Podcasts about Human genetics

Two years after researchers identified ReNU syndrome, where are we now?   In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research.  In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Co-founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments.  Links:  Previous episode detailing the discovery of ReNU Syndrome  ReNU Syndrome UK's website  Original research paper from Nicky's team in Oxford  Original research paper from the team based in New York   “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France. So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible.”  You can download the transcript, or read it below. [00:00:00] Sharon: In 2024, two independent research teams identified a genetic cause of a rare neurodevelopmental condition affecting thousands of people around the world. Since then, that initial groundbreaking discovery has grown into something much bigger, bringing together families, researchers, and clinicians, and building a clearer picture of what we now know as ReNU syndrome.  [00:00:26] Sharon: Welcome to Behind the Genes, the podcast that covers everything from cutting-edge research to real-life stories in genomic healthcare. I'm Sharon Jones, and in today's episode, we're looking at what's happened since that discovery, what researchers are continuing to learn, and what the future could hold for people living with  ReNU Syndrome and their families.  [00:00:46] Sharon: To help us understand more, I'm joined by Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares. So, two papers were published around the same time for this condition. To start us off, Nicky, you worked on one of these papers. Could you explain how this journey first began?   [00:01:05] Nicky: Yeah, so this was two years ago now, back in early 2024, where two research teams, so us based in Oxford and a, a group based in New York, were both looking at the data within the National Genomics Research Library, and we both kind of somewhat simultaneously found that there was variance in this very, very small gene, it's called RNU4-2, were found in individuals with previously undiagnosed neurodevelopmental disorders.  [00:01:39] Nicky: And this was very, very striking because we initially actually identified the same single DNA change or mutation in 40 or so different individuals within the National Genomics Research Library, and we normally expect to see a whole host of different variants. We don't expect to see the same one.  [00:01:59] Nicky: So this was a really, really surprising finding. And it was through a collaboration, large scale collaboration across the world where we started contacting our other collaborators who have similar collections of patients who have been genome sequenced to ask if they had any individuals with DNA changes in this gene.  [00:02:17] Nicky: And we found some in the US, some in, in Australia, some in France and Germany. So very, very quickly built up this, this complete picture of variants in this gene, causing this rare neurodevelopmental disorder   [00:02:35] Sharon: of people finding it at the same time, what, what did that feel like?  [00:02:39] Sharon: Like, give us a ense of, like, that compelling, "We think we found something." What was that like?   [00:02:46] Nicky: I didn't believe it initially. You're always told when you're a scientist that if it looks too good to be true, it's, it's not true, and this basically lit up like a beacon. There's this particularly one DNA change that we found in, um, I think it was about 40 different individuals, and we don't really expect that to be the case.  [00:03:04] Nicky: We normally expect these genetic variants to be somewhat randomly distributed across the genome. So to find 40 individuals with exactly the same DNA change was very, very surprising. So initially, I didn't believe it. The whole team, including folks at Genomics England, spent a lot of time trying to check that these variants were real and tried to disprove the result, tried to find any other way in which any other reason why we would be seeing this.  [00:03:31] Nicky: And after a little while, we had to concede that we couldn't disprove it, so it must be true, and that, that was a very exciting moment.   [00:03:38] Sharon Jones: Was it the case that over in the States, the exact same thing was happening?   [00:03:42] Nicky: I think we found out when we were both speaking at the same conference, actually. So we didn't actually know that we, that we'd both come across the same result.  [00:03:49] Sharon: If you want to check out our previous episode on this initial discovery, you'll find a link to it in the episode description.  [00:04:00] Sharon: So Christina, tell us a bit about your situation, your family situation, and for our listeners, what ReNU is.   [00:04:05] Christina: So ReNU is, to us, is a family. We got a family when we got diagnosed with  ReNU. Beau - Arabella - already had other diagnosises, but people had always said to us, "Oh, there's something else. There's something else.  [00:04:20] Christina: We're not sure what it is, but there will be something." And then when we got  ReNU, it was like, "Oh, okay, amazing. What do we do? What is it?" Because there was only four lines on Wikipedia when we first got told about it, and there wasn't anything that, ourselves could find. So we kind of went onto Facebook and looked for groups and different people, and there wasn't really anything except for Jess in America.  [00:04:46] Christina: And then it grew, and then it kind of, we ended up finding more people in the UK and, like, all over. But for us, it didn't really change how we perceived Beau. It just made life easier. Like, knowing there was other families out there that we could find advice from and support from, and that we kind of knew what we had and going forward then, like, finding researchers and connecting with everybody.  [00:05:15] Sharon: Yeah. And for those who don't know, can you talk about what  ReNU is? Like, how does it affect Beau?   [00:05:20] Christina: So with Beau and  ReNU , it affects her with developmental delay. She's non-verbal. She's incontinent. She suffers for walking, so she can do a little bit of walking, but she needs a wheelchair It affects her mood swings.  [00:05:38] Christina: It just affects everything. Although she has it, she's still a happy, outgoing, very stubborn, just kind of "keep-going" child. But it affects her in everything, like eating, sleeping.   [00:05:51] Sharon: It sounds like life is, you know, very challenging on a day-to-day basis, lots of considerations. How did you feel when you finally got this diagnosis after years of wondering and waiting, not knowing?  [00:06:02] Christina: Finding out was, like, really emotional because it was like, "Oh, wow, so we have this diagnosis. Now what? What are we looking for? What's going to happen?" And then we were kind of like, "Oh, but there's not many people that had it." Because we found out in the August, so then it was trying to find people. But it has been life-changing to know that we're not on our own and that there is other people around.  [00:06:28] Sharon: Yeah, tell us a bit more about that. How did it feel to get that diagnosis?   [00:06:32] Christina: It was quite strange because our pediatrician rang us and said, "Oh, we've got a diagnosis. She's got RNU4-2." And we were like, "Okay, so what's that?" And she's like, "I don't really know. There's four lines on Wikipedia at the moment."  [00:06:46] Christina: She goes, "I don't like Wikipedia," but we still kind of... That was it. So then we went on a mission to find and look for where we could find support and find other families.   [00:06:58] Christina: At that point, I didn't know of anybody in the UK, and my husband found Jessica in America. What then, kind of, we had somebody to talk to, and then families in the UK kind of started appearing.  [00:07:09] Christina: So we ended up getting a whole network of people to bounce ideas off and talk about how it affects their children and what's for the future and things like that. It was really nice.   [00:07:22] Sharon: Yeah, yeah, I can imagine. So Ana Lisa, how do these findings contribute to a growing understanding of the condition?  [00:07:29] Ana Lisa: So this was an amazing discovery. Although we're finding new rare conditions quite often, not on this sort of scale. It was also an amazing finding because a lot of the genes that we know are associated with rare conditions are genes that encode proteins, and in the 100,000 Genomes Project, we were doing whole genome sequencing, and Nicky and her team were looking in the parts of the genome that don't encode for proteins.  [00:08:03] Ana Lisa: And so this was, uh, exciting from that point of view as well. So the vast majority of our genome, more than 98%, does not encode for proteins, but it's relatively unexplored. And if we think about our genome and the letter code that makes it up, which is the manual for how our bodies are built, and grow and function day-to-day.  [00:08:30] Ana Lisa: Those 3 billion letters, if you, if you printed them out in a 12 font regular print, it would stretch so far you could fly, I think, from London to Paris several times, maybe three times or something. And so, this actual gene is a very, very small gene, less than 150 of those letters. So again, it was incredible to find that by comparing across many, many different genomes in the National Genomic Research Library.  [00:09:00] Ana Lisa: Going back to your question about a growing understanding of a condition, it was a completely new condition, but it also opened up looking at other related genes and actually now more disorders that are being found, like RNU2-2 by colleagues in the US, and that might be one of the most common recessive genetic neurodevelopmental disorders.  [00:09:27] Ana Lisa: So it's really, really opened up this understanding about these types of disorders and also those non-coding parts of our genome and the power of collaboration and being able to look across many different whole genomes at the same time.   [00:09:44] Sharon: Yeah. And Nicky, you've been involved in much of this research journey.  [00:09:50] Sharon: What have been some of the biggest advances or learnings for you so far?   [00:09:55] Nicky: I think the biggest one is just how common, or how frequent, these disorders are. So what we discovered recently in terms of new genetic disorders were rarer and rarer conditions, and that's why we hadn't seen them before. But from going from looking at the protein coding genes to looking at these non-coding genes, we found something that was as frequent as disorders that were found in the early 2010s when we first had large-scale sequencing projects that looked at the protein coding genes.  [00:10:26] Nicky: So that was really, really surprising. And we now know there's this whole class of disorders. So RN4-2, this gene encodes this -- Well, it produces this small RNA that works in this huge molecular machine that is called the Splicer Zone, that mediates the processing of most of the other genes across the genome.  [00:10:50] Nicky: And there are lots of these little RNAs that work in this molecular machine that are called the small nuclear RNAs or the snRNAs And we now know that there are a whole multitude of different disorders associated with different ones of these spliceosomal small nuclear RNAs, and that's really incredible.  [00:11:09] Nicky: And for RNU4-2 itself, we also now know that there are, there's not just RENE syndrome, uh, which is a dominant disorder caused by chance de novo variants that are newly arisen in a child, but also a recessive disorder where a child inherits one, uh, gene mutation from each parent. And also another finding that there is a region of the gene where we find DNA changes that cause retinitis pigmentosa, so a retinal phenotype. So we now know a huge amount more about this single gene, but also all of this different class of genes or RNAs that work in the same molecular machine, uh, which is, is really fascinating biologically   [00:11:52] Ana Lisa: Vicky, while you were talking, I was thinking about the splicing and how a bit like this podcast recording, you're going to splice out the kind of extreme, the noise that wasn't supposed to be there.  [00:12:03] Ana Lisa: And actually, you could make slightly different versions of this podcast, couldn't you? And that's, that's what, what's happening in our bodies for a lot of our genes that, that the kind of output can be varied slightly.   [00:12:15] Sharon: So Christina, how has collaboration been involved across the community and with researchers?  [00:12:21] Sharon: You know, what sort of things have you been doing?   [00:12:23] Christina Cox: So it's amazing to have researchers that are so open and amazing to work with the families. So at the moment, we are just putting together like a panel to discuss questions from families, to then be able to answer families, to work very closely with the researchers for what things are happening and the progress within.  [00:12:47] Christina: It's just amazing to be able to work with researchers. They're just fantastic.   [00:12:52] Sharon: And from what I understand, like, you, you have a charity, don't you? Can you tell us a bit more about that and how that came about?   [00:12:58] Christina: So we have ReNU Syndrome UK, and it came about as there was a group of us parents that were like, we wanted to be able to support other families, knowing what it was like for us when we first started.  [00:13:12] Christina: It was very difficult. So we wanted to start a charity that can support families and signpost them, give them the opportunity to have family meetups once or twice a year, so we can work with scientists and specialists to keep everybody in the community, like the ReNU family, up to date. But being able to connect with so many families, because a lot of the doctors don't really know of ReNU Syndrome yet.  [00:13:46] Christina: So if we have a problem or a question, we put it in the WhatsApp group, and then somebody can answer it because they've been through it, or they, they've just asked the question. So it's just an amazing resource for everybody   [00:14:02] Sharon Jones: That sounds amazing, and it sounds like you've all obviously become experts by experience.  [00:14:04] Sharon: So, like you say, you kind of know more, you know, as the science develops, but you're living it every single day   [00:14:10] Christina: It's kind of, you go into the hospital and they're like, "Oh, what's ReNU Syndrome?" And then you're like, "Ugh." So, then you just have to say it all. But, and then it's kind of them bringing, teaching new people who don't know about it in the medical professional.  [00:14:26] Christina: We always give them the website so that they can go and then find, but being able to put more medical stuff on the website, it just helps everybody, and it's just broadening it out to as many people as possible. Because there's still a lot of people undiagnosed with RNU syndrome. It's, now it's easier to be signposted, but it's just keeping that connection.  [00:14:49] Sharon: Yeah. And, and from what I understand, it's got quite an interesting sort of origin of a name, RNU. Where did that... Do you know much more about where that came from?   [00:14:57] Christina: So, Nicky is the amazing person who, um, sorted the name and um, the origin. So, I'll pass that over to Nicky to answer that question because she's just amazing   [00:15:11] Nicky: Uh, so the name ReNU syndrome is an interesting story.  [00:15:13] Nicky: So, a lot of disorders or diseases are named after people. So, we all know Alzheimer's, Parkinson's, etc. And they're often scientists or clinicians that have spent a lot of time working on them. I think that's a little bit odd. I don't think it's the first thing that somebody should know about a disorder, is the name of somebody who's, who's worked on it or studied it.  [00:15:36] Nicky: But they're a very, it's very hard to find an alternative. When we were initially doing the press release around our paper, we had a quote from one of the mothers, Nicole Cedar, who has a, a wonderful daughter called Mia Joy, and she said that within their family, they like to refer to RNU, to RNU4-2 as ReNU, which is a really nice play on the RNU in the gene name.  [00:16:00] Nicky: So then I had an idea, okay, let's just change the spelling to make the, the kind of big R, little E, large N-U, then it would link to the gene name, but also would be a name that speaks to hope and the renewed hope of being given a diagnosis.   [00:16:13] Sharon: Yeah, absolutely, and that's a great, a great story and a great way of kind of making it feel like there is, there is always hope.  [00:16:20] Sharon: So, you know, Nicky, you're now part of the patient community. In a way. You know, so how does it feel to be on that other side of it from that sort of research perspective and now kind of, you know, in that, in that community?   [00:16:34] Nicky: It's amazing. I've got a new family as well. It's not, not just Christina and everybody.  [00:16:39] Nicky: I kind of, I'm a, a basic scientist. I'm not a clinician. Up until this point, we've always been one or two steps removed from actually interacting with the families themselves. Um, so my life has changed an awful lot over the last couple of years, uh, where now, um, I kind of talk to Christina or the folks in the US, really regularly, kind of on a weekly basis.  [00:17:02] Nicky: Um, so that's really different. And I just kind of want to highlight just what these families have achieved. So it's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and and the others.  [00:17:26] Nicky: Um, there's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France.  [00:17:46] Nicky: So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible. And they've got families, they've got so many researchers that are interested in the cause. They're interacting with the pharma companies. They've upskilled themselves to learn so much about genetics.  [00:18:04] Nicky: And it's just an absolutely incredible thing to watch. They're so, so inspiring.   [00:18:09] Sharon: And from what I understand, Christina, you feel, you know, very passionate about Nicky in the same way, about your paths crossing in this way.   [00:18:16] Christina: Oh, my, yes. Every time I see Nicky, I've met her a couple of times, like, in person now, I just cry.  [00:18:22] Christina: I literally, we saw her at the UK meetup, and she walked in the door, and that was it. I was done. I was like, it's just meeting somebody who has changed so many lives and brought a community to other families. It's just amazing. And the support that Nicky's giving us weekly, daily, is just amazing. It is just life-changing for all of us.  [00:18:49] Sharon Jones: It's such a powerful connection. So Ana Lisa, why is collaboration between researchers, clinicians, and families so valuable in the rare disease research space? You know, and what role do large scale research projects and data sharing play in discoveries like this?   [00:19:06] Ana Lisa: Collaboration is completely incredibly valuable and for progress in the rare disease space where there's just so much still to learn.  [00:19:16] Ana Lisa: So more than half of patients and families where, uh, they're seeking a potential diagnosis, we're not yet able to, to find one, and there's so much yet that we still need to learn, and collaboration in so many different spaces and directions and across different spheres enables this progress. So for example, the fact that we have a really connected, uh, National Health Service and really close working between the NHS and Genomics England so that we can, for those patients and families that, that consent to their de-identified data being shared in the National Genomic Research Library, be able to work with many, many different researchers, uh, whether they're academic, institutions, industry, and try and find all the patients that could benefit from a new diagnosis and, uh, potentially new therapies in future clinical trials.  [00:20:21] Ana Lisa: And without that collaboration, it would be really, really hard to find all those people So because we sort of have a clinical research interface where we can go back to clinical teams and therefore to patients and families, even if there's a really, really ultra-rare condition with very few people known to have it that could be under different specialties in different regions, we would be able to contact their clinical team.  [00:20:51] Ana Lisa: So I think that, that collaborative working with the NHS is really powerful across researchers worldwide. Like in this example where a group in Oxford and a group in US were able to make this finding and then all the other findings that are coming from it. And really, without being able to compare across thousands of genomes, one wouldn't have been able to see this, this particular signal and see that there were more than 100 patients, and that was really powerful.  [00:21:20] Ana Lisa: If you just had one genome, you could never have made this novel discovery. I think the other thing is that, and Nicky will say that, you know, she, she then contacted her collaborators who also had access to, to, to data that had been shared by other families and could compare. And again, it's a whole sort of network across the globe.  [00:21:41] Ana Lisa: And we know that there are going to be many more diagnoses to be found. But also, um, I think collaboration will allow us to find new, new treatments. So if we can start to design treatments that target the DNA and RNA at, at source, then actually you could collaborate and say, "Well, this type of genetic mechanism could be targeted in the same way, potentially across even more than one rare condition and reach even more patients."  [00:22:13] Ana Lisa: And actually the power of collaboration across the ecosystem is that hopefully we'll end up with a pathway that can actually go from finding a new genetic finding, like Nicky and her team made, to helping all the people who could benefit from a diagnosis, having one, and then can one develop a treatment and get it to as many patients?  [00:22:42] Ana Lisa: And, and I think that will really demonstrate the power of collaboration.   [00:22:47] Sharon: Yeah. Absolutely, and it can only, you know, benefit those families who have to wait such a incredible amount of time.   [00:22:55] Ana Lisa: There's been such a diagnostic odyssey, and as more diagnoses are made, it becomes obvious that there's, uh...  [00:23:03] Ana Lisa: and it was, it's already well-described, the therapeutic odyssey. Um, but hopefully these sort of novel understanding of our genome and opening up new biological avenues to treat, um, hopefully will also enable many more new treatments to be developed.   [00:23:21] Sharon: Absolutely, and that is the key word there is, is that hope.  [00:23:24] Sharon: So, so looking ahead, Nicky, what developments are you most hopeful about over the next few years?   [00:23:31] Nicky: That's a difficult question. There's so much, so much happening. One thing is that we are gearing up to do large scale studies across the world to understand more about the progression of ReNU. So you might call them large scale natural history studies or just large scale profiling studies where we can do a range of different tests on ReNU patients and, and monitor them over time.  [00:24:02] Nicky: So do those at regular, regular intervals over time so we can see what the progression looks like. And that's really important for trying to think about whether we can treat RNeU syndrome. And on that note, I'm very also excited about the potential for therapeutics. There's lots of people all around the world, both, uh, in academic settings, but also in pharma companies trying to work out whether this is something that we can treat.  [00:24:30] Nicky: There's some very promising early data to show that we can selectively remove the RNA containing the mutation from cells, uh, leaving the copy of the RNA that doesn't contain the mutation intact so that can do the correct function. And biologically, we think this should be an effective treatment.  [00:24:54] Nicky: Um, so we can do that in cells in a dish. We don't yet know whether we can do that in a patient with ReNU. Uh, but that's really, really promising early data. Um, so I'm very hopeful about where that, those studies might lead.   [00:25:08] Sharon: And Ana Lisa, what role will genomics continue to play in improving understanding and care for rare conditions like this?  [00:25:15] Ana Lisa: So following on from what Nicky said, I think the really big hope is that we will be able to develop many, many new treatments collaboratively across the world. And whether these are individualised treatments made for one patient but then shared because we can find perhaps other patients who could benefit from the same treatment, whether we understand the genetics better so that we can design treatments from the start that will work for a lot of patients.  [00:25:46] Ana Lisa: So I think there will be sort of fancier and fancier ways of targeting rare conditions. And right now we're in a phase where the ecosystem is trying to work out how could we make an end-to-end pathway with initiatives like the Rare Therapies Launchpad in the UK, and that's going to require truly collaborative working.  [00:26:08] Ana Lisa: No single organisation can do that. And I think having these incredible use cases will be really powerful for turbocharging the development of these pathways. And the hope is that once you've worked out how to do this across a range of different rare conditions, that one might reach a stage where one could do that a lot faster for many other rare conditions.  [00:26:35] Ana Lisa: Because at the moment they're so underserved in terms of treatments available and there's a huge gap between being able to make a genetic diagnosis and then having treatments. The big hope is that understanding the genetics better will help to open up new pathways to treatment. I do hope that we'll also understand other aspects.  [00:27:02] Ana Lisa: So for example, it might be that understanding the genetics better also helps us to understand different ways a condition might manifest in somebody, why it may be different from one person to another, why somebody might be more mildly affected and somebody perhaps more severely. And that might, may also help us to understand ways to treat a condition by getting, gaining these insights which are, are useful in and of themselves and may also lead to new therapeutic, uh, possibilities.  [00:27:36] Ana Lisa: I think that would be one of my hopes that a lot of these areas overlap and lead to real benefit for patients and families, that we can translate that hope into concrete improvements in treatment for rare conditions.  [00:27:57] Sharon: Do you have a sense of time, how long you think this could all take, that amount of collaboration?  [00:28:06] Ana Lisa: Yeah, and I think this is actually another reason why sometimes it's quite tricky to make progress in this area because being able to predict those timelines is notoriously difficult when you look back historically. I'd like to hope that we're on the cusp of having an explosion of novel treatments that can target DNA and RNA, for example, or treatments that target something in the underlying biology that we now understand that we didn't before.  [00:28:34] Ana Lisa: And I do think that there is going to be a big shift. But I think that the sort of confidence intervals around how big that range of time might be is very hard to predict. And that's why I think Christina and Nicky being able to share these stories and about their collaborative working really shines a spotlight on, on what could be done and how progress can happen.  [00:29:02] Ana Lisa: That's really exciting. The other day at a conference, someone from industry stood up and said, "Oh, actually, we set up a clinical trial in the UK because we knew there were patients who could benefit from our work in the National Genomic Research Library," and that was really exciting for us because that's what we want to do; move forwards the opportunities for treatment for patients.  [00:29:28] Sharon: And so finally, Christina, as a parent and member of this community, what are your hopes for the future, and what would you say to families who may still be searching for answers today?   [00:29:39] Christina: It is a long journey, but there is the support and the help out there. If you have any inclination that you think you might have ReNU, reach out to your paediatrician or your doctor to see if you can get your genetic testing done because it's fighting to get the test, to go to people and say, "I think this is what we may have. Can we look into getting it tested?" And reach out to other families and the website and things because it's all about community and supporting and helping people find that diagnosis.   [00:30:16] Sharon: Thank you, Christina, and we'll put the website in the episode description. A huge thank you to Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares for joining me today and sharing their insights and experiences. To learn more about ReNU Syndrome, visit renusyndromeuk.org. If you'd like to hear more stories about the people, research, and discoveries helping to shape the future of healthcare, subscribe to Behind the Genes on your favourite podcast app.  [00:30:45] Sharon: Thank you for listening. I've been your host, Sharon Jones. Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan, and Katie Revell at Bespoken Media. 

