Podcasts about Euan Ashley

American professor of medicine

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Euan Ashley

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Best podcasts about Euan Ashley

Latest podcast episodes about Euan Ashley

The Genetics Podcast
EP 184: Rethinking speed and scale in clinical genomics with Euan Ashley of Stanford University

The Genetics Podcast

Play Episode Listen Later Apr 24, 2025 42:56


This week on The Genetics Podcast, Patrick is joined by Dr. Euan Ashley, Chair of the Department of Medicine at Stanford, founder of various biotech companies, and author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them. They discuss Euan's groundbreaking work on ultra-rapid genome sequencing and how widespread sequencing, wearables, and AI could shape the future of preventive medicine and human performance.Show Notes: 00:00 Intro to The Genetics Podcast01:00 Welcome to Euan01:50 A pivotal case in Euan's career involving diagnosing a newborn experiencing cardiac arrest06:41 How Euan's team worked towards a record of eight hours from clinical sample to diagnosis10:05 Hurdles that need to be overcome before ultra-rapid sequencing workflows can be widely used in clinical settings11:40 Considerations around widespread genetic screening in newborns16:10 Weighing utility and uncertainty in genetic testing for disease19:17 Steps to a future where widespread genetic testing is economically viable 23:54 New frontiers of clinical genomics, including integration with electronic health records (EHRs) and wearables  28:24 The physiology and genetics of athletic performance and the inspiration behind the ELITE study33:54 Psychological drivers and effects of human performance37:57 Euan's interest in generative AI for developing novel therapies41:32 Closing remarks Find out moreThe Ashley Lab (https://ashleylab.stanford.edu/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

Target: Cancer Podcast
Why Waiting for a Heart Attack Is Outdated—with Dr. Sanjay Juneja [Full Podcast]

Target: Cancer Podcast

Play Episode Listen Later Apr 24, 2025 52:16


What if your smartwatch could detect a heart condition before you ever felt a symptom? Stanford cardiologist Dr. Euan Ashley reveals how AI and wearables are quietly reshaping the future of healthcare, from spotting silent strokes to redefining what “normal” health looks like. Why do we service our cars and inspect bridges, but wait for our bodies to break down before acting? That question sets the stage for a deep dive into proactive medicine, where tools like the Apple Watch are already catching atrial fibrillation early, and continuous health monitoring could alert us to problems years in advance. Beyond the wrist, AI is transforming everything from clinical documentation to access to specialist care. But big questions remain: Can algorithms be truly equitable? Will personalized prevention ever reach everyone? From ambient AI scribes to the end of “one-size-fits-all” medicine, this is a glimpse into healthcare's next chapter, where your heart might be talking long before you notice.

PBS NewsHour - Segments
How exercise may be the 'most potent medical intervention ever known'

PBS NewsHour - Segments

Play Episode Listen Later Jan 1, 2025 7:36


It's been well known for many decades that exercise provides many benefits to our health. But a new scientific consortium is revealing new insights into just how profound exercise can be for the human body. William Brangham discussed more with Euan Ashley, a professor of cardiovascular medicine and genetics at Stanford University and the newly named chair of its department of medicine. PBS News is supported by - https://www.pbs.org/newshour/about/funders

PBS NewsHour - Health
How exercise may be the 'most potent medical intervention ever known'

PBS NewsHour - Health

Play Episode Listen Later Jan 1, 2025 7:36


It's been well known for many decades that exercise provides many benefits to our health. But a new scientific consortium is revealing new insights into just how profound exercise can be for the human body. William Brangham discussed more with Euan Ashley, a professor of cardiovascular medicine and genetics at Stanford University and the newly named chair of its department of medicine. PBS News is supported by - https://www.pbs.org/newshour/about/funders

Move to Live®More
Investing One Minute in Exercise for Five Minutes of Extra Life

Move to Live®More

Play Episode Listen Later Oct 29, 2024 32:13


An interview with Dr. Euan Ashley, Chair of the Department of Medicine at Stanford University.I mean, it's really my favorite fact of any fact in the world, and it comes up because a lot of the time, and you just made this point well, that people feel they don't have time to exercise. And I get that. And there are lots of ways we can think of helping people answer that question, but, but the way I usually start, which I'm not sure what they think when I tell them this, but, but it's the way I usually start, is by telling them that you definitely have time to exercise, because data has clearly shown that one minute of exercise will buy you five minutes of extra life.Dr. Euan AshleyExercise as the single most potent exercise intervention ever knownReasons for the underprescription of exerciseMotivation for studying exercise as a medical intervention Molecular Transducers of Physical Activity Consortium (MoTrPAC) goalsMolecular map of the body's response to exerciseSupercharging research on exerciseReturn on investment in exercisehttps://www.movetolivemore.com/https://www.movetolivemore.com/bookhttps://www.linkedin.com/company/move-to-live-more@MovetoLiveMore

The Doctor's Art
At the Edge of Precision Medicine | Euan Ashley, MBChB, DPhil

The Doctor's Art

Play Episode Listen Later Sep 24, 2024 67:30


Precision medicine — the approach to health care that involves tailoring medical interventions to an individual's genetic makeup, environment and lifestyle — promises to deliver the right treatment to the right person at the right time. From preventing diseases decades before they appear, to specially designed cocktails of cancer drugs, to genetic modification of rare diseases, many of these applications sound straight out of science fiction. At the forefront of precision medicine and medical genomics is Euan Ashley, MBChB, DPhill, Chair of Medicine at Stanford University Medical Center. A cardiologist and intensive care physician by training, Dr. Ashley has pioneered the use of genetic sequencing to identify risk factors for heart disease and new treatments for rare diseases. He is also the author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them (2021).Over the course of our conversation, we discuss his path from growing up in a small Scottish town to now working at the cutting edge of medicine, the excitement and fulfillment he experiences as a clinician in the cardiac intensive care unit, remarkable patient stories of healing and resilience, the future of precision medicine, why he is optimistic about the development of artificial intelligence, and more.In this episode, you'll hear about: 2:24 - Dr. Ashley's path to medicine and to cardiology 7:19 - What life is like working in the CCU21:34 - How the Undiagnosed Diseases Network was founded and what it does33:22 - An overview of precision medicine38:09 - The impact that genetic testing and genomic medicine is having on modern medicine and where it could go from here 45:00 - Dr. Ashley's thoughts on how AI will change the field of medicine 51:40 - Making access to medical advancements in AI and genomics more equitable 1:04:39 - Dr. Ashley's advice for healthcare professionals in training Dr. Euan Ashley can be found on Twitter/X at @euanashley. Visit our website www.TheDoctorsArt.com where you can find transcripts of all episodes.If you enjoyed this episode, please subscribe, rate, and review our show, available for free on Spotify, Apple Podcasts, or wherever you get your podcasts. If you know of a doctor, patient, or anyone working in health care who would love to explore meaning in medicine with us on the show, feel free to leave a suggestion in the comments or send an email to info@thedoctorsart.com.Copyright The Doctor's Art Podcast 2024

Plain English with Derek Thompson
"Exercise May Be the Single Most Potent Medical Intervention Ever Known"

Plain English with Derek Thompson

Play Episode Listen Later Aug 30, 2024 60:21


Exercise is a conundrum. On the one hand, physical activity is clearly one of the best interventions for preventing physical disease and mental suffering. On the other hand, scientists don't really understand how it works inside the body or what exactly running, jumping, lifting, and squatting do to our tissues and organs. That's finally changing. Euan Ashley, a professor of genomics and cardiovascular medicine and the chair of the Stanford Department of Medicine, is a member of a new research consortium that studies rats and humans to understand the molecular changes induced by exercise. Today we talk about the earliest findings from this new consortium, how exercise might have disparate effects in men versus women, why nature's most effective cardiovascular intervention also seems to be nature's most effective mental health intervention, as well as whether it will one day be possible to identify the molecular basis of exercise precisely enough to develop exercise pills that give us the benefits of working out without the sweat. If you have questions, observations, or ideas for future episodes, email us at PlainEnglish@Spotify.com. Host: Derek Thompson Guest: Euan Ashley Producer: Devon Baroldi Learn more about your ad choices. Visit podcastchoices.com/adchoices

3AW Breakfast with Ross and John
Adding minutes to your life with Dr Euan Ashley - 'whatever is difficult, is good for you'

3AW Breakfast with Ross and John

Play Episode Listen Later Aug 8, 2024 35:57


It turns out not only can anaerobic exercise be very good for you health, but it can even add minutes to your life.GUEST: Dr Euan Ashley, physician, scientist, and author based at Stanford University in California where he is Associate Dean in the School of Medicine.What are you recommending?EMAIL: rossrecommends@nine.com.au Follow Ross:X - x.com/RossAndRusselFACEBOOK - facebook.com/3awbreakfastSee omnystudio.com/listener for privacy information.

Ross Recommends
Adding minutes to your life with Dr Euan Ashley - 'whatever is difficult, is good for you'

Ross Recommends

Play Episode Listen Later Aug 8, 2024 35:57


It turns out not only can anaerobic exercise be very good for you health, but it can even add minutes to your life.GUEST: Dr Euan Ashley, physician, scientist, and author based at Stanford University in California where he is Associate Dean in the School of Medicine.What are you recommending?EMAIL: rossrecommends@nine.com.au Follow Ross:X - x.com/RossAndRusselFACEBOOK - facebook.com/3awbreakfastSee omnystudio.com/listener for privacy information.

Ground Truths
Euan Ashley: Exercise may be the single most potent medical intervention ever known

