is it ever the case that the parents themselves have cystic fibrosis? No so all the parents are what's called carriers right a carrier has one bad copy of the chain and one good copy for cystic fibrosis. You need two copies of the bad Jane and his mouth from generation to generation. So the tricky thing is you could have someone you could have a family where this gene has been quietly going from generation to generation without anybody noticing, and only when you know two people get together who both have that bad chain. Is there the chance of having a child with the disease right riot and it's ultimately pretty deadly isn't it? It is I mean when it was discovered or characterized by this completely bad ass woman in one, thousand, nine, thirty, eight, it was a deadly genetic disease. I mean, kids rarely made pasta one year old. If, they made it out of the hospital. And you know it is such a a cruel disease that the parents you know when their child did live longer would essentially watch them starved to death because the body isn't able to this nutrients from the food they. So they can eaten eastern eight. They never put on enough weight and they basically waste away. In addition to getting the pneumonias and just the chronic lung infections that basically just lost away their lung tissue. So it's it's a horrible horrible disease. So. Tell me a little bit more about this discovery. I had no idea that it was discovered by a woman especially at a time when probably women were not quite getting the credit that they were do. Oh Yeah. Darcy Anderson and that's putting it mildly. Dorothy. Anderson was this extremely kick ass woman who? was was hoping to go to medical school and become a physician but in the thirties. Women were discouraged from doing that and patients were actually discouraged from seeing women. women doctors had only two specialties they did sort of home hygiene. So how to cook nicely cleanly how to.
Never Be Royals
"It has been the habit of kings throughout the world to hire tasters to test their food on the off chance. Some oppressed masses poisoned it. But Henry, the eighth cast, a wider net with his paranoia. He wanted to be certain. No one was going to poison him transdermal either meaning through the skin. He ordered that every morning, the servant, the WHO changed the kings sheets had to kiss every part of the sheets, pillows and blankets they had touched to prove they hadn't smeared poison on them. They also had to test for poison on the cushion of his son. Edwards Chamber Pot. Though the historic record doesn't say how? My Name's Moxy and this is your brain on facts. The term mad king re entered the common lexicon a few years back. Thanks to George R. Martin's Song of ice and fire books. We'd have more than enough examples from Europe alone to choose from. George. The third born in Seventeen thirty eight was the English king who lost the American colonies. Though anti-monarchists would record stories of bizarre behavior like George Mistaking and trees for Frederick the Great? The king really did have mental health problems that manifested themselves in different periods of his life. During these times, he suffered from insomnia and talked incessant nonsense for hours. It was not uncommon for a single sentence to contain four hundred words. It has long been suspected that King George suffered from Porfirio. A genetic metabolic disorder that causes depression hallucinations, constipation, purple urine, and severe abdominal pain. However, as will come up frequently today new evidence in theories undermined that original thinking. One of the medicines that king was treated with was Gentian. This plant with its deep blue flowers is still used today as a mild tonic that may turn the urine blue. His incessant liquidity as it was called and his habit of talking until foam ran from his mouth are features that can be seen today in patients with extreme cases of mania from psychiatric illnesses such as bipolar disorder. Besides benign sounding herbal treatments, King George would be restrained in a chair with iron straps for hours. He was also bled forced to vomit and starved suffering under the humour old or four humors school, of medicine. A recent study based on the examination of King. George's hair shows high levels of arsenic administered to him as part of the cure, but would have served to only worsen his symptoms. In the last ten years of his life, his son and Heir George, the fourth served as regent. Fans of the show blackadder will remember George the fourth brilliantly portrayed by Hugh Laurie opposite the Tischler, Rowan Atkinson character. A somewhat annoying little side note when the play the madness of George the third was made into a film. In nineteen, ninety four, the title was changed to the madness of King George. Why for fear that American audiences would think it was a sequel and wouldn't go to see it because they hadn't seen the first two. When your business is running countries and even whole empires you WanNa keep that in the family and the best way to ensure that is to make sure everybody marries somebody there already related to. When you say it like that, it doesn't sound like such a good plan. But that was how royal houses conducted themselves for centuries to ensure they retained their fortunes in the days before even a basic understanding of genetics. When close relatives reproduce, it increases their offspring's chances of being affected by. Recessive traits for all kinds of physical and cognitive disabilities, including things like hemophilia and cystic fibrosis, as well as deformities like the Habsburg jaw. These incestuous pairings also run a greater risk of reduced fertility higher infant mortality, congenital birth defects, certain kinds of cancer suppressed immune systems, and overall smaller adult size. A condition referred to as pedigree collapse. Some royal families kept things closer-knit than others. Maria I of Portugal married her father's younger brother Pedro when she was twenty six and he was forty three. Their son and Heir Joseph married his aunt Maria Sister Benedetta. Therefore, Pedro's daughter-in-law sister
"cystic fibrosis" Discussed on Newsradio 950 WWJ
"With cystic fibrosis and I realized I could help others on behalf of all the people we've helped thank you W. W. JT is time to forty eight traffic and weather together on the eight says we hit the roads and start a Macomb county with Tracy and we're watching here through the two filet GM Kansas in an accident they are along I. ninety four in Clinton township and this traffic update I should say sponsored by Greek town casino so here I. ninety four westbound at Harper a crash blocking the right lane and shoulder this affects the exit to Harper is well traffic slower from Schiff wrote better news seventy five north there eight mile road that accident out of the way looks pretty good for now I. ninety four in fifty nine and fifty three and no problems along six ninety six through warranty and the south field the nineteenth annual D. three Greek independence day parade celebrating Greek American culture is set for this March twenty ninth at three PM in historic Greektown Detroit after the parade stop in for fine food and great gaming at Greektown hotel and casino must be twenty one to gamble on the adult on motor group twenty four hour traffic center Tracy because go W. W. J. newsradio nine fifty accu weather's John fear it now excuse me dean devore has our forecast from the family heating cooling and electrical weather Saturday in varying amounts of clouds up to fifty two this afternoon some rounds of showers moved through tonight maybe a downpour and rubble south of the city breezy colder towards daybreak as we get it down about thirty seven and then windy and chilly tomorrow as sunshine mixes some clouds mid forties at best on the thermometer but it'll.