Dr. Fredric Abramson is the CEO of Golden Thread Technology. He started the company to harness the power of DNA analysis to lower athletic injury risks. His approach is built around an AI machine learning framework that uses each athlete's unique genetic blueprint to identify important differences in body structure, nutrition requirements and performance behaviors. The mobile interface provides ongoing, real-time, practical, personalized ongoing collaborative inputs and insights to each athlete's actions that will lower the risk. His approach is based on his work as a pioneer in creating artificial intelligence applications to solve health and medical problems. He holds a patent for A System and Method for Evaluating and Providing Nutrigenomic Data, Information and Advice (7877273). This patent covers the use of wireless to match a person's genetic data with nutrition ingredients to lower the risk of disease. Fredric has been an adjunct professor of biotechnology at Johns Hopkins University since 1996. His courses include the Economics of Change in Biotechnology, Creating the Biotechnology Enterprise, and Financial Management in Biotechnology. Previously he held full time faculty appointments at the American University Kogod College of Business and the University of Kentucky College of Medicine. Fredric holds five higher education degrees. These include his Ph.D. in Human Genetics and Population Planning from the University of Michigan, his Master of Science in Management from MIT, where he was an Alfred P. Sloan Fellow, and his B.A. in mathematical biology from the University of Pennsylvania. His M.S. in Biology is from the University of Rochester and his J.D. is from American University. Fredric's service has been recognized by international bodies. He was the Chair of the Business Section of the Software Publishers Association, and was the designated U.S. representative to the European Union Fifth Framework on NutriGenomics. Links https://www.goldenthreadtech.com https://www.linkedin.com/in/fredricabramson/ https://www.alignable.com/gaithersburg-md/changing-the-game-for-those-who-play-the-game?user=12124405 If you're enjoying Entrepreneur's Enigma, please give me a review on the podcast directory of your choice. The show is on all of them and these reviews really help others find the show. iTunes: https://gmwd.us/itunes Podchaser: https://gmwd.us/podchaser TrueFans: https://gmwd.us/truefans Also, if you're getting value from the show and want to buy me a coffee, go to the show notes to get the link to get me a coffee to keep me awake, while I work on bringing you more great episodes to your ears. →  https://ko-fi.com/entrepreneursenigma Support me on TrueFans.fm → https://gmwd.us/truefans. Support The Show & Get Merch: https://shop.entrepreneursenigma.com Want to learn from a 15 year veteran? Check out the Podcast Mastery Community:https://www.skool.com/podcasting Follow Seth Online: Instagram: https://instagram.com/s3th.me LinkedIn: https://www.linkedin.com/in/sethmgoldstein/ Seth On Mastodon: https://indieweb.social/@phillycodehound The Marketing Junto Newsletter: https://MarketingJunto.com Leave The Show A Voicemail: https://podcastfeedback.com/entrepreneursenigma Learn more about your ad choices. Visit megaphone.fm/adchoices

Send us Fan MailFor decades we've measured obesity using one simple number on a scale - but what if that's the wrong metric? Today, one of the world's leading experts in genetics explains why the future of obesity medicine may not be about losing more weight, but about losing the right kind of fat while preserving the muscle that keeps us healthy.Dr. Erik Ingelsson, MD, PhD is a physician-scientist and internationally recognized leader in human genetics, genomics, and metabolic disease research. He currently serves as Chief Scientific Officer at Wave Life Sciences ( https://wavelifesciences.com/ ), where he leads the development of next-generation RNA medicines designed to address major unmet medical needs.Before joining Wave, Dr. Ingelsson served as Senior Vice President and Head of Target Discovery at GSK, where he led large-scale efforts integrating human genetics, functional genomics, computational biology, and molecular science to discover and validate new drug targets across therapeutic areas.Prior to his transition into industry, Dr. Ingelsson was Professor of Medicine at Stanford University, where his laboratory used human genetics and functional genomics to uncover new biological mechanisms underlying insulin resistance, obesity, metabolic disease, and cardiovascular risk.Over his career, Dr. Ingelsson has authored more than 400 peer-reviewed scientific publications and has become one of the leading voices in translating insights from human genetic variation into new medicines.At Wave, Dr. Ingelsson  is helping pioneer a new approach to obesity treatment: targeting the biology of harmful fat accumulation rather than simply focusing on the number on the scale.Today we'll discuss the genetics behind obesity, the promise of RNA medicines, why visceral fat may be the true therapeutic target, and whether the next generation of obesity treatments will move beyond weight loss toward healthier body composition.#Obesity #GLP1 #WeightLoss #VisceralFat #MetabolicHealth #RNAMedicine #Genetics #PrecisionMedicine #Longevity #HeartHealth #Diabetes #HumanGenetics #Biotechnology #DrugDiscovery #MuscleHealth #BodyComposition #CardiometabolicHealth #WaveLifeSciences #SciencePodcast #ProgressPotentialPossibilitiesSupport the show

The weaker sex? The fairer sex? The female body has often been viewed as less strong and less powerful than that of men. Datshiane Navanayagam meets two female scientists who are challenging that assumption. They reveal the ways in which women's bodies actually come out on top.Starre Vartan is an Australian science journalist, based in America. In her book The Stronger Sex she explores the different areas where women have the physical edge over men, from endurance events to immune response.Marlo Möller is Professor of Molecular Biology and Human Genetics at Stellenbosch University in South Africa. Her research explores why women appear to be better at fighting off and surviving diseases like tuberculosis.Produced by Hannah Sander(Image: (L) Starre Vartan, credit Starre Vartan. (R) Marlo Möller, credit Annecke Vermeulen.)