Ground Truths

Play Episode Listen Later Jul 5, 2024 48:18


Recently, a series of papers were published in Nature and Nature journals illuminating the physiologic effects of exercise from an NIH initiative called MoTrPAC. To understand the wealth of new findings, I spoke with Professor Euan Ashley, who, along with Matt Wheeler, heads up the bioinformatics center.Earlier this week, Stanford announced Evan Ashley will be the new Chair of the Department of Medicine. He has done groundbreaking work in human genomics, including rapid whole genome sequencing for critically ill patients and applying the technology for people with unknown diseases. A few years ago he published The Genome Odyssey book. As you'll see from our conversation, he has also done extensive work on the science of exercise.Video snippet from our conversation. Full videos of all Ground Truths podcasts can be seen on YouTube here. The audios are also available on Apple and Spotify.Transcript with audio and external linksEric Topol (00:06):Well, hello, it's Eric Topol with Ground Truths, and I'm really delighted today to welcome my friend, Euan Ashley. He is the Roger and Joelle Burnell Chair of Genomics and Precision Health at Stanford. He's done pioneering work in genomics, but today we're going to talk about something very different, which he also is working in exercise. Exercise the cover of a Nature paper in May regarding this MoTrPAC, which we're going to talk about this big initiative to understand the benefits of exercise. But before I hand it over to Euan, and I just want to mention his description of the paper that he posted to summarize started with, “Exercise may be the single most potent medical intervention ever known.” So Euan welcome.Euan Ashley (01:01):Yeah, well, great. It's wonderful to be here, Eric, and so nice to see you.Eric Topol (01:06):Yeah. Well, we have a lot to talk about because exercise is a fascinating topic. And I guess maybe we'd start with the MoTrPAC, which is an interesting acronym that you all came up with. Maybe tell us a bit about that with the 800 rats and the 2,400 people and the 17,000 molecules, there's a lot there.Euan Ashley (01:24):Right, right. Yeah. Well, first of all, of course, before you do any scientific study, especially with a large number of people in a consortium, you need a good acronym. So that was where we started with the idea was to focus on the molecular transducers of physical activity. As you pointed out there at the beginning, we really don't have a more potent medical intervention, especially for prevention of disease. I mean, it's just such a powerful thing that we have, and yet we don't really understand how it works. And so, the MoTrPAC Consortium was designed to really work together, bring groups of people across the US together who all have some interest in exercise and some ability to measure molecules and really put together the world's largest study of exercise to try and start answering some of the questions about where the potency of this intervention come from.Eric Topol (02:20):So the first crop of papers, and there were several of them that came out all on the same day in Nature publications, was about the rats. The people part is incubating, but can you give us a skinny on, there was a lot there, but maybe you could just summarize what you thought were the main findings.Key MoTrPAC FindingsEuan Ashley (02:43):Yeah, of course, of course. And the MoTrPAC Consortium, I'll say first of all, yeah, large group is probably I think 36 principal investigators funded by the Common Fund. And so, it brings together large numbers of people, some of whom who spend most of their time thinking about let's say animal exercise. Some have spent a lot of time thinking about humans in exercise and many of whom think about measuring technologies. And as you say, these first group of papers were focused on the rat study, but actually the study goes much more broadly than that. But of course, there are some advantages to the animal protocols. We can look at tissue and we'll talk about that in a moment. But the humans, of course, are where we're most interested in the end. And we do have tissues coming from humans blood and adipose tissue and skeletal muscle, but those are obviously the only organs we can really access.(03:31):So there's a rat study, which is this one we'll talk about, and that's aerobic exercise and training. There's human studies that include aerobic exercise, strengths studies as well. There's a study in kids, pediatric study and then also a study of people who are very fit because here we're focusing on the change from sedentary to fit. And so that gives us the key exercise signal. So this first crop of papers was really our first look, cross-tissue, cross multi-omics, so multiple different modalities of measurement. And I think, yeah, we were like about nine and a half thousand assays, 19 tissues, 25 different measurement platforms, and then four training points for these rats. So let's talk about the rats for a minute. What do they do? So they normally live at night. They're active at night. In this study, we reverse that so that we can actually do the studies during the day.(04:25):So we reverse their at night cycle and they do their treadmill exercise over the course of several weeks. They start with about 20 minutes, and they do more every day. There's a control group of rats that just get placed on the treadmill and then don't do any exercise. And so, this is a controlled study as well. And over the course of time, we work more, it's about eight weeks in total and then two days after each of those bouts of exercise. So it's not an acute study, we measure to see where we are. So we also have this time trajectory of exercise. So what did we find? I mean, I think the first thing I would say, we talked about just how potent exercise is. It's very, very clear from looking at all these tissues that when you exercise regularly, you are just a different person, or in this case a different rat.(05:15):Like literally every tissue is changed dramatically and some in quite surprising ways. So I give you a couple of the things that surprised me or that I thought were most interesting. The first thing was this question of how does exercise actually work? Because exercise is a stress. You go out and you pound the pavement or you're on the bike or whatever, and then your body recovers. And so, there's been this idea, it's referred to as hormesis, this idea that some of the benefit of exercise might come from this recurrent stress. So your body learns how to deal with stress. And so given that we were very interested that this heat shock response was so prominent across multiple tissues. So heat shock proteins are molecular chaperones and they take care of protein folding to make sure it's appropriately done and they prevent protein aggregation. And when proteins need degraded because they're damaged, the heat shock system jumps in.(06:10):So perhaps not surprising, but pretty interesting that the heat shock proteins were very prominent part of the stress response to exercise. And remember, this is not acute exercise, so these are benefits that are built up over time, so that was one. A surprising one to me, the adrenal gland. So we're used to thinking of adrenaline as an epinephrine, as a stress hormone, but actually we saw dramatic changes in the adrenal gland and we don't necessarily think too much. You think about the exercising muscles, you think about the heart, we think about the lungs, when we think about exercise, you don't necessarily think that you're changing your adrenal gland, but it was one of the most changed tissues. The immune system was a common upregulated system. We saw that. And in fact, some of the tissues in which the immune genes were most changed were somewhat surprising.(07:02):So the small intestine, for example, was a place where there was a highest enrichment of immune mediated pathways. And then some tissues changed pretty early, like the small intestine changed after just one or two weeks of training other tissues like the brown adipose tissue. It was more like seven or eight weeks of training before we saw the real changes in there. So just one or two little things that struck out, but I think this really the first molecular map of exercise. So we're looking across the whole system across multiple modalities of measurement across multiple tissues.Simulating StressEric Topol (07:34):So as far as understanding the benefits of exercise, does this tell us that it really does simulate stress that it's conditioning the body to deal with stress as reflected by the various points you just summarized?Euan Ashley (07:51):Yeah, I think that is exactly right. I mean, part of what we were trying to understand was in what way are you changed after you do exercise regularly? And I think if we think about things that are positive, then the ability to deal with stress at a cellular level, quite literally repair mechanisms seems to be a big part of it. The other aspect that was interesting is that when you're measuring this many analytes, you can also compare that with disease. And so, we understand that exercises is preventive benefit against disease. So in some cases, and this was work highlighted by my colleague Maléne Lindholm in the mitochondrial paper that came along with the main paper and she looked with a team across all mitochondrial changes across all of the tissues of the cell. So these are the workhorses of the individual cells that like the batteries inside the cells of the mitochondria.(08:54):And we saw big changes across, it's not surprisingly, but it's the energy source for cells, big changes across many tissues. But interestingly for two specific really important diseases, a liver disease in one case and type 2 diabetes on the other, it was very clear that the training upregulated a network that was exactly the opposite of that of the disease. And so, it really was intervening in a way that was very specifically opposite to the way we know disease mechanisms go. So it does seem like, I mean people talk about an exercise pill. I think this shows that that is just not going to be possible. There may be ways we could mimic some elements of exercise, but there's no pill. This is a multisystem, multi-tissue, multidimensional response to exercise.Eric Topol (09:44):Yeah, I think it's really important. That was one of the questions I was going to ask you is whether this would ever be simulated by a drug. And I think you already answered that, and the fact that it's so comprehensively sweeping across every organ and all these different signals, tens thousand plus signals across them, it's really striking. We never really understood the benefits of exercise and not that it's all resolved by any means. Some of the things that were interesting too was the sex specific findings. Maybe you want to comment about that because we don't spend enough time thinking about how sex does have a big effect on physiology.Sex-Specific FindingsEuan Ashley (10:24):Yeah, I mean that's a really good point and one that I think was really underlined for us at every corner, every turn of the analysis here. So really no matter which measurement modality, no matter which tissue, no matter which point of training, if we just asked these computer models to sort of separate the data according to the prominent signals without giving it a clue of what to do, the so-called unsupervised models, then sex basically came out every single time. So I think you say you're absolutely right that we so often overlook the difference. For years we've said, oh, it's too expensive to do animal studies in both sexes, so we'll just pick one. And males were picked more often. But there are plenty of studies that were just females, and I mean that clearly is wrong, and we are really, sometimes it appeared like we're almost dealing with two different species.(11:18):They were so different. But I think we can also learn from what those differences were. Interestingly, some of them were most profound in adipose tissue, so in fat, and that was the case both at rest, sedentary and amplified by exercise. So we saw big difference between females and males in relation to the kinds of signals that were prominent in the white adipose tissue. So this fat storage tissue, for example, in sedentary females, insulin signaling and the trigger to make fat and store fat was very prominent. But whereas in the males, even before any exercise, the fat signals were more related to metabolism, and we could have wild speculation about in evolutionary terms why that might be. Obviously, males and females have different biological many differences in their biology and obviously thinking about hormone systems and specifically pregnancy of course. And so, we could probably come up with some theories. In reality, all we know now are these observations were found and they're pretty interesting and they show us that we really always need to think separately about both sexes and look at both independently.Eric Topol (12:39):Well, and the other thing that you already pointed out, but I just want to underscore, you can't do this stuff in people. You can't just do fat biopsies and whatnot. So I mean, the fact that you can do this multi-omic, multi-organ type assessment is just really an extraordinary opportunity for learning. And while we're on the white fat story just briefly, we would rather have a lot more brown fat, but as we age, and I assume it's the same in rats, they don't have much as they get older brown fat. Does exercise help us get more brown fat or are we just stuck with the white adipose tissue?Brown vs White FatEuan Ashley (13:21):Yeah, well, it certainly allows us to have less of a white adipose tissue, and I think it's potential that our brown adipose tissue maybe more functional, and for those who are listening who are not familiar, I mean these really are different colors that relate to the actual color of the tissue, but the color is different because the brown adipose tissue contains lots of mitochondria and lipid droplets, and the brown adipose is there to help essentially generate heat. It has a very different function in a way, but even white adipose tissue that we think of as just being about storing energy, people think of fat as a very metabolically neutral or inert tissue, but in reality it's not. It's signaling. It's constantly, it's a tissue that's as alive as any other and not just a storage for excess energy, but exercise definitely appears to alter both in this sexually dimorphic way as we noted already and clearly both in a positive health way where I think the makeup of the brown tissue is different. The white tissue, there is less of it obviously with exercise, which is something that is well known, but not new here for the first time. But still important to have seen that even in the rats.Eric Topol (14:49):And there's even, we talked a moment go about drugs, but there are some molecules that are thought to be able to help convert white to brown fat that are understudy and we'll see if they get anywhere that's interesting. But also, you talked about aerobic exercise and with us both being cardiologists, and I know throughout my earlier part of my career, we only talked about aerobic exercise. There was no such thing as strength training, and we even discouraged that or we never talked about it. Now we know how important strength training is and not just strength and resistance training, but balance and posture and all these other things. I assume you can't study that in the rats.Euan Ashley (15:32):Well, it's not impossible. This study of course is about endurance, but as you say, and there are some models, I mean I've even seen models in trying to trigger flies to do strength training.Eric Topol (15:46):Wow, I didn't know that.Intensity of ExerciseEuan Ashley (15:46):That somewhere, yeah, we'll have something, there are various methods of making animals hang off things, and this was treadmill. So it's a fairly routine and standard I think part of a rat's life to run. So this was not so different. As we mentioned at the beginning in the human study, we do have a strength portion and the endurance portion, which I think is very important because as you say, the benefits of exercise are found really across both of those. And indeed, as you say, flexibility and other often neglected element of physical activity. But yeah, those benefits are there for both aerobic exercise and endurance. And in fact, they are perhaps even higher for higher intensity exercise. Although I think we don't necessarily recommend everybody do higher intensity exercise. I don't think it's necessary to get most of the benefits of exercise, but there is some additional benefit.(16:42):One of my favorite facts, I think I first saw it probably on a presentation a few years ago, but I looked up the original and recalculated it. But if you look at this very big study of half a million people and look at their physical activity over the course of years and correlate it with their likelihood of being alive or being dead, then it was clear that one minute of exercise bought you five minutes of extra life. And I just thought that was just a really interesting way of putting it essentially. And actually it's a little more, if you did high intensity exercise, one minute would give you seven or eight minutes of extra life. So I tell this to my patients when they come in and tell me they don't have enough time to exercise. I said, oh, well, one minute of exercise. I'm not very popular when I tell them that, but anyway.Eric Topol (17:30):You think it's true. Do you think it's based on good data?Euan Ashley (17:34):Well, the data is large, I mean half a million people. I think we've also seen it currently since the early fifties when we were first doing the London bus conductor study that Jerry Morris did that you will know well, where he compared bus conductors on the London to the bus drivers and found a significantly reduced cardiovascular mortality among the conductors because they were on their feet all day up and down stairs and the driver otherwise in the same environment the drivers were sitting. So I think we have a wealth of epidemiologic correlative evidence that exercise leads to a greater length of life, greater longevity, maybe more than for anything else. The causal evidence is less of course, but we do have causal evidence too. There are enough randomized trials and now increasingly some genetic causal evidence that helps us understand that this is really a causal link and that we actually can change our outcome if we do additional exercise.Mental Health BenefitEric Topol (18:32):Oh, and I don't question at all what you said about the enhancing healthy aging health span and even possibly lifespan. I just wondered about the one to five ratio if we could assert that. I mean that's really interesting and it's a good motivating factor because as you well know by that WHO criteria, one out of four people aren't even close to the modest exercise recommendation. So we got ways to go to get people to spruce up exercise. Now speaking of people, I do want to come back to MoTrPAC and the people plan, but I do want to before that get your sense about a couple of really fascinating studies. So earlier this year there was a study of every exercise study that's been looking at mental health along with SSRIs that name drugs that are used for mental health. And it was a pretty fascinating study. I think I'm just going to pull it up. They looked at everything that this is for depression, walking, jogging, yoga, strength training, SSRIs. And what was fascinating is that dancing, walking, jogging, it made the drugs look like a joke. They didn't seem to work at all. So this was 218 studies with over 14,000 people. And so, I don't know that enough people recognize this fact that this Prozac nation and all this stuff about the SSRIs, but exercise seems to do wonders for people who are depressed, anxious, stressed. What do you think about that?Euan Ashley (20:26):Yeah, I mean it's exactly right. I mean I think that it's very clear from the data and as you mentioned, you and I tend to focus first on the cardiovascular benefit, which is very significant, potentially 50% reduction in risk, but there are similar sorts of numbers when you look at mental health and exercise as an intervention for mental health has been very well studied and has these really dramatic benefits. And I think even if we go in the more general population and think about the fact people talk about a runner's high or an exercise high, and many, many of us, myself included, feel that. And a few years ago, I started exercising every morning and now if I don't do that, I really feel like I'm missing something, there's something in the chemistry of my brain is not quite right. And so, I think that benefit for those who have mental health issues is also very much felt and is real at the brain chemical signaling level and with this few adverse effects as exercise has, I do think we need to think of it earlier and more prominently for almost every disease.Eric Topol (21:40):Yeah, you're I think alluding to the opioids that are released with exercise and addiction to exercise, which is what ideally if everybody could be addicted to exercise, that might help a lot of things. As you mentioned in your post that I started with, “its benefits in prevention outstrip any known drugs: 50% reduction in the cardiovascular disease, 50% reduction in risk of many cancers, positive effects on mental health that we just discussed, pulmonary health, GI health, bone health, muscle function. You name it.” So you said it really well there, and that was just one recent report that substantiated the mental health. I want to also mention another report that's fascinating on cancer that is a publication again recently was looking at both mice and people with pancreatic cancer. And what was fascinating about it is the more exercise of the mice and in the people, the more survival that is from pancreatic cancer, which as we both know and all the listeners will know, is that one of the worst cancers of humankind. So the affecting cancer is fascinating. Now can you dial up your immune system response with exercise?Euan Ashley (23:02):Yeah, I think you can. And I think we were at some level expecting to see it because it's certainly a known thing, but I think again, this is able, our ability to measure it in this study is just much deeper than we've ever had in any study before. And so, I think when we think about mechanisms that might relate to reduced risk of cancer, as you say, we think first of the immune system and that signal was there in many places. As we mentioned at the very beginning, sometimes to me in some slightly surprising places like the small intestine, we don't think of that necessarily as the seat of immune activation, but I think what we were doing, what we were seeing is those signals really across all the tissues and ultimately the immune system is a distributed system. It senses in multiple places and then obviously has implementation.