An Interview with Jockey Daniel Centeno
"He's won nearly twenty nine hundred races here in the United States and nearly nine hundred more in his native Venezuela. Many of those wins have come Tampa Bay downs. Where Jockey Daniel? Centennial was in search of his seventh riding title even earned his first ride in a triple crown race. The preakness where we finished eleventh on it always mining all jockeys have obstacles to overcome. That's obviously the nature of the business. But one year ago Daniel Centennial had an even tougher burden to bear in January of two thousand. Nineteen centennial's longtime partner Ashley. George died after a nearly lifelong battle with cystic fibrosis roses. She left behind their daughter. Jasmine who's now in seventh grade. It's tough enough being a single dad and oh by the way Santana also has a twenty year old son son in college but it's pretty tough to work from home when you do what he does. So let's find out how he makes it all work as we welcome for the first time here to win the gate jockey. Daniel Centeno already. A handful of wins for you at the Tampa Bay. Meet a place where you've had quite a bit of success over the years more so than in Maryland where you ridden over the summer. What's been the key to your success in Tampa I dunno being here for light Fifteen sixteen years now for my first time and I I talk like it. I love the weather. I'm never been relieved. Grind with the cold weather. I never try to stay up on the winning thing and I did year by year. You know writing better courses that train and I got to my support here at the beginning from gaming as Kathy O'CONNELL and ride them for their like. WHO So? Maybe you know. Open a lot of a lot more awesome around the track and you know all my area that had been working for Greg to you split you. Year between Laurel Park in Maryland and Tampa. But now I know we're not going to see you what aqueduct in the winter based on what you just said but what made you choose those tracks supposed to say New York or California well because People that are right in for here in Tampa wants to go to Laurel Delaware and the year see bars. So that's like my shadow. God Nora Bill and it's pretty time so I'm really basically driving them. Everywhere are but We're doing good and a lot of oxygen around jockeys are said to have particular writing styles go for example Paco. Lopez takes horses away from the gate aggressively. Everybody knows that likes to go to the early lead. Pat Day was known as wait all day coming from behind. Nine Calvin Burrell is Calvin Bo Rail. You know where he's taking is horses. What do you consider to be your style? Well I I would say eighty two. I like to be more delay but You know it depends on what kind of house I've gone awry but I would like to be close to my thousand dollars outbreak throats to the Leo to pay Being the lead. But it's a defendant to pry. Sometimes you gotTa Jenny a little bit your style to fit all on the horses you know and then workout good too but I'm I feel more comfortable. Really close to the lay or something. That'd be proponent department of your nearly two thousand nine hundred career wins. You've won five grade three races in your career and a single grade to aboard ring weekend in the two thousand fourteen Tampa Bay Derby. You weren't a ride in the preakness as well in two thousand nineteen. What do those kinds of races mean to you? They they mean a lot for me. You know because I can help your mom. I Don t still down so I'd be doing building my curry of keying in this country like little by little step-by-step working hard right in the for different track The Great State for me the main a lot for me you know like I were so hot. And it's like a bay off for my work and I'm never give up and try you know especially luckier when I wrote a pregnant of like a drink of through. You know the the big horse and it would broaden your really good him. Kelly Rowland the ordinary. They give me the opportunity right. Trading is what so I drink too for me. Was it hard not to look around and just take in the atmosphere and instead focus on what you were doing. How hard list to do? Yeah well I come from Venezuela complete different compare here and then you really have to focus at work workout every day so you can get your business and you know doing your job and you know made me thanks you know and then try to cloud what every day. How hard was it making the adjustment from Venezuela coming here as a young man not sure of the language and not knowing what's at your prospects would be? What was that adjustment like well? There's a big chance you know especially with the with the language that you have to really talk to do every body and understand what they wanna tell you frighteners on there. When I was in Minnesota last dot doing English class and private I went to high school and in a private school so when I came back here I can't hear one time? Nineteen Ninety six. So I didn't really good because language I think more mar and then went back to Venezuela so I wanNA come back yet again and and do the same. That's what I do. Day lift classes private and Eleven when again by Two Thousand and three door. Hi You I was big little be I understand a little bit and then I got it your breakfast every day. You're talking every day so make as you Jackie Daniels. Centeno joins us here on the gate. It's been a year or so now. I belief since your partner Ashley George passed away from cystic fibrosis. What was it like losing her? And what's alive. You know US work together for the book thing and we went to a lot of work on every time Fago. What's getting worse and especially my daughter Yachtsman but I'm blessed my daughter's so throng which Banja La doing amazing and Making it every day you gotta be strong for my daughter and then their best for her. Now I believe when you have cystic fibrosis yes you have it almost your entire life so you must have known when you met her that she had this condition. Is that right. Yeah Yeah Yeah keep telling me from the beginning to doing doing okay. But in the meantime wanting her lungs would getting worse and worse than that was boring. They're are there only chantey how they would've transplant. And the medical cameras are not that both longtime plans doing quake and one day. Keep them back home for Halloween. And she that stroke and she was to call my mom to wake like Lamb and never for memory to talk in everything but no memory and keep going. I asked me and see what's in the two years and and doctors say to her body was rejecting everything again and then get get Her body stop working. Did you say she was in a hospital for two years. was that kind of in and out or was she in a hospital all the time time for two years to two years. Happy because you know she can be herself grandma what they get her. I was flying back and forth some time with me to see her but kick No recognize anybody know memories your longtime memories. The more you so I went to Work Yom okay and too much medication So it was really good time for my daughter and either adopt nine so oh my goodness now. It's one thing to being a dad but it's another thing when those kids are both teenagers because says many of our listeners know teen is four letter word I know I have a teenager and yours are on the opposite end of the teenage spectrums. Just when when you finish the teenage thing it all starts over again. How have you been able to manage all of that and your job well? And that's another the team did it. Don't nobody could All I think I'm blessed and my father and me to do everything so and then report report anything. I wasn't never pectin something like that but I was thinking
FDA approves 'breakthrough' drug for cystic fibrosis
"A breakthrough in a drug to help treat cystic fibrosis the federal drug administration approved a new treatment for the disease caused by a defect in a certain protein that causes a build up in mucus that affects the body it increases the risk for infections and leads to diabetes the drug is called try capped a and is approved for patients twelve years and older A. B. C.'s Michelle Franzen has more for people diagnosed with cystic fibrosis the rare disease has no cure just treatment now a new FDA approved drug called try CAFTA is bringing new promise ABC's chief medical correspondent Dr Jennifer Ashton says a target the defective protein that affects the body but there are some risks clinical trial showed improvement in lung function of about ten to thirteen percent some side effects increase in liver function flu and rash and the price tag for this drug three hundred and eleven thousand dollars a year it remains to be seen how much insurance and Medicaid will cover the drug's been approved for patients twelve years of age and older Michelle Franzen
FDA approves 'breakthrough' drug for cystic fibrosis
"New Hope for cystic fibrosis severs the FDA approving a new breakthrough therapy the drug can treat patients with the most common form of the disease which involves a gene mutation that causes a build up of mucous throughout the body ABC chief medical correspondent Dr Jennifer Ashton it's called try CAFTA it targets that defective protein and thought to be a possible option for ninety percent of people suffering with cystic fibrosis who were previously out of options it is approved for patients twelve years of age and older there's no cure for the disease which is rare but potentially life
Vertex prices cystic fibrosis combo treatment at $311,000-per-year
"Right hi let's take a look at New England business this morning this is been a long time coming yeah it's way ahead of schedule at the same time Boston drugmaker vertex pharmaceuticals gets an FDA okay to begin selling a treatment that will impact nearly all patients of cystic fibrosis this approval for the three drug cocktail called trade caffeic comes months earlier than expected the treatment attacks a genetic error in patients leading to the rare lung disease vertex of course is a worldwide leader in the treatment of cystic fibrosis it's already got three other drugs on the market making billions but treating just a minor percentage of patients this drug is also expected to become a so called