We're joined by first-time guest Lacey W. Heinsberg, PhD, RN, on this week's episode of the Faculty Factory Podcast to examine many of the ethical considerations surrounding the widespread use of generative AI tools (ChatGPT, Google Gemini, Claude, etc.). Dr. Heinsberg is Assistant Professor of Health Promotion & Development in the School of Nursing, and of Human Genetics in the School of Public Health, at the University of Pittsburgh. She also serves as Co-Director of the Genomics of Patient Outcomes HUB in the School of Nursing. It feels difficult to opt out of using generative AI without there being serious consequences to our careers, yet as we learn in today's episode, it's a deeply personal choice whether to use it and how much to use it. Personal Code of Conduct Dr. Heinsberg created her own personal code of conduct about using generative AI and discussed this in the interview today. Some of its themes include: "Enhance it, don't replace it" and staying aligned with her own institution's AI use policy. There is almost a certain slippery slope facing us all when it comes to an overreliance on generative AI. Writing is thinking, so if AI is writing for us, are we thinking more deeply? Is this harming our critical thinking? "When does trust but verify become ‘why bother using it at all?", she said. Broaching Tough Questions No one has all the answers to this, but it is important to be discussing this with your teams and to embrace these tough questions. Other recurring themes in this episode include: Authenticity.  Integrity.  Transparency (and where the line is between ghostwriting and flat-out generation of unoriginal text). If you're not sure where to get started on your code of conduct policies, or if you have any other questions, you can reach out to her directly via email: law145@pitt.edu.

Some genetic variants may help explain why different psychiatric disorders share overlapping biology. In this episode of Speaking of Mol Bio, host Steve Lewis speaks with Jess McAfee, PhD, and Alejandro Gomez from the University of North Carolina at Chapel Hill about their work studying pleiotropic variants associated with psychiatric disorders. Jess explains how genome-wide association studies can identify regions of the genome linked to disease risk, but often cannot pinpoint which specific variants are functionally important. Her work used massively parallel reporter assays, or MPRAs, to test whether different alleles in non-coding regulatory regions alter gene expression. Alejandro then describes how CRISPRi can help take the next step by targeting those variants in the genome and asking which nearby genes respond. Together, these approaches provide a clearer path from statistical genetic association to functional biological insight. The episode also highlights two early-career scientists whose paths into molecular biology were anything but linear. Jess moved from plant genetics to human genomics, while Alejandro shifted from chemistry and industry into CRISPR-based neuroscience research. Along the way, they reflect on mentorship, lab culture, persistence, AI, and the excitement of working with technologies that are still rapidly evolving. NOTE: This episode may contain general information relating to various medical conditions or their treatment.  This information is provided for informational purposes only and is not meant to be a substitute for advice provided by a doctor or other qualified health care professional.  Patients should always consult with a doctor or other health care professional for medical advice or information about diagnosis and treatment. Subscribe to get future episodes as they drop and if you like what you're hearing we hope you'll share a review or recommend the series to a colleague.  Visit the Invitrogen School of Molecular Biology to access helpful molecular biology resources and educational content, and please share this resource with anyone you know working in molecular biology. For Research Use Only. Not for use in diagnostic procedures.

Reshaping the Future of Healthcare– Genetic Screening with Emily Goldberg of JScreen On this episode of Her Health Compass, Heather and Yonni explore something with the potential to reshape the future of healthcare — genetic screening. Many people assume genetics only matter when there's a strong family history of disease, but advances in screening show that understanding your genetic risk can guide prevention, early detection, and even life-saving decisions. Heather and Yonni are joined by Emily Goldberg of JScreen, a national nonprofit providing accessible genetic testing and education. Together, they dive into how genetic screening actually works, who should consider it, and what your DNA can reveal about risks for hereditary conditions like breast cancer. They also unpack the biggest misconceptions about genetic testing — and how knowing your genetics can empower listeners to take real control of their health. Emily Goldberg serves as the Director of Genetic Counseling Services at jscreen, where she is dedicated to helping individuals understand and manage their genetic health. With dual bachelor's degrees in biology and psychology from Brandeis University and a master's degree in Human Genetics from Sarah Lawrence College, Ms. Goldberg has been a certified genetic counselor since 2011. Prior to joining jscreen, she worked at Montefiore Medical Center in the Bronx, specializing in prenatal and cancer genetics. In addition to her role at jscreen, Ms. Goldberg is committed to education, serving as an Instructor at the Albert Einstein College of Medicine and adjunct faculty at Sarah Lawrence College, where she teaches and mentors future genetic counselors. Her expertise and dedication make her a key member of the jscreen team. Find Yonni & Heather here https://www.herhealthcompass.com/

As You Wish Talk Radio with James Gilliland The Incoming Wave Activating Source Intelligence Within and David Clements Earth Is Shaking, and James Gilliland Sets the Stage In this episode of As You Wish Talk Radio, host James Gilliland opens by describing a planet in upheaval, pointing to earthquakes, volcanic activity, and dramatic earth changes as signs of a larger energetic birth process. He welcomes guest David Clements, whom the transcript renders as “David Clementus,” and describes him as a “living energetic physicist” who bridges science, energy, consciousness, and multidimensional contact. James frames the episode as a continuation of their previous conversation, saying there was far more to cover about the incoming wave, the Arcturians, galactic teams, and what is happening to humanity and the planet. A Symphony of Waves Moving Through Creation David explains that, beginning near the end of the previous year, his team began speaking clearly about a series of powerful energetic waves arriving in sequence. These waves, he says, are not random; they are layered, intelligent, and coordinated through galactic assistance, solar activity, the fabric of the solar system, the core of the Earth, and the heart intelligence within human beings. He describes the process as a multidimensional symphony designed to break down old structures, purge dense historical energy, and help people regain dormant multidimensional memory, abilities, and deeper knowing. Ascension Symptoms, Shakeups, and the Pressure to Release James and David connect these waves to the intense symptoms many people are experiencing, including emotional purging, energetic pressure, exhaustion, and upheaval. David says the waves are breaking down old veils and energetic structures that prevent people from perceiving, feeling, and emitting multidimensionally. James adds that people are choosing between two paths: projecting blame and victimhood, or taking responsibility, healing old wounds, and clearing the past. He sees society splitting around these choices, with universal law beginning to anchor more strongly through peace, brotherhood, love, individual freedom, and prosperity for all. When the False Self Starts Falling Away David says the incoming waves are peeling away layers of personality, agendas, false identities, and survival-based patterns that people may not even realize they carry. He explains that humanity is moving toward a more open, multidimensional state where dense agenda-driven energy cannot continue in the same way. James echoes this by saying much of what people act out is not who they truly are, but rather the result of childhood trauma, past-life trauma, or unseen negative influences. Both emphasize that the deeper work is to clear these layers, stop projecting them onto others, and return to the truth of the heart. Heart Intelligence as the Real Operating System A central theme of the episode is the movement from mind-centered living into heart intelligence. David says the Arcturians and his own teams continually emphasize heart-centeredness because the heart perceives what the mind cannot. As a former physicist and mathematician, he says he once lived primarily in the head, but had to unlearn rigid mental structures in order to open into the heart. James expands on this by discussing heart-centered science, the heart as a vortex, the soul's connection near the heart, and the idea that the mind is only a tool, while the heart holds multidimensional knowledge and the true connection to Source. Source Energy, Longevity, and the Power of Joy James and David also discuss the importance of fun, joy, and Source connection. James says people forget to have fun and that a life without joy is not sustainable for the body or spirit. David agrees, saying his teams have told him not to continue spiritual or energetic work when he is no longer enjoying it, because pushing from the head reduces the energy. They describe Source intelligence as a living waterfall of vitality that can nourish the body, cells, and reality itself when the heart is open. David says advanced beings are able to maintain or change their bodies through this deep Source connection. Ancient Gods, Human Genetics, and the Fear of Humanity's Potential James then moves into his research on ancient tablets, creation stories, the Anunnaki, Enlil, Enki, ancient gods, and the recurring global stories of beings descending from the heavens to teach humanity. He says many cultures tell similar stories of gods or advanced beings bringing knowledge such as agriculture, astronomy, and civilization, followed by collapse, flood, destruction, or forgetting. James argues that some ancient beings feared humanity because humans had open hearts, powerful genetics, and the ability to receive Source energy directly. He frames human DNA as evolving, communicating with the stars, and carrying the genetics of advanced civilizations. The Return of the Feminine and Masculine in Sacred Balance David adds that his teams have shown him a new merging of feminine and masculine energetics. He says this is not simply about men and women getting along, but about a deeper internal and planetary shift. The old division between masculine and feminine is being replaced by a layered, seamless, non-divisive integration where a powerful feminine core and masculine expression work together harmoniously. James connects this to ancient traditions in which male and female divine counterparts were once recognized together, before patriarchal systems diminished the feminine and distorted the original balance. Why Parasitic Systems Cannot Survive Source Intelligence The conversation becomes more pointed as James and David discuss parasitic consciousness, negative extraterrestrial influences, power-seeking behavior, and the breakdown of hierarchical systems. David says beings or systems that lose their Source connection can no longer generate life energy from within, so they begin taking from others through domination, harvesting, manipulation, or control. James relates this to what he sees in the UFO community, where competition, jealousy, backstabbing, and information-stealing replace cooperation and shared awakening. Both argue that true contact with advanced beings begins with personal alignment, integrity, heart-centeredness, and one's own direct Source connection. Contact, Projection, and the Work That Must Be Done First James notes that people who have not done their inner work may project unresolved wounds and trauma onto high-frequency beings, labeling them evil or dangerous because their own material is being triggered. David agrees, explaining that even during biolocation experiences with ships or advanced beings, his teams sometimes tell him to return because the energies are too high and could bring up more than he is ready to process. Both present contact as something that requires maturity, humility, clearing, and alignment with the higher self, rather than ego, competition, or sensationalism. Ancient Collapse, Modern Cities, and the Need for Moral Foundation James draws comparisons between ancient stories of civilizations that devolved and modern cities he sees as losing moral and energetic coherence. He says societies on a downward spiral become predatory, take from others, and lose integrity, and he suggests that nature or higher intelligence eventually steps in to correct severe imbalance. David responds that parasitic energetic structures can behave like organisms trying to survive, but Source intelligence dissolves them when people return to the heart. The two frame current upheavals not as punishment, but as a clearing of infected or distorted patterns that cannot continue into the next stage. The Fire Hose of Light and the Path Beyond Drama Near the end, James and David describe the incoming wave as a kind of fire hose of light, bringing in enough force to dissolve outdated systems, expose division, and accelerate transformation. James references Yeshua as an exemplar of the path into unconditional love, forgiveness, and union with the Most High or Source. David says the goal is to strip away falsity so truth can emit as it is meant to. James closes by saying humanity is in a crash course in omnipresence, where divisions are falling away and people are being pushed back into the heart, into Source, and into who they truly are. Closing with an Open Mind and a Loving Heart The episode closes with James thanking David and suggesting that a third conversation will be needed because the topic is still not exhausted. James expresses interest in creating a new kind of conference that brings together heart-centered speakers from different angles, including the divine feminine, physics, contact, and spiritual awakening. He ends by reminding listeners to keep an open mind, a loving heart, and pure intent, and not to get caught in drama. The final message is that the old systems will run their course, but the heart-centered path is where people should remain anchored.