(23:53):Now exactly in what way we've turned up our T or B cells, for example, to be able to attack those cancers or support the therapy that's been given. I don't think we understand that yet. But actually, you bring up another great point, which is part of MoTrPAC was to create this molecular map and analyze it and put the first analysis out there. So that's what we've done, but just as big and maybe even a bigger reason is that to release the data and to make it accessible for everyone and anyone in the world as of the moment this paper came out can go to our data portal at https://motrpac-data.org/ and download the data and then use that in their own work. They can do their own analysis just of this data, but also what we're hoping is that they'll start to use the data, let's say as control data for a cancer study or for a diabetes study or for others. So we really hope it'll fuel many, many more studies over many years from now.Eric Topol (24:52):Yeah, I mean that open science approach to applaud that it's so vital and amplifies what's good to come out of this really important initiative. Now you mentioned the opioids and proteins that are secreted with exercise, exerkines is a term that's used and also I guess these extracellular vesicles (EVs) not electric vehicles. Can you tell us about exerkines and EVs and are they part of the story?Euan Ashley (25:25):Yeah, and actually in the human study there's a specific exosome analysis that will be reported there. Yeah, I think that when we think about this multi-system nature of exercise, and one of the fascinating things was to be able to have these omics in multiple tissues and think about how those tissues were signaling to each other. So obviously there are some tissues that are more fundamental to the exercise response. We think of those as the skeletal muscles. They literally the effectors of our ability to exercise. And I think we think of the heart and lungs in particular in the blood system of course, but we were seeing changes everywhere and it's one of the reasons we were seeing changes everywhere is that there are molecules that are essentially secreted into the circulation or locally by these exercising muscles, exerkines that have a number of positive benefits.(26:21):And it is possible if there's some mechanism towards mimicking some of what exercise does with a drug, then that's a good place to go look for it. And I think that this will also fuel those thoughts. I think we both, we'd agree that there isn't going to be one pill that will do all the magic of exercise, but I think there are probably things we will learn from the study where we say, well, this was a very positive benefit and it seems to be mediated by this particular molecule, and that's something that could potentially lead towards a more targeted drug. I think we'll definitely get into that and understanding just we're systems people are, again, I think we think in physiology, so when we see the tissues like connecting and communicating with each other, I think that just makes a lot of sense from a systems perspective.Eric Topol (27:10):Now getting onto the forthcoming work that's going to come out with the 2,400 people and the different groups that you mentioned, I wonder if it'll include things like biologic aging with DNA methylation, will it have immunomes to characterize the differences in the immune system? What kind of things might we expect? Obviously, you can't get tissue, but for blood samples and things like DNA methylation, can we get some more illumination on what's going on?Euan Ashley (27:41):Yeah, I think we can. And of course, ultimately the human is the organism we're most interested in. Interestingly, I'll say interestingly as well, we can get some tissue and huge credit to both the investigators who are doing this and most credit of all to the individuals who agreed to join the study because they actually agreed not just to give blood samples, but actually to give skeletal muscle samples. So a biopsy of the skeletal muscle and a biopsy of the fat pad. So we will actually have two other tissues in the humans, not this obviously vast range that we talked about with the rat study, but we'll have those two other tissues and we'll also then have the rat data, which is the other great thing. So we'll have this foundational insight that we can then bring to the human study with the humans as we mentioned before as well, we'll have not just endurance but strength trained, we'll have it in kids as well, and we'll have these higher intensity exercise.(28:36):I think we will be able to connect with this, as you mentioned, longevity literature or the health span literature where we can start to think about DNA methylation. We do have genomes of course, on all of the individuals. It won't be a study powered because it's thousands individuals, these kinds of numbers. It won't be powered to give us genetic predictors. If you think about the studies had to be hundreds of thousands of people and even more now in order to give us, let's say common variant predictive. So we won't be able to do that, but there's lots of connections we'll be able to make by being much closer to the effector systems, which is to say the proteins and the metabolites and those signals we're already seeing are very significant. And so, I do think that there'll be a lot of new signals that we'll see that are specific to humans that will connect into other bodies of work, for example, the longevity, and we'll see those in blood and I hope that we'll be able to connect also the skeletal and adipose tissue data as well.Eric Topol (29:37):One of the things that would be wonderful to connect if you can, our mutual friend and your colleague at Stanford, Tony Wyss-Coray has these organ clocks that have been validated now in the UK Biobank, and then you can see what's happening with the wealth of plasma proteins that have been validated across each organ. So without having to do tissue, you might get some real insights about organ clock. So I mean, I'm really looking forward to the people part of this. When do you think the next wave of output's going to come from MoTrPAC?Euan Ashley (30:11):Well, I think that another element of the study is that we have ancillary studies, so investigators who said, I want to be able to use MoTrPAC data and use some of the infrastructure, but I'm looking for funding for my parallel study. So some of those ancillary studies will start to come out over time, which I think will be interesting and will be a very good place to see the breadth of activity that has been triggered by this one investment. The human study is coming along. We're actually just now plotting the last two or three years of the consortium. Time has really gone by pretty fast, and we've had to scale back just a little bit on the total numbers of humans, but it should still be, I think probably the largest multi-omics study of humans that there has been. And I think if we were going to plan one of those, then planning it to study around exercise definitely, definitely makes sense. So there is some data that was, of course Covid happened in the middle of this, so that was a major challenge with hitting the original numbers. But there's some data from the humans who were recruited before Covid hit that will be coming out and hopefully in the relatively near future. And then the big study may still be a year or two away to get it finished. But after that, as we say, we hope that the data and the science will continue for I hope decades beyond just the collection of this repository.Eric Topol (31:41):That's great. You mentioned Covid and I did want to ask you about the folks with Long Covid who are suffering from fatigue and exercise intolerance and what do you think about this kind of vicious cycle? Because if they could exercise, it could help them get into a better state, but because of not being able to, it's just a negative feedback loop. Any thoughts about that?Exercise and the Immune SystemEuan Ashley (32:13):I mean, it's such a good point and it's one of course that we talk to many of our patients where they, for whatever reason, sometimes it's because they are struggling with weight or they're struggling with other mobility challenges, and now we have this very large population who are struggling with fatigue. As you mentioned, it's a group that we were somewhat familiar with because of flu and because EBV and other, I mean long syndromes were something we were familiar with. They were just kind of rare, and so there wasn't really much work done on trying to understand them. Now as you've, I think articulated better than anyone, we have this entire population of people because of the scale of Covid who have these symptoms that are recognizable for the first time and including on your podcast, you have had folks on that have discussed it. Some of the insights that have happened from actually applying science, I wish there was an answer that was buried here in MoTrPAC and maybe there is, there will certainly have data from before and after the pandemic and maybe there may be some insights that we can bring to that.(33:20):I certainly think we have a lot of insights on the interaction between infection and the immune system. We talked about the potential for the immune system to be ramped up in that potentially being one of the mechanisms through which this might help cancer. There's also the idea of, and we've seen this with the effect of vaccination on Long Covid, which perhaps surprisingly does seem to have a significant benefit for at least a group of people. The assumption there is that we're ramping up the immune system and it's having that extra effect on whether it's actually pools of hidden antigens that are hidden from the immune system or whether it's some other element of the kind of ensemble attack of the immune system that is related to the symptoms. But either way, I think we feel that having a more ramped up immune system is likely to be beneficial, but at a very real human level, the point you made is the hard one. If you're really fatigued and you just feel you can't exercise, then these benefits are just out of reach and you're in this negative feedback cycle and breaking that cycle is hard. I think we try to suggest people do it very gradually because you can get a lot of benefit from just a little exercise and that's something, so that's some way, and then hopefully people can build up slowly over time, but it's a really big challenge.Eric Topol (34:43):I hope we can crack the case on that because I know that's something holding these folks back and there's just millions of them out there. Now let's talk about the healthy folks that you see in clinic. What do you advise them about exercise besides the fact that one minute we'll give them five minutes, but do you advise them to have X amount of aerobic and X amount of resistance and in the general person, what would you tell them patients?Euan Ashley (35:13):Yeah, yeah, I do. So I suggest habit is everything. So I suggest to people that they exercise every day or take one day of rest because I think there is some benefit with the stress response and having a rest day. So I suggest five or six days a week if possible, trying to get into a habit of doing it. So pick a time that works for you. It could be first thing in the morning, could be last thing at night. The jury's out on when the best time to exercise is. What it's very, very clear is that getting the exercise done is what counts. Accumulating time is also what counts. I mean, if you're not someone who wants to pull on running kit and go out running, that's fine, but accumulating steps, accumulating physical activity and moving is key. So not having people overshoot being too ambitious, but if they're really motivated to do something, then I would say five or six times a week a combination of both aerobic and endurance exercise and strength.(36:07):Usually I suggest two to one in favor of aerobic exercise, but it's also possible I think to alternate and do more 50/50. I think the key is that both are featured and then I think a bit neglected because to be honest, our data on it is just not as good, but flexibility is really critical and particularly in the senior population and for a group who sit all day long, I think for those two groups in particular, flexibility is really under-recognized as a major component. Even in my cardiology clinic, I've helped several patients just get over their back pain by teaching them some back stretching exercises. And so, I think that's neglected. So I suggest all three of those and really it's whatever works for the individual. I think the key is to find, it might be working in a group format, it might be going to a gym, it might just be taking regular walks. The key is to get moving and not sit. Get moving and do it regularly and get into the habit.Individualized Exercise?Eric Topol (37:09):Yeah, and actually on that point about potential individualization in the future, I noticed that you and some people that worked in your lab and others, Svexa is a company you started for exercise. Can you tell us about that?Euan Ashley (37:26):Yeah, this was a PhD student who was in my lab many years ago and was doing his PhD joint between the Karolinska Institute in Sweden. And of course, the country of Sweden has a long history of exercise physiology, science, and as he came out, we realized that there was the potential for optimization of training for individuals, whether they're recreational athletes or elite athletes in the Olympics. And he was interested in taking this and running with it, which he did. So the company originally Silicon Valley exercise analytics, but shortened now to Svexa builds, builds products to help people basically individualize their training. And we work, say with recreational athletes on an individual basis, we work with a lot of Olympic athletes in multiple countries and the technology building the sort of magic sauce that many of these coaches even up to and including Olympic coaches have into a format that can be spread and amplified to many more people is one of the themes.(38:29):And when we think about professional athletes and the company works with a number of well-known brand name teams that are in soccer leagues and in national football league here in the US and really across professional sport, what we're thinking of there is optimizing performance. Of course, all the teams want to win, but reducing injury is the other key part because the management of load, these are professional athletes, they're getting up every day in training and they're trying to optimize their training and their coaches are trying to do that. And it's been a fairly data free zone over the years, but meanwhile, we actually have learned a lot about how to measure individuals and how to measure what training works, and if you think about a team that might be paying 20 million a year for their star player, if that player gets injured, that's a pretty expensive thing. And so, investing a little bit in understanding the training load, helping the coaches understand the data, and then adapting that to each individual in the team so that their chance of injury is lower. That's really a lot of what the company spends its time thinking about.Eric Topol (39:36):Now, do you use sensors like lactate and glucose and AI of their body and how do you figure this stuff out?Euan Ashley (39:45):Yeah, all of that is possible. It's interesting, some sports have a kind of culture of measurement. For example, lactate measurements, which as your listeners will know, is it requires a small blood sample usually from the finger or from the ear lobe. Some sports like swimming have done that for years. But other sports, it's just not been so much in the culture. So I would say that from the company perspective, we work with whatever data is available and we'll make recommendations if people want to think about wearable devices. Of course, the digital era is around us, and you can get a lot from just a standard watch in terms of heart rate, heart rate variability in terms of accelerometry and movement. You can do a lot with just that, but there's lots more. Many of these teams have GPS signals so they know how far an athlete moves in a given game, how fast they move, how much time they spend at tool speed versus medium speed.(40:37):So we can use all of that. And as you say, yes, AI for sure is a large part of what we do and a couple of different ways actually. One is just for the analysis of the data, but another is this idea of scaling expertise. This is something in the AI community. I know you talked about a lot where you could take the expertise of let's say a physician with a very specialized practice or an Olympic coach for a marathon runner and basically make a language model that contains that expertise and then allow many people, thousands of people potentially to benefit from that expertise that we'd otherwise be sort of locked up with next available appointment is 18 months down the road, but if your AI can potentially reflect a lot of what you have, a lot of your expertise, not all of it, we hope, but probably a lot of it, then that expertise could potentially be offered much more broadly. And if it's to help people exercise more and more effectively, it's going to be a lot of good that I think can come from that.Eric Topol (41:33):Yeah. No, it's really interesting. I think there's unlimited opportunities there. It's like Moneyball to the 10th power. It's like all this data that's in sports that gets me, I guess to the last question I had for you, and that is the elite athlete or athlete hard. These are people that are working out endurance just to the max, these extremists, and they're prone to heart issues like atrial fibrillation. Why is that? What's going on with these people that they exercise too much? Is it just the lack of moderation, extremism or what's going on?Euan Ashley (42:10):Yeah, well, so it's interesting that of course you mentioned atrial fibrillation. I think that really is the only downside of exercise, even fairly extreme exercise that I've ever been, I think that we've ever had really good data for. And I would say that over the years, and I've been one way or another touching the exercise science world for 20 years and more now and certainly have been asked very often, surely these people are doing themselves harm. And the reality is, although every now and again there's a study that shows some harm or they measure troponin, they measure something in the blood and someone says, oh, they must be doing themselves harm. It's been very hard to find it. The reality is atrial fibrillation though really is, especially for those ultra endurance athletes, that's for real. And that is, we don't know that it's associated with a mortality impact necessarily, but it's definitely annoying and it slows down.Endurance Athletes and Atrial Fibrillation(43:03):We have athletes who come in and say they're cycling up a hill and suddenly they drop their power drops and they realize they've gone into atrial fibrillation. I used to play basketball with someone who would go into atrial fibrillation, so I would know when to try and get past him once he went into atrial fibrillation. But that's a real thing, and I think one of your questions was why I think I have a lot of close friends who are ultra endurance runners. They're among some of the most chilled and happiest people I know. I think those benefits of exercise are what they're enjoying, and I think there's a literature on addiction to exercise. So there is a small number of people who get addicted to that feeling and addicted to the chemical matter in their brain and can't stop, and they really do get to the point of doing themselves harm.(43:53):Fortunately, I think that's a pretty small number. And overall, although there are many consequences of chronic long-term exercise, almost all of them seem to be positive. The other one that you and I are probably very familiar with is the calcium scans that we see now much more often, it's common for people who've exercised a lot to have more calcium in their hearts. Now they have a lower risk of that. They have lower risk of heart attacks in general, one or two studies muddied the waters just a little. But in general, it's very clear they have very positive health benefits and yet they have more calcium. So they are an exception. We've seen in our sports cardiology clinic here at Stanford, several athletes every month, several will come in with this finding and we are explaining to them, this doesn't mean they have the same risk as someone who hasn't exercised at that level who would have that calcium score. It does seem to be very different, and it may be that there's a stabilization of those plaques in the arteries. I don't think we understand the biology that well, but we understand the epidemiology quite well, which is that their risk really is still low.Eric Topol (44:59):Yeah, no, it's interesting that there's still some uncertainties there and MoTrPAC may help guide us or at elucidate some of them. I guess it does bring up one other thing I got to get to with you because we didn't really get to the question of moderate to higher intensity, not to the level of the ultra exercises, but if you just do steps or do you sweat like hell, where do you draw the line? Or is that really part a function of age and ability? When you recommend exercise, because obviously you're rational and there's others out there that are exercising three or four hours a day and they're going to extreme craziness, but just in a reasonable thing, do you think just telling people who are 70 that walking is good enough or do you try to encourage them to push it?Euan Ashley (45:59):Yeah, I do encourage people to push it a bit because I think there's clear evidence that higher intensity, some degree of higher intensity exercise really does provide more benefit. But I think my main message first is because for most people, the potential of moderate versus high is in the distance and in the future for most people, we need to get them off the couch and get them on their feet. So my emphasis is that you can go a long way with just a little movement, even a little standing. And then I think if they're really getting into the habit and really doing some exercise then, and if they don't have a prior history of let's say, heart attack or other medical issues that might make high intensity exercise risky, if they don't have those, then I absolutely do get to the point where I recommend some amount of higher intensity exercise, because I think there is some evidence that it has a little extra benefit.Eric Topol (46:51):Oh, that's great. Well, this is the most in-depth conversation I've ever had with anybody on exercise, so Euan I really appreciate it. I mean, I knew you from all your work in genomics of course, and we've had some overlap from time to time, but the exercise stuff is fantastic. Did I miss anything?Euan Ashley (47:09):No, I don't think so. Just underline again to anyone who's listening if they're interested to play with this data, it's very much out there. It's a tool for the world, and they can go to https://motrpac-data.org/ and even you can do some analysis without downloading any data either. If you just have a favorite gene or a favorite protein, you can type that in and take a look at some of the tools we have there. But yeah, really appreciate the conversation and very fun to chat about what has been a really, really fun project.Eric Topol (47:39):Well, thank you and all the folks at MoTrPAC, all the hard work and of course the funding that got it going to give it that runway of several years. So we'll look forward to more. I hope to convene with you again when some of the other studies come out, and thanks so much.*****************************************************Thanks for listening, reading or watching!The Ground Truths newsletters and podcasts are all free, open-access, without ads.Please share this post/podcast with your friends and network if you found it informativeVoluntary paid subscriptions all go to support Scripps Research. Many thanks for that—they greatly helped fund our summer internship programs for 2023 and 2024.Thanks to my producer Jessica Nguyen and Sinjun Balabanoff for audio and video support at Scripps Research.Note: you can select preferences to receive emails about newsletters, podcasts, or all I don't want to bother you with an email for content that you're not interested in. Get full access to Ground Truths at erictopol.substack.com/subscribe