Trump administration seeks to deport children with life-threatening illnesses
"Also want to update tonight on a story that we covered pretty intensively intensively last week. This was a story i broken by w._v._u. Our public radio station in boston and by commonwealth magazine in massachusetts was also picked up thereafter by the boston globe and the miami herald then ultimately by the new york times but when this story first broke it massachusetts it was based on a couple of cases that centered around boston children's hospital boston children's hospital really elite children's hospital and it was almost as an unbelievable evil bit of news when this first started to emerge in the northeast last week there had been no announcement about this from the trump administration the only way anybody learned this trump administration plan was unfolding was when individual families started receiving letters from the trump administration that they had no warning of they couldn't believe them when they received them. They didn't know what to make of them. They started to turn to doctors and lawyers and advocacy groups to help for help with understanding what this could mean but the longest shortest the cartoonish lee evil caricatured bottom line of it as we the merged last week and as we reported here on the shell last week is that the trump administration had had somehow figured out a way to zero in on kids with life threatening illnesses kids with cancer kids with cystic fibrosis kids with rare diseases for which they they need specialized delicate advanced medical care of
"cystic fibrosis" Discussed on This Podcast Will Kill You
"Good stories okay so there is so much research that is going into actual treatments and for a longtime longtime all we could do to treat cystic. Fibrosis was treat the symptoms so if you got recurrent respiratory infections you would treat the infection. If you were having having pancreatic insufficiency then you could give them. Maybe pancreatic enzymes okay. It's not going to fix your pancreas but at least you can digest your food but now oh there's all of these new drugs being developed and tested to target the cause of the disease to target the messed up protein itself so that we can fix this disorder from the start rather than just treating the symptoms wow the biggest difficulty is is that because there are so many different mutations there hasn't yet been a single drug or a single intervention that can work for all of the different types of cystic dick fibrosis if that makes sense yeah so has there been any that work for at least one. Oh there's been multiple. Oh good and i do want to say that i am not assisting fibrosis researcher or expert and so i know that there's so much going on that i know i haven't covered it all <hes> <hes> and so for that especially if you research this i apologize if i don't mention your current research but i wanna talk about some of the things that have had the biggest impacts and some of what i think is the coolest and i'm biased because my friend actually did some of this research which is very cool. That's really week four research okay so one new drug that has been developed and works really great for some people and doesn't work at all for others is called. If a catheter have you heard of it <hes> nova catheter. It's such a weird name for drug. This drug works for people with a mutation not the most common mutation but a a mutation that affects about four people living with cystic fibrosis that one of those class three or four mutations that affects the way. The protein works mechanism of the protein so you have the protein. It's not miss formed. It makes it all the way to the surface but it's not not working properly okay. It's called a gating mutation so advocate after can essentially improve the movement of electrolytes lights across this protein it targets this bad getting protein directly and it's really really effective at essentially just allows for the movement of electrolytes how i don't know the details of it erin. That's just i don't understand how so how if these that's when we get too deep into pharmacology that i can't handle. I'm unsatisfied well. You're going to be more unsatisfied okay but it works. The point is that it works if you have very protein but it's just not functioning correctly. It's not getting correctly if a catheter essentially can bind to that protein in a certain way that allows for proteins to allows for ions to move properly across that protein but obviously that's not going to be effective active for people who maybe don't make any cystic fibrosis protein right yeah okay so there's some other options there's two other drugs i think the pace it and luma catheter tease after <unk> and luma after these both are beneficial for the most common mutation of cystic fibrosis..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"Where you can find his latest album titled no god's only monsters so go check it out and you can find him tweeting at all hallows evil okay so the last eighty years of cystic fibrosis have been big via since its first description eighty years ago. Cystic fibrosis has gone from a disease as of relative obscurity to one of the most research genetic diseases out there. The expected lifespan has gone from six months to over thirty years and and so much progress has been made in treatments and potential cures so i'm hoping errand that you'll tell me some good things about cystic fibrosis and gene therapies therapies and other great things on the horizon. I can't wait to we'll take one more short break <music> <music> so overall. It's estimated that the incidents of cystic fibrosis is about one in three thousand among people of northern european descent. It's very high incidence yeah especially usually for an autosomal recessive disorder..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"To talk about about disease or wellness with our limited vocabulary and i don't just mean you in my limited vocabulary. But how do we know like when we say words like this hurts well. How much does it hurt a lot. Okay yeah we can use more descriptive language. We can use a scale from one to ten but like how do you how can you understand a scale. If you don't know what someone's baseline is one person who's like oh. I'm feeling cruddy. Another person might be like oh my god i'm in agony. I'm dying right now extremely painful. I feel like our own baselines. Change over time a hangover at thirty two is a lot different than a hey over. It was twenty two percent variance and there's such a thing as a hangover at twenty two. I don't i don't think so and i think part of this issue with communicating effectively how we feel or what we're feeling is not just with this limited language but also it has to do with the difficulty in relating to someone what it's like to be you to have your experiences in your memories and the way you see the world because that form so much of how we perceive our own selves and it also how we interpret other people's feelings or words words and that's something that i came across many times in some of these memoirs that i read for the episode that for people born with cystic fibrosis basis. They have not known a life without it so they so you. You can't ask them. Hey what's it like to have cystic fibrosis because it's like well. It's this is what i know. This is how i have lived and and also you like it would be like if they asked you. What's it like to not have cystic fibrosis. It would be the same sort of thing. This is what i know you know and so for that reason we can't. I don't know what i'm trying to say exactly so we i think it's it's very difficult to ever or impossible to ever truly understand what someone else is going through or what their experiences are but i think the most important thing is that we need to try cry. We should try because it builds empathy. Another thing that kept popping up in these memoirs was that other people use the cystic fibrosis as an identifier for those people. It's one of the same their identity is cystic fibrosis and that's not what it is is. That's not the case. That's not what it should be and j whom you heard from in the firsthand sheds a little bit were light on what this is like for him and more about who he is so. Let's hear what j. has to say in his own words. I growing up never enjoyed the tone of cystic fibrosis stuff like i never felt like there is something for me and i wondered wondered if there were other people like me out there. I figured there had to be in this writing..