As You Wish Talk Radio with James Gilliland The Incoming Wave Activating Source Intelligence Within and David Clements Earth Is Shaking, and James Gilliland Sets the Stage In this episode of As You Wish Talk Radio, host James Gilliland opens by describing a planet in upheaval, pointing to earthquakes, volcanic activity, and dramatic earth changes as signs of a larger energetic birth process. He welcomes guest David Clements, whom the transcript renders as “David Clementus,” and describes him as a “living energetic physicist” who bridges science, energy, consciousness, and multidimensional contact. James frames the episode as a continuation of their previous conversation, saying there was far more to cover about the incoming wave, the Arcturians, galactic teams, and what is happening to humanity and the planet. A Symphony of Waves Moving Through Creation David explains that, beginning near the end of the previous year, his team began speaking clearly about a series of powerful energetic waves arriving in sequence. These waves, he says, are not random; they are layered, intelligent, and coordinated through galactic assistance, solar activity, the fabric of the solar system, the core of the Earth, and the heart intelligence within human beings. He describes the process as a multidimensional symphony designed to break down old structures, purge dense historical energy, and help people regain dormant multidimensional memory, abilities, and deeper knowing. Ascension Symptoms, Shakeups, and the Pressure to Release James and David connect these waves to the intense symptoms many people are experiencing, including emotional purging, energetic pressure, exhaustion, and upheaval. David says the waves are breaking down old veils and energetic structures that prevent people from perceiving, feeling, and emitting multidimensionally. James adds that people are choosing between two paths: projecting blame and victimhood, or taking responsibility, healing old wounds, and clearing the past. He sees society splitting around these choices, with universal law beginning to anchor more strongly through peace, brotherhood, love, individual freedom, and prosperity for all. When the False Self Starts Falling Away David says the incoming waves are peeling away layers of personality, agendas, false identities, and survival-based patterns that people may not even realize they carry. He explains that humanity is moving toward a more open, multidimensional state where dense agenda-driven energy cannot continue in the same way. James echoes this by saying much of what people act out is not who they truly are, but rather the result of childhood trauma, past-life trauma, or unseen negative influences. Both emphasize that the deeper work is to clear these layers, stop projecting them onto others, and return to the truth of the heart. Heart Intelligence as the Real Operating System A central theme of the episode is the movement from mind-centered living into heart intelligence. David says the Arcturians and his own teams continually emphasize heart-centeredness because the heart perceives what the mind cannot. As a former physicist and mathematician, he says he once lived primarily in the head, but had to unlearn rigid mental structures in order to open into the heart. James expands on this by discussing heart-centered science, the heart as a vortex, the soul's connection near the heart, and the idea that the mind is only a tool, while the heart holds multidimensional knowledge and the true connection to Source. Source Energy, Longevity, and the Power of Joy James and David also discuss the importance of fun, joy, and Source connection. James says people forget to have fun and that a life without joy is not sustainable for the body or spirit. David agrees, saying his teams have told him not to continue spiritual or energetic work when he is no longer enjoying it, because pushing from the head reduces the energy. They describe Source intelligence as a living waterfall of vitality that can nourish the body, cells, and reality itself when the heart is open. David says advanced beings are able to maintain or change their bodies through this deep Source connection. Ancient Gods, Human Genetics, and the Fear of Humanity's Potential James then moves into his research on ancient tablets, creation stories, the Anunnaki, Enlil, Enki, ancient gods, and the recurring global stories of beings descending from the heavens to teach humanity. He says many cultures tell similar stories of gods or advanced beings bringing knowledge such as agriculture, astronomy, and civilization, followed by collapse, flood, destruction, or forgetting. James argues that some ancient beings feared humanity because humans had open hearts, powerful genetics, and the ability to receive Source energy directly. He frames human DNA as evolving, communicating with the stars, and carrying the genetics of advanced civilizations. The Return of the Feminine and Masculine in Sacred Balance David adds that his teams have shown him a new merging of feminine and masculine energetics. He says this is not simply about men and women getting along, but about a deeper internal and planetary shift. The old division between masculine and feminine is being replaced by a layered, seamless, non-divisive integration where a powerful feminine core and masculine expression work together harmoniously. James connects this to ancient traditions in which male and female divine counterparts were once recognized together, before patriarchal systems diminished the feminine and distorted the original balance. Why Parasitic Systems Cannot Survive Source Intelligence The conversation becomes more pointed as James and David discuss parasitic consciousness, negative extraterrestrial influences, power-seeking behavior, and the breakdown of hierarchical systems. David says beings or systems that lose their Source connection can no longer generate life energy from within, so they begin taking from others through domination, harvesting, manipulation, or control. James relates this to what he sees in the UFO community, where competition, jealousy, backstabbing, and information-stealing replace cooperation and shared awakening. Both argue that true contact with advanced beings begins with personal alignment, integrity, heart-centeredness, and one's own direct Source connection. Contact, Projection, and the Work That Must Be Done First James notes that people who have not done their inner work may project unresolved wounds and trauma onto high-frequency beings, labeling them evil or dangerous because their own material is being triggered. David agrees, explaining that even during biolocation experiences with ships or advanced beings, his teams sometimes tell him to return because the energies are too high and could bring up more than he is ready to process. Both present contact as something that requires maturity, humility, clearing, and alignment with the higher self, rather than ego, competition, or sensationalism. Ancient Collapse, Modern Cities, and the Need for Moral Foundation James draws comparisons between ancient stories of civilizations that devolved and modern cities he sees as losing moral and energetic coherence. He says societies on a downward spiral become predatory, take from others, and lose integrity, and he suggests that nature or higher intelligence eventually steps in to correct severe imbalance. David responds that parasitic energetic structures can behave like organisms trying to survive, but Source intelligence dissolves them when people return to the heart. The two frame current upheavals not as punishment, but as a clearing of infected or distorted patterns that cannot continue into the next stage. The Fire Hose of Light and the Path Beyond Drama Near the end, James and David describe the incoming wave as a kind of fire hose of light, bringing in enough force to dissolve outdated systems, expose division, and accelerate transformation. James references Yeshua as an exemplar of the path into unconditional love, forgiveness, and union with the Most High or Source. David says the goal is to strip away falsity so truth can emit as it is meant to. James closes by saying humanity is in a crash course in omnipresence, where divisions are falling away and people are being pushed back into the heart, into Source, and into who they truly are. Closing with an Open Mind and a Loving Heart The episode closes with James thanking David and suggesting that a third conversation will be needed because the topic is still not exhausted. James expresses interest in creating a new kind of conference that brings together heart-centered speakers from different angles, including the divine feminine, physics, contact, and spiritual awakening. He ends by reminding listeners to keep an open mind, a loving heart, and pure intent, and not to get caught in drama. The final message is that the old systems will run their course, but the heart-centered path is where people should remain anchored.

After losing their son Noahto to mitochondrial disease, Kristelle and Evan Shulman are determined that his death will not be in vain, holding fast to their dream of having healthy, biologically-related children. This search leads them abroad in pursuit of an emerging reproductive technology, one filled with scientific promise, but also ethical questions, financial strain, and profound uncertainty. This episode explores how families and physicians make decisions when novel approaches can reduce risk, but never eliminate it. (Part 2 of 2.)This episode features:Kristelle and Evan Shulman: Parents navigating mitochondrial disease and reproductive decisionmaking.Marni Falk, MD: Attending physician and Executive Director of the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia and Professor in the Division of Human Genetics, Department of Pediatrics at the University of Pennsylvania Perelman School of Medicine.Jeffrey Kahn, PhD, MPH: Andreas C. Dracopoulos Director of the Johns Hopkins Berman Institute of Bioethics.“playing god?” is a podcast by the iDeas Lab at the Johns Hopkins Berman Institute of Bioethics. To read a transcript of this episode, visit the iDeas Lab website at https://bioethics.jhu.edu/pgs2e4.The Johns Hopkins University Sesquicentennial is proud to support this podcast. JHU celebrates 150 years of pioneering education and research—advancing knowledge to meet the challenges of every generation. Learn more at 150.jhu.edu.

Um estudo inédito acaba de colocar o Brasil no centro da medicina genômica mundial. Publicada na revista científica Human Genetics and Genomics Advances, a pesquisa realizou o maior sequenciamento de genoma completo já feito na América Latina, analisando o DNA de 10.305 brasileiros com doenças raras e sem diagnóstico definido. O resultado trouxe respostas para 35,6% dos pacientes investigados, mais de 3.300 famílias que passaram anos, e em alguns casos décadas, em busca da origem da doença. O estudo reforça um ponto considerado estratégico para o futuro da saúde pública brasileira: a medicina genômica funciona no SUS e pode transformar a forma como doenças raras são diagnosticadas e tratadas. Sobre o assunto, o âncora Jota Batista conversa com o médico e pesquisador, João Bosco, no Canal Saúde desta sexta-feira (5), às 12h30, que pode ser acompanhado pelo dial da Rádio Folha FM 96,7 ou pelo canal do YouTube e Facebook da Folha de Pernambuco.