Unfiltered Extra
Dr Euan Ashley: The Stanford human genome expert on how personalised medicine will help you live a longer, healthier life

Unfiltered Extra

Play Episode Listen Later Dec 28, 2023 27:33


It took ten countries ten years and $3 billion to sequence the human genome but since that seismic breakthrough the time, cost and effort to repeat the feat has plummeted.Dr Euan Ashley, Associate Dean in the School of Medicine at Stanford University, is known for helping establish the field of medical genomics and led the team that conducted the first medical interpretation of the human genome.Most recently his team have held a Guinness World Record for the fastest DNA sequencing technique at a little more than five hours.The implications, as he explains in an in-depth conversation with Unfiltered editor-in-chief Joe Warner, will change the world, both in extremely rare cases of unknown disease diagnosis for faster treatment, right up to population-level systemic changes to national and international healthcare policy.It has the potential to change everything we thought we knew about genetics, disease, medicine and treatment, and could significantly improve both lifespan and healthspan around the world.But it is not without risk, most notably the concern of the creation of a multi-tier healthcare and insurance system in which those with money and influence will always be at the front of the queue.As Dr Ashley explains, the future of the world rests on the right decisions being made.For exclusive access to all Unfiltered's video interviews, features and documentaries visit https://unfilteredonline.com/Get in touch in the comments below or talk to us on:Email: editorial@unfilteredonline.comYouTube: https://www.youtube.com/channel/UCGSV7XVaBYUYq5YidLI12owInstagram: https://www.instagram.com/unfiltered.extraTwitter: https://twitter.com/UnfilteredExtra