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"You might have guessed but how do we know this okay well. We know this for a couple of different. Reasons one is that it has left traces in old european folklore so there's this old commonly quoted prophecy of quote woe to the child who tastes salty from a kiss on the brow for he is cursed and soon must die no way yes. Are you serious yeah so that's like an old prophecy see that's been found in several different. <hes> old boot's several different things like an old <hes> swiss german dictionary it was in an old swiss almanac mc of children's songs and games i so interesting yeah and we also know that cystic fibrosis is old because there is is this description of an autopsy of a quote bewitched eleven year old girl done in a fifteen ninety five and her pancreas was described up to be swollen hardened gleaming white woo so that's a pretty telltale sign of cystic fibrosis as well okay so those are traces braces. Those are written traces right the real smoking gun of cystic fibrosis ancient or i don't know there are lots of clear alive. It lies in our jeans. Okay so as you mentioned. This condition is caused by having a mutation on the c._f. T._r. arching and tracing the geographic patterns of that mutation and variations in that mutation or the types of mutations can tell us a lot about where and when the mutation probably first appeared. I love it so yes. It was an interesting opportunity to dive into some of the genome like evolutionary genetics vettix which i don't not in my wheelhouse whatsoever very fun. Yes very interesting. Bear with me here. We go for a long time. Despite eight the widespread prevalence of this mutation researchers had a really tough time pin down exactly where it began and how it spread so if you look at research from the early two thousands they're like okay so the mutation probably originated anywhere between three thousand years ago to fifty two thousand years ago ago so it's a pretty big frames yeah and the geographic origin was even trickier to nail down the ancient dna analysis of skeletons skeletons from his earliest seven hundred b c. E did find the presence of the mutation in some samples which is amazing. It's i can't yeah very fascinating fascinating but that still left so many questions unanswered until last year i found a recent study published in two thousand eighteen that claims to have resolved some of these long standing controversies erupt about the origin of cystic fibrosis who okay so these what these is researchers did is that they took d._n._a. Samples from people of european ancestry with cystic fibrosis and they tried to get a wide geographic range of people spanning spanning from all over europe then they could compare their d._n._a. Sequences to see when the mutations likely emerged overlay that with geographic ethic information that they had collected and basically they could make this geographic time line of the origin and spread of the cfpb mutation and just one of the mutations mutations or multiples so this is just the most common okay so this is. Let me find out what the number is delta at five. Oh eight the one yeah so yeah so this is the one that's that's the most the most prevalent in the population so it turns out that after they did this they're most likely scenario. Areo is that the mutation this dutta f five eight first emerged around twenty seven hundred b._c. E which is apparently the bronze age. Okay haven't really you learned what that is yet to age of bronze..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"With new gifts. This can end up leading to things like gallstones or stenosis. It can lead to psoriasis which is liver the failure essentially in people with uteruses and ovaries. You can end up getting delayed monarch which is your first period and in people with testicles pickles. It's really common actually have an absence of the vast difference and that's the duct that normally carry sperm away from the testes so that means infertility ability so that's a lot and honestly that's not even all of it because while this protein is most highly expressed in those type type of glandular tissues it's expressed in a lot of other tissues as well and so- cystic fibrosis can end up affecting your bones which can increase the risk of fractures it can increase your risk for anemia kidney stones chronic kidney disease the list kind of goes on it's pretty serious and it kind of it's a whole body eh situation <hes> so because this is a genetic disorder. The onset of symptoms is very very early. So what would that typically look like in an infant. I assume i just love when you you ask questions that are the thing i want to answer next did not rehearse this is not okay so the next thing i want to talk about is how we diagnose how we recognize cystic fibrosis okay nap excellent so with cystic fibrosis overall you have thickened secretions chretien's and a bunch of your organs lung pinker sliver blah blah blah one of the ways that we actually can diagnose it is that you also end up with increased amount of salt bolt in your sweat right okay so right so that's one of the ways that we can actually diagnose cystic fibrosis grosses and nowadays in the united states in much of europe australia canada. We actually do a newborn screen to test for cystic cystic fibrosis because it is such a serious disease such a serious disorder. We test for it pretty much. Every single newborn warn that is born in a hospital gets a little heel prick and we can test for cystic fibrosis gene mutations. You also could do it by testing sweat sweat conducting. Essentially you re test to see how salty they're sweat. Is which i think is just so interesting and cool that we can do that well. It's it's ingenious. Yeah yeah and what's really great is that if you detect it in a newborn then you don't have to wait until these symptoms manifest best to be able to start potentially treatment or at least preventative measures things like that right but if cystic fibrosis is not diagnosed by by the newborn he'll stick then it's often diagnosed in childhood either because someone keeps coming down with recurrent respiratory infections or we're just has chronic respiratory symptoms so we're talking chronic cough signs of obstructive disease that we can see when we do xrays so their lungs will look look like they're obstructed. When we look at an x ray or you can do pulmonary function tests but on a baby. That's pretty difficult because you have to be like now. Inhale and exhale exhale babies don't know those words and is it. Would it also be seen in like a nutritional like. Would it be obvious in terms of malnutrition yeah so on if you on top of the respiratory and sinus symptoms you can also sometimes get very commonly or used to be more common in very young infants something called mccoy neom ilias which is obstruction of the bowels by mucus plug or it can manifest at first with the pancreatic disease which is basically what you said where you have malnutrition and mal absorption and then the child would present with what they call failure to thrive they are not growing properly etc because they're not able to absorb the nutrients that read and so is this something where again if if you're in a place place where it is not standard to do the heel prick test that again the the type of mutation you have my influence when those symptoms emerge absolutely because it's also very possible that someone isn't diagnosed until adulthood especially if they have a mutation that doesn't result in a complete complete lack of the protein but is just one of these dysregulates proteins or a lower amount of a relatively normal protein so oh in those people in adults who are diagnosed with cystic fibrosis..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"Intestines as well and it's the same thing if you end up secreting really thick nick mucus instead of nice clean watery mucus you can blocked ducks in the same way that you block the airways in your lungs but it in your guts in your intestine. That's going to impaired the silia that are also there from absorbing a lot of nutrients so you can actually end up getting malnutrition and things like that <hes> on top of that it can lead to things like gastro esophageal reflux <music> acid reflux essentially and impaired bowel transit so things moving along your gut the way that they're supposed to because ducks are blocked kind of the hallway hollway along so in really small babies especially this can end up leading to intestinal obstruction on top of the mal absorption that you might be having okay so that's in your lungs and then in your guts and then we have your pancreas which for those who might might not remember is very important organ that secretes a whole bunch of enzymes that are important in digestion and it's a very glandular oregon so that me- degree landy. It's very windy yeah. It's made of a whole bunch of glands. What's an example of a non organ. Your heart muscle your heart. Okay not doing a lot of secreting reading. No no okay okay so if you can't secrete these pro the enzymes that normally do digestion then you're not going to be able to digest your food properly essentially and so that's exactly what happens in cystic fibrosis instead of being able to properly secrete these enzymes your pancreas risk is decreasing thick gunky stuff because the electrolytes and water are not balanced correctly and this means that not only can and you not properly digest foods you end up not being able to absorb really important things like fat soluble vitamins because the pink radic enzymes are really really important in fact digestion especially and fat digestion is important in being able to absorb fat soluble vitamins right so it's not just that your intestines aren't able to absorb. It's also that the pancreas is not even able to help you break down what you need to in the first place exactly right and you might also remember that your pancreas secretes other important things like insulin yeah so if the ducks in your pancreas get plugged up an aren't able to secrete insulin then then you can end up getting diabetes and that's actually a really important aspect of cystic fibrosis that i feel like is maybe sometimes overlooked at least just in common parlance. I think most most people think about the lungs when they think about cystic fibrosis but the development of diabetes is a really serious complication as well diabetes basically is just not enough insulin in your body and if you don't have enough insulin then you can't properly regulate glucose or sugar so then you could end up having really really high blood sugars first and then that can kill you okay so in cystic fibrosis what diabetes looks like is a lack of insulin because you're not able to secrete it so so there's a number of different ways that you can get diabetes. <hes> similar things blocking ducks etc can happen in your liver getting plugged.