When Kristelle and Evan Shulman lose their young son Noah to a rare mitochondrial disease, they are told they may never be able to have a healthy biologically related child. Then they discover mitochondrial replacement technology, or MRT, a controversial procedure that could prevent the disease from being passed on to future generations. This episode explores how families, clinicians, and policymakers grapple with the ethics of novel reproductive technologies that offer extraordinary hope amid profound uncertainty. (Part 1 of 2.)This episode features:Kristelle and Evan Shulman: Parents navigating mitochondrial disease and reproductive decision-making.Marni Falk, MD: Attending physician and Executive Director of the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia and Professor in the Division of Human Genetics, Department of Pediatrics at the University of Pennsylvania Perelman School of Medicine.Jeffrey Kahn, PhD, MPH: Andreas C. Dracopoulos Director of the Johns Hopkins Berman Institute of Bioethics.“playing god?” is a podcast by the iDeas Lab at the Johns Hopkins Berman Institute of Bioethics. To read a transcript of this episode, visit the iDeas Lab website at https://bioethics.jhu.edu/pgs2e3.The Johns Hopkins University Sesquicentennial is proud to support this podcast. JHU celebrates 150 years of pioneering education and research—advancing knowledge to meet the challenges of every generation. Learn more at 150.jhu.edu.

What if the key to understanding autism isn't one gene — but thousands working together?In this episode of Research Renaissance, host Deborah Westphal sits down with Dr. Daniel Gershwind, Gordon and Virginia McDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA, and Associate Vice Chancellor for Precision Health. A true pioneer in neurogenomics, Dr. Gershwind has spent over two decades reshaping how we understand autism and complex brain disorders — from building one of the first autism gene banks to applying transcriptomic network methods that revealed the molecular landscape of the brain in entirely new ways.This conversation is as much about the science as it is about how science gets done — through collaboration, curiosity, and a willingness to tackle the problems others walk away from.Key TakeawaysGenetics doesn't mean "everything is genetic" — all human disease has both genetic and environmental components, but genetics offers a powerful, tractable starting point for understanding causeLooking at gene networks (rather than single genes) transformed the field by making sense of hundreds or thousands of genes at once — and revealing how biological systems adapt and respond to disruptionAutism affects approximately 1 in 100 children today — not because rates have risen, but because our ability to diagnose it has dramatically improved over the past 30 yearsAbout 15% of people with autism can now be identified with a specific causative genetic mutation through whole genome or exome sequencing — pointing toward targeted, precision therapiesTranscriptomics (measuring RNA expression across the brain) revealed shared molecular patterns in autism brains across different patients — a surprising convergence that has since been validated in large sample sizesAutism, schizophrenia, and bipolar disorder share some molecular pathology but are mostly molecularly distinct — a finding only visible at the transcriptomic levelCRISPR activation (without genome editing) has already been used in lab models to restore normal neuronal firing in certain autism-linked epilepsy syndromes — a proof of concept for future therapiesAI is now being used to connect gene networks to existing drugs, potentially accelerating drug discovery without needing full mechanistic understandingNeurodegeneration (including Alzheimer's and frontotemporal dementia) is closer to clinical trials than autism — but the two fields are informing each other in real timeAbout the GuestDr. Daniel Gershwind is the Gordon and Virginia McDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA. He leads the Gershwind Lab and serves as Associate Vice Chancellor for Precision Health. He co-founded the Autism Genetic Resource Exchange (AGRE), which became the leading data resource for autism genetics research for over a decade, and has been instrumental in developing transcriptomic network approaches now used widely across the field.Resources & LinksKaren Toffler Charitable Trust: karentoffler.orgAutism Genetic Resource Exchange (AGRE)UCLA Gershwind LabPsychENCODE ConsortiumEnjoyed this episode? Subscribe to Research Renaissance wherever you listen to podcasts, leave us a review on Apple Podcasts, and share this episode with anyone who cares about the future of brain health research. Every share helps bring this science to more people.To learn more about the breakthroughs discussed in this episode and to support ongoing research, visit our website at tofflertrust.org. Technical Podcast Support by Jon Keur at Wayfare Recording Co.

Five longevity beliefs that millions have followed for decades have just been overturned by the latest research. Some of these will surprise you.In this explainer, Robert Lufkin MD walks through five of the most widely believed longevity myths — and what the most recent science actually says about each one. From genetics and middle age to antioxidants, alcohol, and caloric restriction, the evidence has shifted dramatically.CHAPTERS:00:00 — Introduction00:32 — Myth 1: Your Genes Determine How Long You Live01:51 — Myth 2: It's Too Late to Change After Middle Age03:24 — Myth 3: Antioxidant Supplements Prevent Disease05:22 — Myth 4: Moderate Alcohol Is Good for You07:04 — Myth 5: Caloric Restriction Is King08:50 — The Real Framework: Quality Beats Quantity09:18 — Final TakeawayKEY TAKEAWAYS:• Genetics accounts for at most 25–50% of how long you live• Quitting smoking before 40 eliminates ~90% of excess mortality risk• Antioxidant supplements have no benefit and may increase mortality• The protective J-curve for moderate alcohol disappears once you correct for the "sick quitter" effect• Caloric restriction's primate magic was rescuing animals from a high-sugar control diet• Diet quality matters more than diet quantitySTUDIES & SOURCES MENTIONED:• Herskind et al., Human Genetics 1996 — 2,872 Danish twin pairs heritability of longevity• Jha et al., NEJM 2013 — 21st-century smoking cessation and life expectancy• Saint-Maurice et al., JAMA Network Open 2019 — Adult life-course physical activity and mortality• Bjelakovic et al., Cochrane 2012 — Antioxidant supplements for prevention of mortality• Zhao et al., JAMA Network Open 2023 — Daily alcohol intake and all-cause mortality meta-analysis• Mattison et al., Nature Communications 2017 — Caloric restriction in rhesus monkeys (NIA / Wisconsin reconciliation)⭐ Enjoying the show? Please leave a 5-star review on Apple Podcasts — it takes 30 seconds and helps more people discover the science of health and longevity. Thank you!New episodes every Tuesday & Thursday. Subscribe so you don't miss one.Continue this conversation on Substack: https://robertlufkinmd.substack.comLies I Taught In Medical School — Free sample chapter: https://www.robertlufkinmd.com/lies/Web: https://www.robertlufkinmd.comYouTube: https://www.youtube.com/robertlufkinmdX: https://x.com/robertlufkinmdInstagram: https://www.instagram.com/robertlufkinmd/TikTok: https://www.tiktok.com/@robertlufkinLinkedIn: https://www.linkedin.com/in/robertlufkinmd/

Founder, Harvard-trained andawarded fertility specialist Gabriela Rosa, she is the Creator of the F.E.R.T.I.L.E. Method an evidence-based framework shown in clinical research to help couples overcome infertility, miscarriage, and failed treatments. She holds a Master's in Reproductive Medicine and Human Genetics from the University of Sydney and a Master's in Public Health (Clinical Effectiveness) from Harvard, where she was awarded for academic excellence. In part two we dive into the big drivers of infertility and what can decrease your fertility and chances.      Only buy what you need, use Think Fitness Life's trusted affiliates when the service/supplement is right for you.  For Physical Assistance Think Fitness Life Coaching is backed by 25 years of Experience guiding people to fitness freedom. Learn more Mention "Kickstart discount" for 10% off your first month.   For Therapy Services we partnered with BetterHelp: A telehealth therapy service connecting people with licensed mental health therapists. Learn more By using the referral link you receive 10% off your first month. Disclaimer: We're here to share ideas and inspiration, not medical advice. Please check with your doctor before making any changes to your health or fitness routine. Science-Driven. Doctor Formulated. – recomnd Code TFL20 

Founder, Harvard-trained andawarded fertility specialist Gabriela Rosa, she is the Creator of the F.E.R.T.I.L.E. Method an evidence-based framework shown in clinical research to help couples overcome infertility, miscarriage, and failed treatments. She holds a Master's in Reproductive Medicine and Human Genetics from the University of Sydney and a Master's in Public Health (Clinical Effectiveness) from Harvard, where she was awarded for academic excellence. In part one we dive into the background of infertility and what defines it and how you can start to reverse it or enhance your fertility.      Only buy what you need, use Think Fitness Life's trusted affiliates when the service/supplement is right for you.  For Physical Assistance Think Fitness Life Coaching is backed by 25 years of Experience guiding people to fitness freedom. Learn more Mention "Kickstart discount" for 10% off your first month.   For Therapy Services we partnered with BetterHelp: A telehealth therapy service connecting people with licensed mental health therapists. Learn more By using the referral link you receive 10% off your first month. Disclaimer: We're here to share ideas and inspiration, not medical advice. Please check with your doctor before making any changes to your health or fitness routine. Science-Driven. Doctor Formulated. – recomnd Code TFL20 

Dr. Alex Young, a statistical geneticist and assistant professor in the Human Genetics department at UCLA, joins Steve Hsu to discuss the cutting edge of genomic prediction. They cover his research on polygenic embryo screening in IVF (including the ImputePGTA method), family-based DNA analysis, missing heritability, and the implications of polygenic scores for traits like education and disease. Alex also discusses his recent battles with cancer.https://x.com/AlexTISYoungChapter Markers:(00:00) - Alex Young Bio (06:36) - Biobank Era Genetics (10:49) - Missing Heritability Debate (27:18) - Embryo Selection Controversy (50:32) - Embryo Selection Backlash (53:42) - Mexico City Admixture Study (01:00:13) - Censorship Via Data Access Control (01:05:02) - Battle With Cancer and Circulating Tumor DNA (ctDNA) –Steve Hsu is Professor of Theoretical Physics and of Computational Mathematics, Science, and Engineering at Michigan State University. Previously, he was Senior Vice President for Research and Innovation at MSU and Director of the Institute of Theoretical Science at the University of Oregon. Hsu is a startup founder (SuperFocus.ai, SafeWeb, Genomic Prediction, Othram) and advisor to venture capital and other investment firms. He was educated at Caltech and Berkeley, was a Harvard Junior Fellow, and has held faculty positions at Yale, the University of Oregon, and MSU. Please send any questions or suggestions to manifold1podcast@gmail.com or Steve on X @hsu_steve.