STEM-Talk
Episode 160: Euan Ashley discusses precision medicine and the potential to predict, prevent, and diagnose diseases before they occur

STEM-Talk

Play Episode Listen Later Nov 28, 2023 85:45


Our guest today is Dr. Euan Ashley, a leading pioneer in the use of genomic sequencing to solve some of the most puzzling medical mysteries that people face today. Medical genomics, and the precision medicine it will enable, has the potential to predict, prevent, and diagnose many common (and uncommon) diseases. In today's interview, we discuss: -- Euan's work with a colleague who was just the fifth person in the world to have his genome sequenced. -- Precision medicine and how Euan has helped establish medical genomics. -- Technological advances that made sequencing cost-effective for individuals. -- How pathogenic labels will transform healthcare. -- The Undiagnosed Disease Network, which includes physicians from across the country who work with patients and families to solve medical mysteries. -- Research coming out of Euan's lab that shows how all forms of exercise, particularly endurance exercise, confer benefits across all domains of health and function. Euan is a Scottish-born professor of medicine and genetics at Stanford University. He's also the author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them. Show notes: [00:02:27] Dawn begins the interview asking Euan if it is true that he was a computer nerd growing up and if his interest in science fiction played a part in that. [00:03:03] Dawn asks Euan how he was first introduced to computers and what it was about them that hooked him. [00:03:44] Dawn asks about Euan developing tax software when he was a teen-ager for his father. [00:04:53] Ken asks if Euan ever developed, or thought about developing, any computer games. [00:06:34] Dawn asks Euan where he grew up. [00:06:51] Dawn mentions that Euan's father is a physician, and his mother a midwife, and that even from a young age Euan told people that he wanted to become a physician, even though his parents did not push him in that direction. Dawn asks Euan what the underlying pull towards becoming a physician was for him. [00:07:52] Ken asks Euan how he became interested in data and statistics. [00:09:08] Dawn mentions that Euan graduated with first-class honors in physiology and medicine from the University of Glasgow, and then went for a medical residency and Ph.D. at the University of Oxford. Dawn asks when in that journey he met his wife Fiona, who helped him through medical school and has played a major role in his life and career. [00:10:26] Ken mentions that Euan and his wife took off for California, where he conducted his post-doc research at Stanford University. Ken mentions that Euan would later join the Stanford faculty in 2006, and asks Euan what made him decide to move to Stanford in the first place. [00:12:54] Dawn asks Euan what it was that fascinated him about the heart and at what point did he decide to specialize in cardiology. [00:15:03] Ken asks Euan when he realized that he could combine his career in medicine with his interests in computing and data. [00:17:38] Dawn explains that Euan's lab at Stanford is focused on the science of precision medicine, and that he is perhaps best known for helping to establish the field of medical genomics. Dawn goes on to mention that Euan and his colleagues developed some of the earliest tools for interpretation of the human genome in the context of human health and asks Euan to give a short primer on the genome and how the first draft of the human genome sequence was completed about 20 years ago. [00:20:36] Ken asks what genomic medicine and precision medicine entail. [00:22:33] Dawn asks Euan about a moment in his life in 2009 when he walked into the office of a friend who was the fifth person in the world to have his genome sequenced. [00:27:19] Dawn mentions that in 2010 Euan wrote a paper about Steve, his aforementioned friend who had his genome sequenced. The paper described how Euan put together a team to undertake an integrated analysis of a complete hu...

Economist Podcasts
Babbage: Change clinical trials and save lives

Economist Podcasts

Play Episode Listen Later May 24, 2023 39:46


Clinical trials are the gold standard for testing the safety and efficacy of a treatment or drug, and a keystone in modern medicine. But their grinding timelines and skyrocketing price tags are hindering development and, ultimately, costing lives.Natasha Loder, The Economist's health editor, asks Sir Martin Landray, the boss of Protas, a clinical-trial organisation, what can be learned from his pioneering RECOVERY covid-19 trial. Euan Ashley, a cardiologist at Stanford University, explains how to use wearable technology to conduct wholly digital clinical trials. Plus, Alejandro Frangi of the University of Leeds says virtual clinical trials that use computers to model medical interventions can save time and money. Alok Jha, The Economist's science and technology editor, hosts.We would love to hear from you. Please fill out our listener survey at economist.com/babbagesurvey.For full access to The Economist's print, digital and audio editions subscribe at economist.com/podcastoffer and sign up for our weekly science newsletter at economist.com/simplyscience. Hosted on Acast. See acast.com/privacy for more information.

Babbage from Economist Radio
Babbage: Change clinical trials and save lives

Babbage from Economist Radio

Play Episode Listen Later May 24, 2023 39:46


Clinical trials are the gold standard for testing the safety and efficacy of a treatment or drug, and a keystone in modern medicine. But their grinding timelines and skyrocketing price tags are hindering development and, ultimately, costing lives.Natasha Loder, The Economist's health editor, asks Sir Martin Landray, the boss of Protas, a clinical-trial organisation, what can be learned from his pioneering RECOVERY covid-19 trial. Euan Ashley, a cardiologist at Stanford University, explains how to use wearable technology to conduct wholly digital clinical trials. Plus, Alejandro Frangi of the University of Leeds says virtual clinical trials that use computers to model medical interventions can save time and money. Alok Jha, The Economist's science and technology editor, hosts.We would love to hear from you. Please fill out our listener survey at economist.com/babbagesurvey.For full access to The Economist's print, digital and audio editions subscribe at economist.com/podcastoffer and sign up for our weekly science newsletter at economist.com/simplyscience. Hosted on Acast. See acast.com/privacy for more information.

The Engineering Leadership Podcast
Leading through an economic downturn & bridging the gap between engineering & business w/ Ryan Graciano #115

The Engineering Leadership Podcast

Play Episode Listen Later Jan 31, 2023 47:35


Ryan Graciano, Co-Founder & CTO @ Credit Karma, shares with us what it's like to start a company during an economic downturn, how his leadership style had to evolve alongside Credit Karma's growth, advice for running lean operations, bridging the gap between engineering & business, how to scale the business as the company matures, and identifying & correcting team/org dysfunctions. In addition, Ryan shares some of his favorite successful & failed leadership experiments that helped evolve his leadership style!ABOUT RYAN GRACIANOAs a co-founder of Credit Karma and Chief Technical Officer, Ryan Graciano (@rmgraci) has grown the company's engineering department from a one-man band into a team of hundreds, developing a technical framework to support the company's rapid growth. His expertise and innovation has helped bring new levels of usability and sophistication to financial services technologies.Today, Ryan runs an ever-expanding group of engineers tasked with building out new products at pace while stressing a culture of agility and experimentation, even as Credit Karma reaches new levels of scale. As a leader, he serves as a constructive agitator, looking to break down traditional workplace hierarchies and empowering each member of his department with real influence over the future of the product.Ryan has a Bachelors degree in Computer Science from the Georgia Institute of Technology and spent five years at IBM before joining Credit Karma."When I was earlier in my career, I really thought that the CTO's job was to know the most about the technology. Really, the CTO's job is to hire the people that know the most about the technology and then translate it to the business people who don't speak it at all.”- Ryan Graciano   Looking for ways to support the show?Send a link to the show to your marketing team! https://sfelc.com/podcastsIf your company is looking to gain exposure to thousands of engineering leaders and key decision-makers, we have sponsorship opportunities available.To explore sponsor opportunities, email us at sponsor@sfelc.comInterested in joining an ELC Peer Group?ELCs Peer Groups provide a virtual, curated, and ongoing peer learning opportunity to help you navigate the unknown, uncover solutions and accelerate your learning with a small group of trusted peers.Apply to join a peer group HERE: sfelc.com/peerGroupsSHOW NOTES:What the early days at Credit Karma looked like (2:31)Eng leadership lessons learned from the early-stage days (4:03)Ryan's advice on running lean & determining what matters most (5:42)The inflection point when Credit Karma's priorities shifted (8:31)Strategies for bridging the gap between engineering & business (12:44)What was most helpful for designing a monetization engine early on (15:07)How Ryan's leadership style evolved as Credit Karma expanded (16:37)Frameworks for identifying areas of improvement as an eng leader (18:32)Who do you hire first to scale yourself and your eng org? And other scaling principles (20:13)How to identify deficiencies in your system (22:00)An example of how detecting a dysfunction lead to systematic transformation (26:00)Tips for hosting conversations that lead to buy in / alignment (28:29)Ryan's favorite failed leadership experiments (30:18)Why it's important for leadership teams to measure & respond (35:50)Matching the vision for the organization to what you want to see in a product (37:04)When adjustments have to be made to the org's vision (42:18)Rapid fire questions (43:40)LINKS AND RESOURCESThe Genome Odyssey - In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease.

NEJM AI Grand Rounds
Dr. Euan Ashley on AI, Genomics, and Cardiology

NEJM AI Grand Rounds

Play Episode Listen Later Dec 15, 2022 54:57 Transcription Available


Dr. Euan Ashley is a pioneer. In 2010, he led the team that conducted the first clinical interpretation of a human genome, and he holds the record for the world's fastest genomic diagnosis. He even has a Guinness World Record to prove it. In this wide-ranging discussion, Dr. Ashley shares the stories behind these feats, his experiences applying artificial intelligence to genomics and to cardiology, and his views on whether and how AI will change medicine. Transcript

The G Word
Dr Euan Ashley: The power of answers

The G Word

Play Episode Listen Later Aug 25, 2021 40:51


“The place where the genome has really had this massive impact over the last decade has been in rare disease, and in particular patients with undiagnosed disease. They are on these medical odysseys, often for years and years, going from doctor to doctor just accumulating emotional and financial burden without answers. The genome is such a powerful tool to solve these cases.”  In this week's episode of The G Word #sciencepodcast, our CEO Chris Wigley is joined by Dr Euan Ashley, Professor of Medicine and Genetics at Stanford University, Non-Executive Board Member at AstraZeneca and author. Euan led the team that carried out the first medical interpretation of a human genome and the first whole genome molecular autopsy and has co-founded numerous companies.  Today Euan talks about his book, ‘The Genome Odyssey,' his group's work on the first clinical interpretation of a human genome and his work with Personalis. He also discusses his interests during childhood and his early career.  