"cystic fibrosis" Discussed on This Podcast Will Kill You
"You just click on march now and the other thing is that i i saw this on read. It and i just wanted to share this because i was. I was lurking briefly. Even though i haven't been on very much so on the t. w. kyi sub read it they were there was a recent post or post a while back about what what people wanted to call fans themselves what they wanted to call themselves and there were a male. Let me let me pull up some of these things. Actually one of the top ones was filthy animals of course her affect another one vectors ooh amazing erin de miala jests. Oh my god air infected ooh. I like that i love that <hes> extrema files podcast ask phages quarantine scenes respiratory droplets. I loved that. I wanted t shirt. That says that the word that the herd is also amazing so anyway. I just wanted to tell you that amazing yeah. It was very fun but it's really funny any okay any other business. Actually there is one more thing oh yeah. This is our second to last last episode of this season. Oh my gosh it happened so quickly happened so fast and before you get alarmed by that news. We're only taking a relatively short break. We're coming back on october twenty ninth for the premiere of our season three and so- subscribe to all of our social media subscribe to our podcast so that you see when the new episode drops yes and this is second to last. We're not leaving and you high dry. We've got another excellent episode coming out in two weeks. Yes okay. That's everything now. I think so well then let's get started. Tell me about the biology of cystic fibrosis. I can't wait okay good. We'll take one quick break. <music> <music> <music> cystic favorite said this can be a fun one because we haven't done a genetic disorder before so we're going to talk a little bit about genetics before we get started on anything and on top of that we get to talk about bio chem which just for some reason is one of my favorite things to do on this podcast. I guess so yeah. It's a one of my least favorite subjects. Okay cystic. Fibrosis is an autosomal recessive genetic disorder and it can be caused by. I actually a number of different mutations in a single gene so it's always the same gene that gets messed up somehow but there's a lot of different ways in which the gene can be mutated that end up resulting in slightly different presentations of this disease is or disorder so first. Let's define the words. Autism will recessive because some people might have never heard that that basically means that you have to have have two copies of this gene that are mutated in some way in order to actually have symptoms of this disease so if you have just one mutation your what's called a carrier but you pretty much won't have any symptoms or be sick or have cystic fibrosis. You have to have two copies of the gene gene and so that's what autosomal recessive means in this case cool cool. An autosomal just means that it's not in the x or y chromosome. It's in any of the other the chromosomes right okay so the gene that is mutated in cystic. Fibrosis is called the c. f. T. are very creative. Cystic nick fibrosis trans membrane conducted regulator gene okay. It's the cystic fibrosis gene right. This is a gene that codes for the proteins that form channels through which ions pass so this is where we're gonna go a little bit biochem..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"I think something i learned in old swamp. Thing comic is there's. There's some some guy can see the future so that actually don't remember the context of it but i don't think you're supposed to know the way you're gonna die and like that was a very comic bookie saying like oh. I can't tell you how you're gonna die. That will change your whole life but that made me think for a long time because for years i was sure i knew how it was going to die and it's become blurrier now lake. There's a give it like an eighty percent chance that c._f. Kills me. There's a chance that something else could really come in and take the victory from it but it made me incredibly morbid for so long because if i did if i do have a gift or or superpower superpower mine is <hes> for most people comedy is tragedy plus time. I require very little time. I think most things are very fight when they happened to me. Obviously obviously i think most things are very funny right immediately and i think i made my family really uncomfortable with that. My grandmother who was wonderful to me for so many years was also one of those grandmothers. No you're gonna be fine. Everything's gonna be fine like you. Don't know that anything could happen tomorrow and she'd be like no. You're gonna so much longer than me like you. You don't know that she was right but for me c._f. Is a thing that i know. This is the thing that i do. It requires little to no bravery my my part. I just have to keep waking up in doing that. I have no other choice but i think some people don't like to be confronted with the idea that lake their body could go into total rebellion at any point is mind. Constantly really is it's. It's shocking for that. I have a job and again. It's not easy and there's no shame in not having that if you're dealing with c._f. But it's it's shocking for them to see someone. You're doing quote unquote normal stuff while again body total rebellious at any given point and i just think most people don't like to grapple that when it's literally the only thing i want to grapple with is how i'm going to die when it's going to happen what's wrong with me. <hes> no no no no no no <music> <music> and so you just heard from jay durrani who we had the most fun talking to this week the most fun fund he is an amazing author musician and just all around hilarious person and <hes> we have more more of his interview later in the episode so do keep your ears out for that one yeah it was really thrilling to get to talk to him and we can't wait for you to hear here even more of his story and there's one more thing that you should keep your ears out four at the end of the episode and that's a special song written by j specifically typically for this episode. It's called complete semantic rebellion and will provide the link for download in our show notes. I think it seriously might be the coolest list thing to happen on this podcast anyway. I'm erin welsh and i'm aaron almond updike and this is this podcast will kill you and today we're talking about cystic fibrosis. That's right yes. This is our first genetic one. Is that right sure. I'm pretty sure that it is yeah yeah okay. So what are we drinking. This week are according t this week is the dorothy h anderson yes thus named because there was an amazing researcher named dorothy. H anderson who described ebbed. I think was one of the first people to describe cystic fibrosis and did tremendous amount of research in her life on the condition. What is in the dorothy h anderson well. There is pomegranate soda lime juice a splash of ginger ale to keila always good and you've gotta the have it with assaulted rim and we'll talk about why throughout this episode perfect perfect we'll post the recipe for our core intini as well as the placebo rita which is our non alcoholic version on our website and all of our social media channels and let's see we do have a couple of bits of business do <music> game so one thing that i wanted to mention is that hey we have merch..
"cystic fibrosis" Discussed on This Podcast Will Kill You
"If you were having having pancreatic insufficiency then you could give them. Maybe pancreatic enzymes okay. It's not going to fix your pancreas but at least you can digest your food but now oh there's all of these new drugs being developed and tested to target the cause of the disease to target the messed up protein itself so that we can fix this disorder from the start rather than just treating the symptoms wow the biggest difficulty is is that because there are so many different mutations there hasn't yet been a single drug or a single intervention that can work for all of the different types of cystic dick fibrosis if that makes sense yeah so has there been any that work for at least one. Oh there's been multiple. Oh good and i do want to say that i am not assisting fibrosis researcher or expert and so i know that there's so much going on that i know i haven't covered it all <hes> <hes> and so for that especially if you research this i apologize if i don't mention your current research but i wanna talk about some of the things that have had the biggest impacts and some of what i think is the coolest and i'm biased because my friend actually did some of this research which is very cool. That's really week four research okay so one new drug that has been developed and works really great for some people and doesn't work at all for others is called. If a catheter have you heard of it <hes> nova catheter. It's such a weird name for drug. This drug works for people with a mutation not the most common mutation but a a mutation that affects about four people living with cystic fibrosis that one of those class three or four mutations that affects the way. The protein works mechanism of the protein so you have the protein. It's not miss formed. It makes it all the way to the surface but it's not not working properly okay. It's called a gating mutation so advocate after can essentially improve the movement of electrolytes lights across this protein it targets this bad getting protein directly and it's really really effective at essentially just allows for the movement of electrolytes how i don't know the details of it erin. That's just i don't understand how so how if these that's when we get too deep into pharmacology that i can't handle. I'm unsatisfied well. You're going to be more unsatisfied okay but it works. The point is that it works if you have very protein but it's just not functioning correctly. It's not getting correctly if a catheter essentially can bind to that protein in a certain way that allows for proteins to allows for ions to move properly across that protein but obviously that's not going to be effective active for people who maybe don't make any cystic fibrosis protein right yeah okay so there's some other options there's two other drugs i think the pace it and luma catheter tease after <unk> and luma after these both are beneficial for the most common mutation of cystic fibrosis..