Le sens de l'humour fait partie de ces traits que l'on aime attribuer à la personnalité, à l'éducation, ou à l'ambiance familiale. Mais une question intrigue depuis longtemps les chercheurs : sommes-nous génétiquement programmés pour avoir de l'humour… ou est-ce uniquement le produit de notre environnement ? Une étude publiée dans la revue scientifique Twin Research and Human Genetics apporte des éléments de réponse particulièrement éclairants.Pour étudier l'origine de traits psychologiques complexes, les scientifiques utilisent souvent une méthode classique : la comparaison entre jumeaux monozygotes, qui partagent 100 % de leur patrimoine génétique, et jumeaux dizygotes, qui n'en partagent qu'environ 50 %, comme de simples frères et sœurs. Si un trait est plus similaire chez les jumeaux identiques que chez les faux jumeaux, cela suggère une influence génétique.Dans cette étude, les chercheurs ont analysé plusieurs dimensions de l'humour : la capacité à produire des blagues, la sensibilité à l'humour des autres, et l'usage de l'humour dans les interactions sociales. Les participants devaient répondre à des questionnaires standardisés évaluant leur style humoristique et leur fréquence d'utilisation de l'humour au quotidien.Résultat principal : le sens de l'humour est partiellement héréditaire. Selon les analyses statistiques, environ 30 à 40 % des différences individuelles liées à l'humour peuvent être expliquées par des facteurs génétiques. Cela signifie que les gènes jouent un rôle réel, mais non dominant. Autrement dit, l'humour n'est ni totalement inné, ni purement acquis.Ce point est essentiel. La majorité de la variabilité observée — 60 à 70 % — est liée à l'environnement : la famille, la culture, l'éducation, les expériences de vie, mais aussi le contexte social. Grandir dans un milieu où l'humour est valorisé, pratiqué et encouragé compte donc davantage que l'ADN seul.Les chercheurs soulignent également que toutes les formes d'humour ne sont pas égales face à la génétique. Par exemple, l'humour affiliatif — celui qui sert à créer du lien social — semble plus influencé par l'environnement, tandis que certains traits cognitifs liés à la compréhension des jeux de mots ou de l'ironie pourraient avoir une composante génétique plus marquée, via des capacités comme la flexibilité mentale ou le langage.Enfin, cette étude rappelle un point fondamental en sciences du comportement : les gènes ne déterminent pas des comportements précis, mais des prédispositions. Avoir une base génétique favorable ne garantit pas d'être drôle, pas plus qu'en être dépourvu n'empêche de développer un excellent sens de l'humour.En conclusion, le sens de l'humour est bien en partie héréditaire, mais il se façonne surtout au fil des interactions, des cultures et des expériences. Une bonne nouvelle : même sans “gène de l'humour”, il reste largement… cultivable. Hébergé par Acast. Visitez acast.com/privacy pour plus d'informations.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss ongoing gene therapies in lysosomal disorders.Nicola Longo MD, PhDI'm going to present to discuss some example of ongoing gene therapy for lysosomal disorder. There are gene therapy in development for both Fabry disease and some of this involve ex vivo gene therapy, many others involve systemic administration with an AAV, Gaucher disease type 1 that affect the periphery, and Gaucher disease type 2, where the replacement should occur within the central nervous system because this condition affects the brain. There is already one approved gene therapy for lysosomal disorder, which is for the early onset metachromatic leukodystrophy. This has been approved both in Europe and now even in the United States, which consists of ex vivo gene therapy with the administration of an extra gene that restore the function of the defective enzyme. Now there are many others that are ongoing for the same indication. There are gene therapy programs for GM1 and GM2 gangliosidosis, and at least one for Krabbe disease. It is important to know that some of these condition are actually included in the recommended uniform screening panel. Basically, we would have access to patients in a timely manner for some of these conditions. Then there are several gene therapy under development for the mucopolysaccharidoses, including MPS-IH, MPS-II, MPS-IIIA and MPS-IV.There are different type of lysosomal disorders, the one caused by mutation, integral membrane protein, not enzyme within the lysosome, but protein that are present on the membrane of the lysosome. This gene therapy that have been tested, it is for cystinosis, that it is caused by a defective lysosomal and for Danon disease, which is caused by a deficiency of an integral membrane part. Finally, one lysosomal disorder, which obviously seems a metabolic condition, but it is really not, is glycogen storage disease type 2 or Pompe disease, in which there is the intralysosomal accumulation of glycogen. There are several ongoing clinical trials to try to correct the problem in this condition.Now, I'm going to discuss some of the most advanced program in the lysosomal storage disorder. This include one for Fabry, which is on an accelerated approval pathway with phase 1 and 2 data, one for Gaucher disease type 1. Obviously, I'm going to discuss the one that has been already approved for metachromatic leukodystrophy. There is one for Hunter syndrome, and the difference of the one for Hunter syndrome, it is an example of the direct administration of gene therapy within the central nervous system.Finally, there is one ongoing for glycogen storage disease type 2 or Pompe disease in adult patients. In gene therapy for metachromatic leukodystrophy, it was the first gene therapy approved for lysosomal disorder in human, and this requires harvesting the CD34 cell from affected patient and then introducing the [inaudible 00:04:32] gene back in this cell, and then placing them back inside the patient again. This has been very effective in patients who were treated early, and obviously, the treatment needs to occur before there is irreversible brain damage in this patient.In the next part, Dr. Roberts and Longo will discuss treatment with gene therapies.

Nicola Longo MD, PhD, and Mark Roberts, MD Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfesor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice.The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss vectors, different strategies, modes of administration and targets in gene replacement therapies.Mark Roberts, MDNow in the broader sense, gene replacement therapy seeks to actually deliver genetic material directly into the host cell to influence gene expression. In the most simple idea, one of course has a vector, this is most commonly but not exclusively a virus, which can then be given intravenously for example, and can hope to potentially correct the condition within the individual cells using novel transgenes. Suitable candidate conditions for this as examples of genetic conditions are now well understood. And crucially, this applies not only towards some more recessive, but dominant and even accident conditions.Across the piece, one can see for example, mitochondrial problems, spinal muscular atrophy as is well known, X-linked myotubular myopathy, Duchenne muscular dystrophy, a very common condition affecting one in 3000 male individuals, Pompe disease of course, an important focus of the meeting here, but other very common conditions, for example, cystic fibrosis, immunological conditions and perhaps obviously very crucial in early work on gene therapy, hemophilia.Let's now think about the approaches to gene therapy. One can seek to work at the DNA level and gene replacement. In essence, one is trying to put a new transgene through into the nucleus that will ultimately be transcribed and translated and produce the important functional protein that is lost. Gene editing which is a very exciting new technology or CRISPR technology actually seeks to actually modify in vivo the actual mutations that are responsible for the pathogenic production of abnormal proteins and correcting these and actually producing a more normalized protein.But of course there are also RNA approaches where one seeks to actually repair the mRNA transcripts copied from the mutated gene. For example, this may be a novel approach that could be extremely useful in myotonic dystrophy, a multisystem condition. When we talk about the viral vectors, predominantly we're talking about viruses. Those such as adenoviruses and AAV viruses which have the virtue of not integrating into the host genome or at least not in a large amount, and those which deliberately seek to integrate into host genome such as retroviral or lentiviral systems that may be particularly useful for ex vivo systems.There are of course other ways to get genetic payloads into the nucleus, various polymers, nanoparticles and even cell penetrating peptides. Nanoparticles in particular is certainly on the ascendant. That being said, in a recent review of the clinical trials in gene therapy, it was certainly the viral vectors that stood out both in direct gene replacement with lentivirus and AAV, but also actually as delivery systems, for example, for gene editing. An example of what one is seeking to do with AAV, so of course one seeking to remove the native DNA, insert the new transgene directly into the vector and of course keen to make sure that there's a high transmission into the capsid producing a recombinant AAV, which then can be given as a treatment and hopefully produce a therapeutic increase in the functional protein that is deficit in the disorder.In the next part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.