DNA Today: A Genetics Podcast
#150 Euan Ashley and Stephen Quake on The Genome Odyssey

DNA Today: A Genetics Podcast

Play Episode Listen Later Jun 18, 2021


This marks the 150th episode of DNA Today! Our guests to celebrate this landmark episode of DNA Today are Dr. Euan Ashley, a medical geneticist and cardiologist. And Dr. Stephen Quake, a physics professor, bioengineer and pioneer in microfluidics. A Scotland native, Dr. Euan Ashley graduated with degrees in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular physiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, and became one of the most cited articles in clinical medicine that year. The team extended the approach in 2011 to a family of four and now routinely applies genome sequencing to the diagnosis of patients at Stanford hospital where Dr. Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2014, Dr Ashley became co-chair of the steering committee of the NIH Undiagnosed Diseases Network. Stephen Quake is a professor of bioengineering and applied physics at Stanford University and is co-President of the Chan Zuckerberg Biohub. He holds a B.S. in Physics and M.S. in Mathematics from Stanford University and a doctorate in Theoretical Physics from the University of Oxford. Dr. Quake has invented many measurement tools for biology, including new DNA sequencing technologies that have enabled rapid analysis of the human genome and microfluidic automation that allows scientists to efficiently isolate individual cells and decipher their genetic code. Dr. Quake is also well known for inventing new diagnostic tools, including the first non-invasive prenatal test for Down syndrome and other aneuploidies. His test is rapidly replacing risky invasive approaches such as amniocentesis, and millions of women each year now benefit from this approach. He was also the fifth person in the world to have their genome sequences and his genome was the subject of clinical annotation by a large team at Stanford Hospital led by Dr. Ashley. On This Episode We Discuss:The first clinical interpretation of a human genomeGenome sequencing technologiesThe cost of sequencing a genome Understanding the genomic codeThe future of precision medicineDr. Ashley's book, The Genome OdysseyWant to read the Genome Odyssey? Enter to win your own copy! Head over to our Twitter, Instagram, Facebook, and LinkedIn to enter to win a free book!Be sure to follow Dr. Ashley and Dr. Quake on Twitter! How do you keep research articles organized? We have struggled with this for years, but have finally found a solution that is simple and easy. It's called Paperpile! It radically simplifies the workflow of collecting, managing and writing papers. Paperpile allows you to highlight and annotate papers, manage references, share and collaborate and even cite directly in Google Docs and Microsoft Word. Paperpile's new mobile apps allows you to sync your library to all your devices so you can read and annotate on your iPad, iPhone, or Android device. Start your free 30 day trial today at paperpile.com with promo code “DNATODAY”. Paperpile costs only $36 per year, but with code “DNATODAY” you save 20%! Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence's “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties for an hour and a half. You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. Stay tuned for the next new episode of DNA Today on July 2nd, 2021! We'll be joined by Dr. Richard Michelmore and Dr. Brad Pollock who will be discussing COVID-19 variants. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

The Bob Harrington Show
A Tale of Medical Mysteries Unraveled by Genetic Detectives

The Bob Harrington Show

Play Episode Listen Later Jun 7, 2021 32:26


A genomics giant with a family history of heart disease and an Olympic athlete accused of cheating are just two of the medical mysteries unraveled by DNA analysis. Bob Harrington interviews Euan Ashley, author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them (https://us.macmillan.com/books/9781250234995), who was inspired to write the book after watching an interview between "fellow nerds" Atul Gawande and Barack Obama. To read a transcript or to comment https://www.medscape.com/author/bob-harrington The Book The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them https://us.macmillan.com/books/9781250234995 The People Stephen Quake Clinical assessment incorporating a personal genome https://doi.org/10.1016/s0140-6736(10)60452-7 Leilani Graham https://www.leilanirgraham.com/ Eero Mäntyranta https://theolympians.co/2018/01/22/eero-mantyranta-the-ruddy-cheeks-and-the-genetic-advantange-of-a-cross-country-skiing-legend-from-finland/ You may also like: Medscape Editor-in-Chief Eric Topol, MD, and master storyteller and clinician Abraham Verghese, MD, on Medicine and the Machine https://www.medscape.com/features/public/machine Hear Dr John Mandrola's summary and perspective on the top cardiology news each week, on This Week in Cardiology https://www.medscape.com/twic Questions or feedback, please contact news@medscape.net

The Beagle Has Landed Podcast
Euan Ashley on The Genome Odyssey

The Beagle Has Landed Podcast

Play Episode Listen Later Apr 26, 2021


Euan Ashley has had a front row seat at the genomic revolution, and in his new book The Genome Odyssey he invites us to sit alongside him and watch the show. Even if you lived through it, you won’t believe how quickly things have changed!

odyssey genome euan ashley
Commonwealth Club of California Podcast
Dr. Euan Ashley: The Genome Odyssey

Commonwealth Club of California Podcast

Play Episode Listen Later Mar 4, 2021 60:35


Thanks to developments in genetic medicine, for the first time we have the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. Since the Human Genome Project was completed in 2003, the possibilities for genetic medicine have only grown. But what does the human genome and genome sequencing mean for citizens today, and what will it mean for health care over the next several decades? In his new book, The Genome Odyssey, Dr. Euan Ashley answers some of the questions by detailing the medicine and science behind genome sequencing, introducing a dynamic group of researchers and medical investigators who hunt for genetic answers, and bringing forward pioneering patients who open up their lives to the medical community during their search for diagnoses and cures for inherited diseases. Ashley describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. Dr. Ashley and his team, and a small number of others around the country, are currently working to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, and where medicine can be tailored to treat specific diseases before they show symptoms and to decode pathogens like viruses at the genomic level. Please join us as Dr. Euan Ashley talks about revolutionizing health care and the future of medicine by continuing to unlock the secrets of the human genome. About the Speaker Euan Ashley is a professor of medicine and genetics at Stanford University. He was born in Scotland and graduated from the University of Glasgow. He attended Oxford University, completing a Ph.D. there before moving to Stanford University, where he trained in cardiology. He joined the Stanford faculty, where he led the team that carried out the first medical interpretation of a human genome. Ashley has received awards from the National Institutes of Health and the American Heart Association. He was recognized by the Obama White House and received the Medal of Honor from the American Heart Association. His articles have appeared in the many journals, including Lancet, The New England Journal of Medicine, The Journal of the American Medical Association, Nature and Cell. He appears regularly on local and national radio and TV. He is the founder of three companies and advisor to several Silicon Valley companies. SPEAKERS Dr. Euan Ashley Professor of Medicine and Genetics, Stanford University; Author, The Genome Odyssey In Conversation with Anne Wojcicki CEO and Co-Founder, 23andMe In response to the COVID-19 pandemic, we are currently hosting all of our live programming via YouTube live stream. This program was recorded via video conference on March 3rd, 2021 by the Commonwealth Club of California. Learn more about your ad choices. Visit megaphone.fm/adchoices

Books on Pod
#112 - Euan Angus Ashley on THE GENOME ODYSSEY

Books on Pod

Play Episode Listen Later Mar 4, 2021 54:31


Stanford cardiologist and geneticist Dr. Euan Ashley chats with Trey Elling about THE GENOME ODYSSEY: MEDICAL MYSTERIES AND THE INCREDIBLE QUEST TO SOLVE THEM, including how his medical interest in the heart eventually included the genome, specific cases solved via the Undiagnosed Diseases Network, genetic mutations that benefit the individuals, CRISPR's potential role in the future of rare genetic diseases, and more.

stanford odyssey angus crispr genome euan euan ashley undiagnosed diseases network trey elling
Commonwealth Club of California Podcast
Dr. Euan Ashley: The Genome Odyssey

Commonwealth Club of California Podcast

Play Episode Listen Later Mar 4, 2021 60:20


Thanks to developments in genetic medicine, for the first time we have the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. Since the Human Genome Project was completed in 2003, the possibilities for genetic medicine have only grown. But what does the human genome and genome sequencing mean for citizens today, and what will it mean for health care over the next several decades? In his new book, The Genome Odyssey, Dr. Euan Ashley answers some of the questions by detailing the medicine and science behind genome sequencing, introducing a dynamic group of researchers and medical investigators who hunt for genetic answers, and bringing forward pioneering patients who open up their lives to the medical community during their search for diagnoses and cures for inherited diseases. Ashley describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. Dr. Ashley and his team, and a small number of others around the country, are currently working to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, and where medicine can be tailored to treat specific diseases before they show symptoms and to decode pathogens like viruses at the genomic level. Please join us as Dr. Euan Ashley talks about revolutionizing health care and the future of medicine by continuing to unlock the secrets of the human genome. About the Speaker Euan Ashley is a professor of medicine and genetics at Stanford University. He was born in Scotland and graduated from the University of Glasgow. He attended Oxford University, completing a Ph.D. there before moving to Stanford University, where he trained in cardiology. He joined the Stanford faculty, where he led the team that carried out the first medical interpretation of a human genome. Ashley has received awards from the National Institutes of Health and the American Heart Association. He was recognized by the Obama White House and received the Medal of Honor from the American Heart Association. His articles have appeared in the many journals, including Lancet, The New England Journal of Medicine, The Journal of the American Medical Association, Nature and Cell. He appears regularly on local and national radio and TV. He is the founder of three companies and advisor to several Silicon Valley companies. SPEAKERS Dr. Euan Ashley Professor of Medicine and Genetics, Stanford University; Author, The Genome Odyssey In Conversation with Anne Wojcicki CEO and Co-Founder, 23andMe In response to the COVID-19 pandemic, we are currently hosting all of our live programming via YouTube live stream. This program was recorded via video conference on March 3rd, 2021 by the Commonwealth Club of California. Learn more about your ad choices. Visit megaphone.fm/adchoices

KPCW Cool Science Radio
Dr. Euan Ashley Unlocks the Mysteries of the Human Genome Sequence

KPCW Cool Science Radio

Play Episode Listen Later Feb 25, 2021 28:56


On today's episode of Cool Science Radio : John Wells and Lynn Ware Peek welcome Dr. Euan Ashley. Dr. Ashley is taking us back 20 years to discuss the first draft of the human genome sequence. Since then, medical “detectives” like Dr. Ashley have been using the genome to solve their patients’ most puzzling and pressing medical mysteries. They now understand that this complex and unique data set could be used to prevent disease, from the commonplace to those that cause global pandemics. Dr. Ashley breaks it all down in his new book The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them.

Tales from the Heart
Episode 16: Euan Ashley, MD, PhD Professor of Medicine & Genetics Stanford and HCM Program C0-Director.