Genetically Modified Viruses Help Save A Patient With A 'Superbug' Infection
"For the first time. Scientists have used genetically modified viruses to treat a patient fighting a life threatening superbug infection NPR health correspondent, rob Stein. Has the story is it bell. Cornell Holdaway was born with a lung disease called cystic fibrosis when she was fifteen a nasty infection started spreading through our body after she got a double lung transplant in London. Nothing could help her not antibody. Nothing. Her mom, JoAnn says the doctors told her there was no hope devastated to be told. You know, we could well be burying all child was just anyone has a child and never expects to have to bury them this this selves. But then is false doctors decided to try something out of the box therapies called Phages their natural enemies of bacteria. So the doctors found Graham hatful, he's an expert on phases at the university of Pittsburgh using genetic approaches with genome engineering were able to assemble this collection of three Phages that we could then combine tile to use the treatment, they know infect the kill efficiently. People have been treated with Phages before with mixed results. But no one had ever tried infusing genetically modified Phages into someone's body. It's kind of a scary thing to go in and administer treatment. Like this full, which we're completely on new ground. We don't know what to expect. Isabelle's doctor started infusing about a billion Phages into her body twice a day and held their breath. There's lots of things to worry about. And so the very first thing was, you know, does something does anything bad happen. But nothing did. In fact, Isabel started to recover she got stronger and stronger and Isabel who's now seventeen is living in almost completely normal life driving lessons. A school making fake city pool. God ning. No. Now, doctors aren't sure exactly how the Phages might have worked and is about is in cured. She still needs to get fade infusions every day. But the infection appears at least to be under control. I think it's amazing. It kind of shows there is completely. No limit. Until they can come up with really her. Mom, agrees them to be able to just have a little fiddle around with these Phages moins blowing valley when you think about it. Stephanie drafty studies Phages at the university of California San Diego. This is actually a historic moment. Fades therapy, seems to be the most promising alternative to anti-biotics that's on the scene. And this is the first time that genetically engineered fade has been used to successfully treat a superbug infection. Anna human being so strategy and hatfill hope this is just the beginning. What can we do for example to extend this to other types of diseases? The most obvious one is closest which is caused by a related bacterium, and that causes a lot of disease, and that's across the world each year and this very prevalent, drug resistant, strains that are very hard to treat. Now, this is just one case. And a lot more research is needed to see how well phases, including genetically engineered Phages really work, and if they're safe, but with superbugs on the rise and biotic losing their power. Researchers hope Phages could help save more
Phages, Graham Hatful And Rob Stein discussed on Fresh Air
"For the first time. Scientists have used genetically modified viruses to treat a patient fighting a life threatening superbug infection NPR health correspondent, rob Stein. Has the story is it bell. Cornell Holdaway was born with a lung disease called cystic fibrosis when she was fifteen a nasty infection started spreading through her body after she got a double lung transplant in London. Nothing could help her not anti-biotics. Nothing. Her mom, JoAnn says the doctors told her there was no hope devastated to be told. You know, we could well be burying all child was just anyone has a child and never expect to have to bury them United the selves. But then as doctors decided to try something out of the box thyroid is called Phages their natural enemies of bacteria. So the doctors found Graham hatful, he's an expert on phases at the university of Pittsburgh using genetic. Approaches with genome engineering were able to assemble this collection of three Phages
Box Office: 'Dumbo' Lands at No. 1 With Soft $45 Million
"I'll look at what was big at the theatre box office is this weekend. From USA radio's Wendy king. A former Disney animated feature is brought back to life. The remake of Dumbo is number one coming in at forty five billion the scary picture directed by Jordan Peele us is number two at thirty three million slipping down the number three captain marvel starring Brian Larsen and Samuel L Jackson is that twenty million coming in at number four the romantic novel about cystic fibrosis five feet apart is at six million. And at number five that true story of what happens to a Planned Parenthood clinic director, the movie unplanned comes in at six point one
'Captain Marvel' soars with stellar 2nd weekend at US box office
"At the box office. So you're not from around here. It's hard to explain. Shining all other movies this weekend at the box office, captain marvel can then at number one starring Breen Varson and Samuel L. Jackson, total sixty nine million dollars. Number two. The new animated feature Winter Park at sixteen million the romantic comedy about a couple of with cystic fibrosis five feet. Apart comes in at number three with thirteen million. How to train your dragon the hidden world drops down to number four at nine million and another sequel from Tyler Perry and the family funeral drops down the number five with eight million
'Five Feet Apart' Review: Ailing Teenagers Live Dangerously for Love
"Now we're talking about movies. Tim's website is celluloiddreams dot net. So Tim what have you seen? I think there's one that reminds me of another movie that came out a few years ago at least in the description, it's called five feet apart. Isn't there something like that that had to do with these teenagers? Oh, the one about. Yeah. Piece distinguishes itself because well, first of all begins and ends with a speech spoken by one of the leads a teenager played by paley Richardson, who has cystic fibrosis, and it's a rather inaugural speech about the importance of touch. You know, how we as humans need it as much as the air, we breathe. So this is a story it's romantic drama about two teenagers who have cystic fibrosis. The other one is played by Cole sprouse. How'd you like to have a name Cole sprouse? I'm sorry. I didn't change that name probably not any way to teenagers with cystic fibrosis. They fall in love. And the tricky thing about people afflicted with this diseases. They can't touch each other for fear of some kind of potentially fatal bacterial infection that can be transferred from one to the other. Anyway, patients with this disease. They have to stay at least six feet away from each other and the title here five feet apart. I think. Is something that the two characters come up with it has a little risk factor involved because of another speech somewhere that one of them gets about a certain amount of or certain element of risk being necessary to look, and I really wanted to like this movie. I went in there expecting to because the distributors CBS films has been responsible for releasing some really good movies over the years. Like last year's it turned east gate and the first half hour is actually quite good. When the impossibly cute characters are introduced in the plot points of what I just talked about worst stylish in the narrative, and you learn about cystic fibrosis by watching this film. So it has that going for it. But the movie about half an hour into it it descends into this truckload of cliches repetitions on this team of I love you so much. I wish I could just touch you and literal hysterics about death and dying in survival guilt. So you know, when it didn't try it was kinda sweet and charming and the actors were all good. But when it tried it became borderline I rolling, and it was probably the least favorite of all the films. Yeah. I know the script was just it lack. I think it's strictly a movie for teenage girls, and maybe a teenage gay boys because our female protagonists would know it has a gay best friend. Fibrosis right is a good line in the film. Pat smoke is spoken twice. Did they say it's just life? It'll be over before you know, it, and that's kind of how I was feeling about the movie. It's just a movie it'll be over before you know, it. All right. Let's skip that one then that's five
What are the potential health benefits of gene editing?