Tales from the Heart

Play Episode Listen Later Dec 31, 2020 49:51


In this episode,  Euan Ashley, MD, PhD Professor of Medicine & Genetics Stanford and HCM Program Co-Director discusses his new book, The Genome Odyssey - Medical Mysteries, and the incredible question to solve them. We are also joined by Leilani Graham, who is featured in the book. The ties to HCM are made clear in the podcast! Q&A live at the conclusion of the interview. Available for preorder https://us.macmillan.com/books/9781250234995

Getting Personal: Omics of the Heart

Jane Ferguson:  Hi, everyone. Welcome to Getting Personal: Omics of the Heart, the podcast from Circulation: Genomic and Precision Medicine. It's May 2019, and this is episode 28. So let's see what papers we have in the journal this month.                              First up, a paper from Mengyao Yu, Nabila Bouatia-Naji and colleagues from the Inserm Cardiovascular Research Center in Paris, entitled GWAS-Driven Gene-set Analyses, Genetic and Functional Follow-Up Suggest Glis1 as a Susceptibility Gene for Mitral Valve Prolapse.                              In this paper, they set out to characterize the genetic contributions to mitral valve prolapse, or MVP, to better understand the biological mechanisms underlying disease. They applied the gene-set enrichment analysis for QWAS tool and the pathway enrichment tool DEPICT to existing GWAS for MVP in a French sample to identify gene sets associated with MVP. They find significant enrichment of genes involved in pathways of relevance to valve biology and enrichment for gene expression in tissues of relevance to cardiovascular disease.                              They zeroed in a Glis family zinc finger gene Glis1 with consistently strong pattern of evidence across the GWAS enrichment and transcription analyses. They replicated the association between Glis1 and MVP in a UK biobank sample. They found that Glis1 is expressed in valvular cells during embryonic development in mice, but is mostly absent at later times. They targeted two Glis1 orthologs in zebrafish and found that knockdown of Glis1 B was associated with a significant increase in the incidence of severe atrioventricular regurgitation. These data highlight Glis1 as a potential regulator of cardiac valve development with relevance for risk of mitral valve prolapse.                              Next up is a paper from Gina Peloso, Akihiro Namuro, Sek Kathiresan and colleagues from Boston University, Kanazawa University, and Mass General Hospital. In their paper, Rare Protein Truncating Variance in APOB, Lower LDL-C, and Protection Against Coronary Heart Disease, the team was interested in understanding whether protein truncating variance in APOB underlying familial hypobetalipoproteinemia confer any protection against coronary heart disease.                              They sequenced the APOB gene in 29 Japanese families with hypobetalipoproteinemia as well as in over 57,000 individuals, some with early onset CHD and some without CHD. They found that presence of an APOB truncating variant was associated with lower LDL cholesterol and lower triglycerides, and also with significantly lower risk for coronary heart disease. This study confirms that variance in APOB, leading to reduced LDL and triglycerides are also protective against coronary heart disease. :                            The next paper entitled Mortality Risk Associated with Truncating Founder Mutations in Titin comes to us from Mark Jansen, Dennis Dooijes, and colleagues from University Medical Center Utrecht. They analyzed the effect of titin truncating variance on mortality in Dutch families. Titin truncating variants are associated with dilated cardiomyopathy, but have a very variable penetrance.                              In this study, the authors looked at three titin truncating variants, established to be founder mutations, and traced the pedigrees back to 18th century ancestors. They looked at 61 individuals on the transmission line and 360 of their first-degree relatives. They find no evidence for excess mortality in variant carriers overall. However, when they restrict it to individuals over 60 years of age, they did find a significant difference in mortality, which was also observed in individuals born after 1965. What these data tell us is that these titin truncating variants have a relatively mild phenotype with effects on mortality only manifesting later in life in many carriers. Given increases in life expectancy over the past several decades, the prevalence of morbidity and mortality attributable to titin truncating variants may increase. Genetic screening may identify genotype-positive, phenotype-negative individuals who would benefit from preventative interventions.                              Continuing on the theme of genetic variance, we have a paper from John Giudicessi, Michael Ackerman, and colleagues from the Mayo Clinic, Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. In this paper, they aim to find a better way to classify variants of unknown significance, of VUS, in the RYR2 gene. Variants in this gene are commonly associated with catecholaminergic polymorphic ventricular tachycardia, or CPVT.                              They examined 72 distinct variants in 84 Mayo Clinic cases and find that 48% were classified as VUS under ACMG guidelines. The rate was similar in a second sample from the Netherlands, with 42% of variants originally classified as VUS. They developed a diagnostic scorecard to incorporate a pretest clinical probability of CPVT, which included various clinical criteria, including symptoms and stress test results. Application of the phenotype enhanced ACMG criteria brought the VUS rate down to 7% in Mayo Clinic and 9% in the Dutch samples. The majority of VUS were reclassified as likely pathogenic.                              This study highlights how incorporation of disease-specific phenotype information can help to improve variant classification and reduce the ambiguity of reporting variants of unknown significance.                              We also have a number of research letters in the journal this month. From Karine Ngoyen, Gilbert Habib, and coauthors from Marseilles, we have a paper entitled Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy, Experience of a Multicentric study of 200 French Patients. In this study, they examined the genetic contributions to hypertrophic cardiomyopathy, or HCM, in 200 individuals as part of the HYPERGEN study and compared the benefits of whole exome sequencing compared with targeted sequencing of candidates' sarcomeric genes. All subjects had HCM documented by echocardiography.                              In the whole exome sequencing data, they first looked for mutations within 167 genes known to be involved in cardiomyopathies or other hereditary diseases. Of these 167 virtual panel genes, they find variants in 101 genes. Following whole exome sequencing, over 87% of the patients had an identified pathogenic, or likely pathogenic, mutation compared with only 35% of patients who only had targeted sequencing of sarcomeric genes.                              This highlights the generic heterogeneity of HCM and suggests that whole exome sequencing has utility in identifying variants not covered by sarcomeric gene panels.                              The next letter is from Wouter Te Rijdt, Martin [Vandenberg] and colleagues from University Medical Center Groningen and states that [dissynchronopathy] can be a manifestation of heritable cardiomyopathy. They hypothesized that left bundle branch block, also designated as dissynchronopathy, may be a manifestation of familial cardiomyopathy.                              They analyzed patients from a database of cardiac resynchronization therapy and identified super-responders whose left ventricular dysfunction was normalized by therapy. They carried out targeted sequencing in 60 known cardiomyopathy genes in 16 of these super-responder individuals and identified several variants, including a pathogenic variant in troponin T in one individual and variants of unknown significance in nine individuals. Pedigree analysis identified multiple family members with dilated cardiomyopathy.                              This study highlights that dissynchronopathy can be a manifestation of DCM, but that affected individuals may still benefit from cardiac resynchronization therapy.                              The next letter entitled Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3 comes from Alexandra Dainis, Euan Ashley, and colleagues from Stanford University. They set out to understand whether transcriptome sequencing could improve the diagnostic yield over genome sequencing in patients with hypertrophic cardiomyopathy. In particular, they hypothesized that long-read sequencing would allow for identification of alternative splicing linked to disease variance. They used long-read RNA and DNA sequencing to target the MYBPC3 gene in an individual with severe HCM who carried a putative splice-site altering variant in the gene. They were able to obtain heart tissue for sequencing and included several HCM and control subjects in addition to the patient with the MYBPC3 variant.                              They identified several novel isoforms that were only present in the patient sample, as well as some additional isoforms, including retained introns, extended exons, and an additional cryptic exon, which would not have been predicted based on the DNA variant. While the effects on protein function is not known, the transcripts are predicted to be translated.                              This analysis highlights the effect of a rare variant on transcription of MYBPC3 and provides additional evidence to link the variant to disease. This is a really nice approach, which could be used to probe causality and mechanisms, not only for cardiovascular disease, but for other rare variants in many disease settings.                              We finish with a perspective piece from Nosheen Reza, Anjali Owens, and coauthors from the University of Pennsylvania entitled Good Intentions Gone Bad, The Dangers of Sponsored Personalized Genomics. They present a case of a 23-year-old woman who presented for genetic counseling and evaluation after discovering she carried a likely pathogenic MYH7 variant associated with cardiomyopathy. She had no significant medical history, but had participated in employer-sponsored genetic testing motivated to identify potential variants related to cancer given a family history of cancer.                              After receiving her results, she experienced considerable anxiety and stopped exercising out of fear of cardiac complications. She visited an ER after experiencing chest pain, something she had not experienced previously. There was no appropriate counseling available at her institution for her genetic test results, leading her to seek out the additional counseling. Thus, while she was initially motivated to complete genetic testing because her employer offered it free of change, she ended up incurring costs related to the followup evaluation and counseling. Ultimately, she had no significant clinical findings. Although the variant had been listed as likely pathogenic, other sources consider it to be of unknown significance.                              This story highlights the psychological and financial impact that genetic testing can have on individuals, particularly when carried out without any pretest counseling or accessible post-test support when variants are identified.                              Despite the considerable promise of personalized medicine, there are many complexities to be considered, particularly with direct-to-consumer testing and employer-sponsored testing. This perspective highlights the ethical considerations and urges caution to maintain the best interests of patients.                              That's all for this month. Thanks for listening. I look forward to bringing you more next month.                              This podcast was brought to you by Circulation Genomic and Precision Medicine and the American Heart Association Council on Genomic and Precision Medicine. This program is copyright American Heart Association 2019.  

Stanford Radio
E24 | Euan Ashley: Exploring a new age of medical diagnostics

Stanford Radio

Play Episode Listen Later Sep 11, 2017 27:53


Future of Everything with Russ Altman "Euan Ashley: Exploring a new age of medical diagnostics" Stanford’s Russ Altman and Euan Ashley discuss wearable technology, data and the extraordinary challenges of undiagnosed disease. Originally aired on SiriusXM on September 9, 2017.

The Future of Everything presented by Stanford Engineering
​Euan Ashley: Exploring a new age of medical diagnostics

The Future of Everything presented by Stanford Engineering

Play Episode Listen Later Sep 9, 2017 27:53


In the Future of Everything radio show, Stanford's Russ Altman and Euan Ashley discuss wearable technology, data and the extraordinary challenges when diagnoses elude physicians and their patients. Ashley is a professor of medicine (cardiovascular) and by courtesy, of pathology at the Stanford University Medical Center. Listen to more episodes of the Future of Everything with host, bioengineering professor Russ Altman.

NEWSPlus Radio
【专题】慢速英语(美音)2017-06-06

NEWSPlus Radio

Play Episode Listen Later Jun 2, 2017 25:00


2017-06-06 Special EnglishThis is Special English. I&`&m Ryan Price in Beijing. Here is the news.China has celebrated its first science and technology day, which means it has only been one year since the country declared its intention of becoming a leading power in Science and Technology by the middle of the century.Things have moved pretty swiftly since.Jiaolong, China&`&s manned submarine, went quite literally to the bottom of the ocean recently. Scientists collected samples of seawater, rock and marine life, including sea cucumbers, sponges and starfish. The geological samples will help them understand how the trench was formed.In pursuit of the kind of quantum scientific leaps China needs, space is another frontier to be conquered.In southwest China, the Five-hundred-meter Aperture Spherical Telescope began scanning the skies in September. It is the world&`&s largest radio telescope. Its mission is to help scientists understand the origin and structure of the universe, and perhaps bring the search for extraterrestrial life closer to what would be an astonishing conclusion.Meanwhile, out in actual space itself, the Shenzhou-11 spacecraft, launched in October last year, carried two astronauts to the space lab Tiangong-2, where they remained for 30 days.In April this year, the Tianzhou-1 cargo spacecraft docked with Tiangong-2, refueling and resupplying the orbiting lab.This is Special English.China&`&s manned submarine Jiaolong has descended to 6,699 meters in the Mariana Trench, recording images of two swimming snailfishes.The mission, on May 30th, was Jiaolong&`&s fourth dive in the trench this year.The dive began at 7:03 a.m. local time and reached the planned depth at 10:21 a.m. where scientists worked for three hours and ten minutes.Jiaolong collected samples of rock, sediment, deep-sea life and sea water in this dive, and recorded images of two swimming snailfishes.Scientists say research on snailfish, a typical deep-sea species, deepens our understanding on the evolution of deep-sea fishes and their environmental adaptation mechanism.Jiaolong&`&s first dive of this year in the world&`&s deepest known trench took place on May 23, with a Xinhua News Agency journalist descending inside the submarine along with scientists to a depth of 4,811 meters. The second and third dives on May 25 and 27 reached depths of 6,300 meters and 6,544 meters respectively. You&`&re listening to Special English. I&`&m Ryan Price in Beijing. U.S. President Donald Trump has called Germany&`&s trade and military spending policies "very bad" for the United States as tensions between him and German Chancellor Angela Merkel increased.Trump wrote on Twitter that the country have a MASSIVE trade deficit with Germany, plus they pay FAR LESS than they should on NATO and military, which was very bad for the U.S. He wrote that this will change.The blast came two days after Merkel cast doubts on EU&`&s alignment with the United States and Britain, saying that Europeans should determine their own destiny.Merkel, addressing an election campaign at a beer tent in Germany&`&s southern state of Bavaria, said recently that following the election of Trump and Brexit, Europeans "really have to take destiny into their own hands".Merkel said "the times when we could fully rely on others are to some extent over".Although Merkel did not further elaborate the reasons for her unexpected remarks, many German media speculated that Merkel was referring to her frustrating experience at the G7 meeting earlier this week in Italy&`&s Sicily.The German leader described the summit as "very difficult, not to say very unsatisfactory".Trump and Merkel had a long history of disagreement that was previously focused on the two leaders&`& view on immigration.This is Special English.The daughter of a longtime confidante of the former South Korean President has been delivered to South Korea.The 20-year-old is on her way home to South Korea. She was wanted for questioning in connection with a major corruption probe in her home country. The daughter was arrested by Denmark&`&s North Jutland Police on Jan. 1. Her mother is charged with using her friendship with former president Park to extort funds from large businesses and meddling in state affairs.The daughter is alleged to have received illegal favors when entering a prestigious South Korean university. She is also accused of being behind economic crimes in collusion with her mother, which she denied.Initially, the young daughter fought against a local court&`&s decision to extradite her and appealed. On April 19, the Court of Aalborg upheld the extradition decision so that she can stand her trial in South Korea. She has dropped her opposition. You&`&re listening to Special English. I&`&m Ryan Price in Beijing. Li Sun, former coach of Chinese table tennis super star Zhang Yining has replaced suspended Kong Linghui to take charge of China&`&s women&`&s national team at the ongoing World Table Tennis Championships.Head coach of the Chinese national team Liu Guoliang made the announcement as Kong had been ordered to return home from the World Championships. Liu and Kong won the men&`&s doubles gold at the 1996 Atlanta Olympic Games. Kong was suspended as head coach of the Chinese women&`&s team following a lawsuit over a gambling debt filed by a Singaporean hotel.The Singaporean hotel where Kong and his family had stayed in 2015 filed a lawsuit against him in a Hong Kong court. Media reports said Kong borrowed 1 million Singapore dollars, roughly 721,000 US dollars, from the hotel, but failed to pay back the debt in full.This is Special English. Kenyan President Uhuru Kenyatta has launched the standard gauge railway cargo train that is expected to ease congestion at the port of Mombasa.The Chinese Ambassador to Kenya and the President of the China Communications Construction Company attended the launch ceremony.President Kenyatta said at the unveiling of the train that it ushered in an era of fast, efficient and reliable transportation of goods.He said this is a historic moment as Kenya begins its journey of transformation, adding that his government is banking on the cargo train to hasten industrial growth and cross-border trade.Besides reducing the cost of ferrying goods from the port of Mombasa to the hinterlands, the cargo train will drastically reduce congestion in the highways and the environmental pollution.According to Kenya Railways Corporation, it will cost 500 dollars to transport a single container through the train when compared to 900 dollars by road between Mombasa and Nairobi.The president said expansion of Mombasa&`&s port and the operation of the train marked a critical milestone in Kenya&`&s quest to become an industrial and efficient trading hub.You&`&re listening to Special English. I&`&m Ryan Price in Beijing. You can access the program by logging on to crienglish.com. You can also find us on our Apple Podcast. Now the news continues.Sri Lanka has said it is preparing to face health concerns once the floods which lashed the country recede.The Health Minister of Sri Lanka told reporters that while there was no spread of disease so far, diarrhea and skin diseases are expected later.However he said health officials have been deployed to the affected areas and steps will be taken to counter the spread of any disease following the floods.The death toll from the floods and landslides increased to 193 on May 30th and 94 others are reported missing.Foreign assistance is continuing to flow in with China, Pakistan and India among the countries sending ship loads of humanitarian aid.Meanwhile the World Health Organization is liaising closely with the Sri Lanka Ministry of Health and is assisting the government to provide critical healthcare services.The main areas for support are medical team deployment, strengthening surveillance of communicable diseases, as well as provision of mental health and psychological support for survivors.This is Special English.Late night mobile phone use has devastating effects on teenager&`&s mental health. That&`&s according to a new study by Australian researchers at Murdoch and Griffith Universities.The study is funded by the Australian Research Council and is the world&`&s first long-term assessment of adolescent mental health regarding late night mobile phone usage. The study examined student&`&s quality of sleep, along with mood, aggression and coping skills.The process was conducted as an annual survey over four years and included 1,100 students from 29 schools.When the subjects began the process, they were in their eighth year of education at high school; and when the program concluded, they had hit year 11.The questionnaires focused on what time of the night students continued to receive or send text messages and phone calls.The study found that late night phone use directly contributed to poor sleep habits, which over time led to declines in overall well-being and mental health.Around two thirds or 65 percent of students in year eight who owned a mobile phone, reported to use it regularly after "lights out."You&`&re listening to Special English. I&`&m Ryan Price in Beijing. An inquiry into the accuracy of seven wristband activity monitors showed that six out of seven devices measured heart rate within 5 percent. None, however, measured energy expenditure well.The findings were based on an evaluation of the Apple Watch, Basis Peak, Fitbit Surge, Microsoft Band, Mio Alpha 2, PulseOn and the Samsung Gear S2 in a diverse group of 60 volunteers.Millions of people wear some kind of activity tracker and often share the data with their physician.Euan Ashley, professor of cardiovascular medicine at Stanford University says people are basing life decisions on the data provided by these devices. But consumer devices aren&`&t held to the same standards as medical-grade devices, and it&`&s hard for doctors to know what to make of heart-rate data and other data from a patient&`&s wearable device.In the study, the volunteers wore the seven devices while walking or running on treadmills or using stationary bicycles. Each volunteer&`&s heart was measured with a medical-grade electrocardiograph. Metabolic rate was estimated with an instrument for measuring the oxygen and carbon dioxide in breath, a good proxy for metabolism and energy expenditure. Results from the wearable devices were then compared to the measurements from the two instruments.This is Special English."The Square", directed by Swedish director Ruben Ostlund, has won the Palme d&`&Or of the 70th Cannes Film Festival.This film tells the story of Christian, a respected curator of a contemporary art museum, a divorced but devoted father of two girls.Christian&`&s next show is "The Square", an installation which invites passersby to altruism, reminding them of their role as responsible fellow human beings. Meanwhile, the museum&`&s PR agency has created an unexpected campaign for "The Square". The response is overblown and sends Christian, as well as the museum, into an existential crisis."The Square" presents a satirical exploration of the art world, and was seen by many as an unexpected, but solid choice for the prestigious award.The Grand Prix, often seen as the runner-up to the Palme d&`&Or, went to French director Robin Campillo for "120 Beats Per Minute". Chinese art film director Li Ruijun was also present at the renowned international film festival, after his film "Walking Past the Future" was chosen as an official selection for the "Un Certain Regard" category. This is the end of this edition of Special English. To freshen up your memory, I&`&m going to read one of the news items again at normal speed. Please listen carefully.(全文见周日微信。)

Mendelspod Podcast
Cardiologists Love Genomics: Euan Ashley, Stanford

Mendelspod Podcast

Play Episode Listen Later Feb 6, 2017


Euan Ashley is one of the big names in genomic medicine that has been missing from our guest list. We’re happy to correct that today. In 2010, he led the team who did the first clinical interpretation of a human genome--that of his Stanford colleague, Steve Quake. Since then Euan, an MD PhD, has been driving to make the use of new genomic tools and discoveries a routine part of medicine at Stanford, particularly in his own discipline of cardiology. A regular speaker on the conference circuit, Euan titles his talks, "Genomic Medicine Is Here."

Tech Tonics
Tech Tonics: The Most Interesting Man in Silicon Valley

Tech Tonics

Play Episode Listen Later Oct 31, 2016


Jazz musician, cardiologist, geneticist, engineer, entrepreneur, referee of kids soccer: our guest today, Stanford’s Euan Ashley, does it all, and just might be the most interesting man in Silicon Valley. Scotsman by birth, doctor by destiny, and a technologist by choice, Euan has pursued an integrative career that merges medicine and data, and is a […]

This Week in Health Innovation
Personalized Medicine: Meet @SAP_Healthcare CMO @DrDavidDelaney

This Week in Health Innovation

Play Episode Listen Later Feb 8, 2016 25:00


At the SAP Personalized Medicine Symposium held in Palo Alto, California, I met with their Chief Medical OfficerDavid Delaney, MD (follow via @DrDavidDelaney). A primary care physician turned informaticist and analytics geek, Dr. Delaney knows the space and drills into the value added role of analytics in general and the HANA platform in particular as well as the value proposition of collaboration and rapid learning systems in the emerging personalized and precision medicine ecosystem.  For two prior interviews Stanford Medicine faculty interviews with Carlos Bustamante, Ph.D, click here, and Euan Ashley, MRCP, DPhil, click here. Enjoy!   

This Week in Health Innovation
Meet Euan Ashley, MRCP, DPhil

This Week in Health Innovation

Play Episode Listen Later Nov 19, 2015 19:00


At SAP's recent symposium on personalized medicine, health innovation media had the good fortune to chat with several of the faculty including Euan Ashley, MRCP, DPhil (follow on twitter via @euanashley), Associate Professor of Medicine and Genetics at Stanford Medical School (for more information, see the Ashley Lab). The complete video interview is available here. Produced for Stanford Medicine by Gregg Masters, MPH, for Health Innovation Media.    

ChildX: Child and Maternal Health
Euan Ashley – Precision Medicine for Rare Childhood Disease_ Stanford Childx Conference

ChildX: Child and Maternal Health

Play Episode Listen Later Apr 27, 2015 34:19


The Bob Harrington Show
Big Data: Can Medicine Learn From Amazon and Netflix?

The Bob Harrington Show

Play Episode Listen Later Apr 20, 2015 26:01


ChildX: Child and Maternal Health
Euan Ashley: Stanford Childx Conference

ChildX: Child and Maternal Health

Play Episode Listen Later Apr 9, 2015 4:15


Euan Ashley discusses genomic medicine at the inaugural Childx Conference, 2015. Childx is a dynamic, TED-style conference designed to inspire innovation that improves pediatric and maternal health. Visit our website at http://childx.stanford.edu/

1:2:1
Whole Genome

1:2:1

Play Episode Listen Later May 6, 2014 31:13


A few years ago, Stanford cardiologist Euan Ashley, MD, described the promise of genomics for diagnosing and treating diseases as the "wild west" - a lot of researchers examining ways of using the technique, but too early to have meaningful results in the clinic. Since then, much has changed in the field.

Mini Med School: The Heart
6. The Athletic Heart: Cardiovascular Risks/Benefits in Performance Athletics (November 1, 2011)

Mini Med School: The Heart

Play Episode Listen Later Feb 7, 2012 85:09


Euan Ashley gives a presentation on some of the typical cardiovascular symptoms of high performing athletes. He discusses both the risks that they face, as well as the benefits they gain. (November 1, 2011)

1:2:1
What Gene Sequencing Means for Medicine

1:2:1

Play Episode Listen Later May 26, 2010 33:31


Dr. Euan Ashley, assistant professor of cardiovascular medicine, discusses gene sequencing and the myriad of questions weʼre bound to ask as we enter the dawn of a new age in genomics. (May 25, 2010)