"Last year. A Chinese scientists shocked the world by disclosing hit created the world's first gene, edited babies, and John Ahuja talks to Robin level badge a developmental biologist geneticist about the controversy and about the potential for easy to use gene editing, tools such as crisper Cas nine to revolutionize diagnostics, drug discovery and the treatment of disease. Everybody has become very familiar with the story of the gene edited babies that came out from China last year. So these were apparently, the world's first genetic babies created it really triggered a scandal. Do we know what's happened to the scientist and author the twin baby girls that have been born? We know nothing new particularly drunk you. Hey, all vote voters JK is currently in Shenzhen where here's university is. I think he's in a an apartment owned by the university and the stories in the Chinese press that the gods. What we don't know who those gods are whether the university outs police, whoever they are. We don't know whether he's under house arrest or whether he's free to move around. He actually emailed me and said, he's all. Fine. So the impression is I think he's trying to give me that he's not under arrest. So the goals may be that to protect him because I know he was receiving threats during the become fronts that we had last hole. I can say he's fine. About the welfare of the twin girls. Lulu a Nana be concern. We know nothing about that. Jake himself was very keen to stress that that privacy should be maintained that they should be protected and density, not known on. We'll this likewise their parents. There is an investigation being launched in China by the ministries of sciences on administrative health. They presumably will want to find out whether what he's claimed to have done is actually the case. And so they would need to take DNA samples from the two babies, and the parents, but I hope they do it in a sensitive way. These are just two little babies. They should be cheated just as that and not subject to anything bad at all. They have novel mutations in this, gene L five, which is known in some cases to confer protection, it mutations in that gene can confer protection against HIV. And that was the rationale behind the work. But Jake I did was to try and make these children immune if you like to HIV because having trophy in China of even being a member of a family where one of the family members house HIV as in this case, it's cheap very badly. Families the stigmatized the children wouldn't be allowed to play with other children simply because of that for example. So that also sized about another reason why the density needs to be protected because of that situation too. But we hope is that they will teach it to normal little girls. And that's it. They have mutations in the gene that novel mutations because of the way he did the dean of editing quite poorly. We have no idea what those mutations will do but all of us have mutations. Every new generation that forty two eighteen you mutations in genome. So just treat them like normal children. Keep a watching eye on them. See what happens say watch this space on the genus babies story. But of course, may scientists involved in genome editing, as you prefer to call it on not involved in trying to change the course of human evily Shen by creating these genetic mutations or changes that will then be passed on down the family line, as I understand it the real excitement for genome editing is in the lab working with adult patients, perhaps with single gene disorders also excitement with drug discovery and so on so let's talk about that. Because I know that you were involved as developmental biologist in the aren- decide of things does your work focused on the creek. We have a number protecting many projects, but let me decide about one of them jeans have to pulse to them. They have the part that encodes the protein is going to do its job for it. But it also has a part but controls when and where that gene is active so normal genes, right? Even all cells over time, they all cell type specific, and they can be. Stage of development specific they can be on the active of particular time in the embryo or any adult we've been using the genome editing methods to try and understand bisect light. This regulatory region for some jeans and one in particular, cold sulks nine so soaks nine is gene that has many roles in developing embryo, but one we'd been working on for a long time as its role in sex determination. So whether you become male-female soaks nine is really critical to give rise to the development of testes particular cell type was critical for making tested so mutations in soak nine can lead to sex reversal to give ex wife female development instead of male development. But it's a really complex gene is active in many different cells. And it turns out that it has an enormous regulatory region, which is really complex and we wanted to try and dissect that say you have specific sequences you can refer to enhance or sequences where other proteins transcription factors in Toronto. With those. To tell the gene to be active or silent. And so we had fun using variety of methods number of candidate regimes run home of for soaks nine in the process of making testes we had about thirty two different candidates. We started with and we use number methods to try and reduce that number down. We came down to four but looked like they were very promising, and we use genome editing methods to inactivate each of those in enhances and turn to basically delete each of those regions of DNA intern unfound one of them, which is located very long distance away from the protein, coding Potter, gene itself. Some six hundred fifty thousand base pairs away which is big distance. When we did he should that particular in Holzer it inactivates, the, gene. So we got X Y females. So even though you have this really complex regulatory region. Spread over many millions of base pairs and stuffed full of different regulatory regions. Turns out, but just one was essential for expression in the developing gonads said that they can rise to test. What's the next female? They are crumbs Emily mail voicemails scream saying about they've developed as a female in this case in the embryos. They are indistinguishable from normal females stabbed genotype female genitally. This is women. They have the mice. Not women they develop his females in humans, of course. Yes. You would also have cases where you have extra female development. So they look female, but chromosome Yuda male. They will be infertile because the germs house of the eggs in the next female that do very well, they get lost early on. So they will be infertile. But otherwise, they look and generally behave and all female month thing, I should ask you to do been is to explain very briefly. What's crispy cast Moines editing, as can you tell us how the crisper cast nine genome editing system works, very briefly, please, okay. It relies on making breaks in the DNA usually a double strand break in the day, and to do that you have an enzyme called cows nine, but you have to have a way of getting not enzyme to the right place in the genome. And that's the guide are a component. So the RA you design it part of the irony is designed to be complementary. So to match up with the DNA sequence that you want to cut the other part of the RA guide are on a has a sequence of interacts with the cows nine enzyme protein. So when you have both together, and you crisper is not linking crisper yours. Crisper is a shorthand term for the guide our nights for the irony. The name crisper comes from origin. Bacteria is not really relevant to. Use to the guy Rene takes the Cas nine enzyme to the right part of the genome. The enzyme an cups, the DNA and processes that occur in also to repair broken deny then jump in and try and repair it now in the simplest form of technology. You just making a break in the DNA actually, Germany making a mutation in a gene, you have a process called known homogeneous end joining horrible term, but it basically just tries to stick the broken ends DNA bound together again, but often you have a little mistake made and that can be sufficient to an activator, gene. This is incredibly useful in the lab for studying gene functions say rapid and easy. Now, if you want to make them more precise alteration in the genome sequence DNA sequence on that can be anything from a single letter up too, many many thousands of letters of code then you have to use a different DNA repair mechanism cold Hamasi directed repair. This requires a third. Component to be introduced to the time time, which we confined to his DNA template. So this has to pulse. Each end. You have a bit of DNA, but complementaries of that's the same as the gene in which you want to talk it. And then in the middle. You have a sequence that you want to replace the one that's in our ready with and if you have those three components together. Now, the cows names aren't the guide our day on the DNA template the direction repair mechanism will not work, and it will substitute. What was in old template into the gene it is quite an incredible technology in it? There's a third method which I wanted to tell you about which is really exciting, which is cold base editing. Now, this allows you to change one base pair one letter if you like in the code, but it works without making a double strand, cutting the DNA, it changes chemically if you like one letter to another then it's partner also then has to change. Change. Otherwise, you have a little loop in the DNA, and that relies on a different type of DNA repair maximum to do a little bit. But given that about half of single, gene disorders or calls. In fact, by single base pair changes mutations in the DNA, this new methods looks really promising because it doesn't come with the baggage that some of the other methods have of creating unwanted mutations. So you get just what you want. So it could well be about safer method at least when you're dealing with single based mutation. Tell me how genome editing is being used in the lab, and perhaps with patients, it's really exploded. In basic research. The use of genome entertain particular the crisp cows nine methodology, it's very easy to use. That's one reason relatively inexpensive to use. But it's just so powerful and it's a rapid. So we've had ways of altering genes in cells in coach. Uh-huh. Or in model animals that we use for research like mice methods to alter genes in many years for decades, but they will always very inefficient very slow to make a mouse carrying specific mutation in a particular, gene, it really used to take well over a year to do that we cannot do it in the motto of a couple of months. So it rapidly speeds up the way that we can do research to study the role of specific genes or pulse of genes during development in my case or for physiology over brain function, or in cancer, it's really speeded up things enormously and made it cheaper in terms of things like the possibility of using genome editing to treat patients who already have a genetic disease or council something like this again, that's really looking incredibly exciting. We've had some somebody, gene therapy. Also for decades, just explain what semitic therapies somatic cells are. Basically any sewn in the body apart from the jumps health germ cells being themselves who are going to give rise to sperm or eggs that would allow any genetic changed repulsed on to subsequent generations. So a typical somebody will be a skin owl muscle tell or bone cell brain zone. So there are whole ranger Nettie disease is that can compromise. The ability of particular cells to function or the politics function things that the blood'll sickle cell disease will be catalyse Mia, you have disease like cystic fibrosis or muscular dystrophy affect lungs muscles opticians, in many cases, these G two single mutations Chinga, gene. It's affected by small mutation affecting that, gene. So the genome editing methods can be used to correct, gene defects, or in some cases, find ways around of getting another gene to become active to replace the gene that's not working. There are now probably around twenty or so clinical trials that had been launched. Using the female amenity methods to try and treat individuals who have think disease of this soaks. I'm single, gene defects.
Serena Williams Sports Gatorade Dehydration Patch
"Business wars daily is brought to you by Pitney Bowes, and send pro online shipping can be complex with the uncertainty over costs and deciding which carrier to use plus tracking your packages things can get confusing. Stay tuned to the end of the show to find out how Pitney Bowes and send pro online can save you time and money and to get a special offer just for listeners of the show. From wondering, I'm David Brown. And this is business wars daily on this Friday January eleventh. Serena Williams is analyzing her sweat while playing tennis in the latest ad from Gatorade. The tennis star sports. A patch that passes sweat through food coloring giving an instant easy to read picture of hydration or lack thereof when colors on the patch change. They signal levels of dehydration sort of like a mood ring for electrolyte loss. Williams told fast company, she was excited by the promise of the new wearable technology to extend athletes careers, the patch invented at Northwestern University and developed with Gatorade sports Science Institute has been tested by professional, athletes and college swim teams. It's also being used to test babies for cystic fibrosis. The patch is the latest volume Gatorade attempt to rebrand itself. From a sports drink to a spa. Ports fuel from something. You might want to something you have to have Gatorade holds about three quarters of the eight billion dollars sports drank market. So why go to the trouble inexpensive developing sophisticated wearable technology. Well, Gatorade needs some fuel of its own. The brand sales have been slowing lately as consumers turn away from sugary drinks in favor of more natural beverages. That trend has also hurt. Gatorade rival Coca-Cola which owns PowerAde last year. Trying to solve that problem. Coke took a stake in body armor, the up and coming sports drinks startup is backed by basketball star Kobe Bryant body armor uses coconut water, which the company argues is not only more natural than its chemical heavy competitors. But also lower in calories the brands market shares tiny, but it's been growing faster than either Gatorade or power aid for Coca-Cola investing in body. Armor represented a move into the future for Gatorade. It's packed system is also seizing on the opportunity to evolve Gatorade says a retail version of Serena's sweat patch costing three to five dollars will be on the market soon. And that may signal even more about Gatorade future as a brand marketing health technology that just happens to come with sweet drinks, the think about that. The next time. You're practicing your serve. From one to read this business wars daily pay fascinated by the long running battle between coke and Pepsi. Check out the whole story in our six part series on business wars, this week's episodes were written edited and produced by lane Appleton grant, Ginny lower is our editor and producer our executive producer is Marshall Louis reated by or non repes- for one. I'm David Brown. We'll see next. Shipping can be complex with the uncertainty over costs and deciding which carrier to use plus tracking your packages things can get confusing. Now, there's a better way to ship central online by Pitney Bowes with simple online. You can easily compare USPS and other shipping options in an all in one online tool, you can print shipping, labels and stamps on your own printer and track all of your shipments as well. Plus when the US postal rates increase on January twenty seventh you'll still be able to access savings of up to forty percent off USPS priority, mail shipping and five cents off. Every letter you send just by using central online. Simple online is only fourteen dollars ninety nine a month, and you can get a free thirty day trial. When you visit PBA dot com slash b w daily. You'll also receive a free ten pound scale to help. You weigh your packages and accurately calculate the cost of shipping. That's PB dot com slash. WD early and big thanks to Pitney Bowes in central online for sponsoring this show.
Inhaled RNA Might Help Heal CF
"This is science Americans sixty seconds science. I'm Christopher Dodd Yata. Genome is sorta like a library with each gene and instruction manual for making proteins, the bad news is you can't return a book and take out a new edition. But the technique of gene therapy allows you to revise your copy of the book, so to speak giving you the ability potentially to make new in different proteins now scientists have experimented with a new way to make text revisions by inhaling the changes they tested the concept by having mice breathe in genetic material called messenger. Aren a or m Aren a for the test. The Amarna included instructions to manufacture Luciferian the stuff that lights up in firefly's. The researchers packaged the Marna with a degradable polymer to trick the mices lung cells into accepting the package, and once the cells gobbled it up they began to glow proving that inhaling 'em are in as an effective way to kick. Start the production of new. New novel proteins like the firefly enzyme. The scientists also repeated the experiment in mice who sells had been genetically engineered to turn permanently read if they received a copy of MR in a making it possible to count the proportion of cells affected by a dose. The proof of concept is in the journal advanced materials, of course, the point of all this isn't to make mice glow. Instead one idea is to use this technique to help cystic fibrosis patients because people with CF have genetic mutation that causes a build up of sticky mucus in their lungs. Several of the study authors work with publicly traded biotech company called translate bio and that companies conducting phase one in two trials to determine if inhaling messenger are in a could provide a genetic fix for cystic fibrosis, regardless of the particular case of CF, the Luciferian example shows that inhalation genetic therapy could be an inspiration. Thanks for listening for scientific American sixty seconds science. I'm Christopher Don. Yada.
Multi-gene test may find risk of heart disease and more
"Researchers have developed a, new way to analyze genetic data AP's Jackie Quinn reports it may one day help, identify people at high risk of combinations like heart disease and diabetes genetic testing right now mostly focuses on rare mutations like ones. That can cause breast, cancer sickle cell disease and cystic fibrosis now research With
Vertex gets approval to treat toddlers with cystic fibrosis drug
"For the first time. Ever toddlers will be able to take a medication for the treatment of the most common form of cystic, fibrosis the FDA approves. The drug from. Boston's vertex pharmaceuticals to, treat, kids between the ages. Of two and five they drug is already on the market for older children the. Approval based on the results of a pivotal, clinical trial of the drug or Camby
"cystic fibrosis" Discussed on WDRC
"And press both the dan and myself is that you are working on and this will be a big success in xinjiang berry you are working on a benefit for the cystic fibrosis foundation how come that particular organization well a friend of our family sign has cystic fibrosis and it's always been important to our family to support such a wonderful cause and for me it's so important because i'm a singer i have my lungs and their powerful and their big and the fact of being born with horrible lung issues and infections and end a chance that i wouldn't live that long i'm i'm twenty eight some of these people's lives are so short ed it's such an important caused make sure we can raise money to help these people live longer and it it that's wonderful that's fat and all the proceeds from this event will be donated to the cystic fibrosis foundation is that right that is correct everything at tickets only 20dollar yes so take us through the night what what's going to unfold could it be friday august the 25th right correct bury us seven o'clock yes well it's going to be first off there will be candlelight not real keddell edelbe fake had we're not very real fire at sage i it is an interesting event we're going to have have there will be some opera obviously as a may um there will.
"cystic fibrosis" Discussed on The IVY Podcast
"Cystic fibrosis foundation pretty much knows every family in member states kid with cystic fibrosis i never knew anybody with cystic fibrosis after a high school is they're all dead i haven't woman worked for me ten years ago she was thirty she has said that there are she's like twenty actresses an office i said tell me about your wife says take twenty five he said all agassi i play rugby has the gas copenhagen earlier next day on the phone call system and she's on the call andrew i she says oh by the way is our union i assisted by roses present back in my office i said earlier this morning i just ask you got your wife mention do you realize that nine wounded buddy your age as preparations for mild down because they died at fourteen you're twenty in your life expectancy now does worry is not even all the top of your excu who ns progress because the cystic fibrosis foundation raise money from all those families and invested small biotech they've got bigger vertex and with vertex developed the first drug id twenty years to ensure cystic fibrosis in his segment of the population cystic fibrosis check for their share of the world of that droid they invested nine hundred fifty million a fifteen year what did they get three point three billion pak which is twenty years of donations to assist offenders from partnering iranian patients families who would lead the kid to those charts and that's why the small companies are the answer because patients thumped in their eyes they do with small companies look at the except when i was adviser i said fired you need to take money from the small donations.