Nicola Longo MD, PhD, and Mark Roberts, MDNicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfesor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this 8-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Roberts will discuss immune responses and other safety concerns related to gene therapies.Mark Roberts, MDUndoubtedly, the immune system is a major issue in these patients. It would be fantastic if we could immunotolerize our patients and indeed prevent the rejection of the therapy. We've talked about the fact that these are viral vectors and of course there may be high seroprevalence of antibodies to these viral vectors, and it's very important in the pre-screening of patients who might be eligible to understand that at the beginning. These of course can have developed over the years and of course can be part of immunological memory and therefore extremely difficult and probably impractical to actually shift.On giving the treatment though as I think we're all aware there is this problem of the innate immunity and potential therefore for acute toxicities and then a learned or adaptive response with cytotoxic T cells and antibodies which may of course become high tighter neutralizing antibodies and potentially antibodies not only against the viral vector, even the functional protein, even the transgene are all theoretical possibilities with time. The capsid, the transgene, and even the protein product can all potentially induce an immunological event. Of course, all of these would lead to both potential patient changes and then a lack of efficacy of the treatment.Indeed, there have been some serious and indeed fatal problems in the gene therapy development program as I think we're all aware. Though many of these are thankfully been overcome. Spinal muscular atrophy has a gene therapy which is licensed, but there were early patients who actually had significant problems. A patient of just 6 months of age who developed kidney failure, two other patients who actually developed liver failure.In Duchenne muscular dystrophy, a very common condition, again there were significant issues and crucially in these patients who all have cardiomyopathy, it was heart failure and cardiac arrest that were big concerns and pulmonary edema and this was seen even with a CRISPR-based technology and is perhaps is best known but has been addressed the excellent myotubular myopathy patients, four patients died and crucially quite a long time after the gene therapy emphasizing the need to monitor these patients extremely carefully and these patients died of cholestatic liver failure albeit that they had a degree of liver dysfunction.That's changed our screening of course of patients, we're now all looking in myotubular patients for liver involvement and Rett syndrome as well. Now these immunoprophylaxis treatment regimes to hopefully try and reduce the immunological reaction against the gene are certainly evolving.This is just a summary of some of the other immunosuppressive regimes used in other disorders, for example, spinal muscular atrophy, but Pompe and MPS as examples of LSDs. Certainly these regimes will continue to evolve and are going to be very important in seeking to make sure that these treatments are effective. It reminds me somewhat of what's happened with enzyme replacement therapy that the use of these immunological strategies in infants has revolutionized the utility of those treatments in early patients.In the next part, Dr. Roberts will discuss lessons learned from gene therapy trials.

Nicola Longo MD, PhD, and Mark Roberts, MDNicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs.Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025 and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.In this part, Dr. Roberts will discuss lessons learned from gene therapy trials.Mark Roberts, MDWhen we think about the challenges of actually doing clinical trials with these gene therapies, there's a huge development stage in terms of picking the right viral vector with the right surface receptor. That's a major piece of work. That can often take years. The preclinical work is obviously very important as indeed is understanding the natural history because it's really not practical to do placebo-controlled trials of gene therapies.In contrast to other studies, when we turn to phase 1 and phase 2, you'll notice that the patient numbers are often quite small. One is having to think carefully about surrogate measurements of response. Especially when in phase 3 studies, we may be thinking about withdrawing the existing, for example, enzyme replacement therapy because we believe the gene therapy will then be effective.That's just a few snapshots of where we've come and there's a lot more work to be done.In the next part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight part podcast series. This is derived from the symposium that was presented at World Symposium 2025, in San Diego, California, on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss gene replacement therapy in lysosomal disorders.Nicola Longo MD, PhDLet's go back a second to gene therapy. Gene therapy obviously has the potential of answering many of the questions that we still have open in lysosomal disorder because they could restore the activity of the lysosome pretty much in the whole body, or at least in multiple tissues. As you have seen, gene therapy can be done ex vivo where we take cells from the affected patient, we correct the gene, or we put an extra gene that it is functional. Then we put them back by doing a bone marrow transplant, basically creating space for the cells that have been genetically modified to correct the lysosomal defect. The biggest approach this is done usually by lentiviruses that they integrate inside the genome.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established, and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas.In this part, Dr. Roberts will discuss lysosomal disorders and the potential for gene therapies.Mark Roberts, MDI'm going to give an overview of what is gene therapy, emphasizing the current challenges and the development issues and needs that there will be as we try and enable gene therapy for our patients, particularly those with lysosomal storage disorders.I'm going to try and make a case for why lysosomal storage disorders are an extremely good group of conditions for the potential benefits of gene modifying therapies. Firstly, whilst we all recognize that these conditions are inherently individually rare, they're certainly severe. Collectively, with over 70 LSD disorders, 1 in 5,000 may be afflicted by these conditions ultimately in their life and can be detected, for example, by newborn screening programs.Secondly, there's certainly a significant clinical burden with these patients with the current standard of care, so a large unmet need exists. Existing enzyme replacement therapies have undoubtedly changed the natural history of many of these conditions, but there are limitations and often initial benefits and later deteriorations.Unfortunately, for most lysosomal storage disorders, it's only symptomatic treatments and indeed, care that is available for these patients with no specific treatment. Thirdly, these conditions are extremely well-characterized, monogenic singleton and problems of inborn errors of metabolism. We know the functional protein that is deficient in these conditions. Because of that, and knowing that these are critical for lysosomal function, and using preclinical models, we can model the potential benefits of gene therapies very well in a number of systems, including, of course, soon, muscle chip experiments as well.Finally, with these conditions, they may potentially be really useful targets whilst not perhaps curing the condition, at least ameliorating the phenotype, and enabling the addition of other treatments as well, potentially. I've noted, some of these therapies can be directly delivered to certain tissues, so muscle tissue, which is my main interest, but also, crucially, the central nervous system, which is very important when we consider ameliorated phenotypes, for example, treated by enzyme replacement therapy, but where the children who become the adults have significant learning disability as a major component to their problems.In the next part, Dr. Roberts will discuss vectors, different strategies, modes of administration, and targets in gene replacement therapies.

Happy holidays listeners! With the year coming to an end, Cathy Gildenhorn, Beth Glassman, and our Executive Producer Kira Dineen have been reflecting back on a full three years of “It Happened To Me”. We've produced nearly 75 episodes and learned so much along the way. A good chunk of them have been exploring rare diseases and hearing people's journeys from early symptoms, to diagnosis, to treatment, and beyond. With this in mind, we want to revisit an episode that takes a more macro view on rare diseases.  If you're a long time listener of the show, you may know Kira Dineen is not only produces the show, but is also a practicing genetic counselor, so we thought it would be interesting to bring her in front of the mic in this episode to talk about how genetic counselors can help those in the rare disease community.    Genetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community. Co-producer Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her multi-award winning podcast, "DNA Today", is in the top 1% of podcasts globally. She was accepted into The Podcast Academy and has served as a Blue Ribbon Panelist for The Ambies. Kira received her Diagnostic Genetic Bachelor's of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master's of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Connecticut.  On This Episode We Answer: When should a person or couple consider genetic counseling? Is a referral required to see a genetic counselor? Does insurance cover genetic counseling for this? Is genetic testing done before the visit?  How many visits are we talking about? Do you ever suggest adoption as an option? When? How do you help people with genetic conditions? Why get tested at all? What have you learned from interviews with patients and rare disease advocates? Do you recommend joining rare disease advocacy groups? Why study rare diseases? What is CRISPR? How could this help treat…or even cure…genetic conditions?  You produce a rare disease podcast that focuses on nano rare diseases. What's a nano-rare disease? Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.  It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

This episode brings together the science, the medicine, and the lived experience behind BRCA mutations.  Emily Goldberg, JScreen's Director of Genetic Counseling Services, breaks down what these mutations are, how they're inherited, and what the actual cancer risks look like. Dr. Melissa Frey, a GYN oncologist at Cornell who works closely with high-risk families, walks us through what happens after someone tests positive — from screening to risk-reducing surgeries to the big conversations around fertility and timing. We also hear from Heather Boussi, who shares her powerful story of living with both BRCA1 and BRCA2 mutations. She talks about diagnosis, surveillance, surgeries, and how this all shaped her family-building decisions. Lastly, we look at what BRCA means for men, how that journey differs, and why PGT can still be an option. If you or someone you love is navigating this, we close with places to turn for support: JScreen, Sharsheret, I Was Supposed To Have A Baby, and Stardust (links below). It's a mix of expertise, honesty, and heart — the kind of conversation so many people wish they had heard earlier, especially when faced with such difficult decisions.  Note: This episode is the 4th of a series of 5 that we are collaborating on with Jscreen in 2025.  Take a look at our previous three episodes here : Episode 157: Introduction to Genetics and Infertility Episode 166: Fragile X Syndrome: A Silent Factor in Infertility Episode 185: It's Not Just Her: Male Factor Fertility and Genetics Uncovered Resources: Genetics and Personalized Cancer Prevention Program Facing Our Risk Empowered (FORCE) Jewish Fertility Foundation Stardust Foundation Sharsheret JScreen More about Emily Goldberg: Emily Goldberg serves as the Director of Genetic Counseling Services at jscreen, where she is dedicated to helping individuals understand and manage their genetic health. With dual bachelor's degrees in biology and psychology from Brandeis University and a master's degree in Human Genetics from Sarah Lawrence College, Ms. Goldberg has been a certified genetic counselor since 2011. Prior to joining jscreen, she worked at Montefiore Medical Center in the Bronx, specializing in prenatal and cancer genetics. In addition to her role at jscreen, Ms. Goldberg is committed to education, serving as an Instructor at the Albert Einstein College of Medicine and adjunct faculty at Sarah Lawrence College, where she teaches and mentors future genetic counselors. Her expertise and dedication make her a key member of the jscreen team. Connect with JScreen: - visit their website here - check out their Instagram   More about Melissa Frey, MD: Dr. Melissa Frey is an Associate Professor of Obstetrics and Gynecology in the division of Gynecologic Oncology and the Director of the Genetics and Personalized Cancer Prevention Program at Weill Cornell Medicine / NewYork Presbyterian Hospital. Dr. Frey's clinical care and research focus on the management of individuals with hereditary cancer syndromes (e.g. BRCA1, BRCA2, Lynch syndrome) and strong family history of breast and gynecologic cancers. She performs gynecologic cancer risk-reducing surgeries and is the principal investigator on several large trials aimed at cancer prevention among high-risk individuals. Dr. Frey has presented her research at national and international meetings and has more than 130 publications in peer-reviewed scientific journals. Connect with Dr. Melissa Frey: - check out her Instagram - view the Genetics and Personalized Cancer Prevention Program website   More about Heather Boussi :  Heather grew up in Westchester, NY and now lives in Englewood, NJ with her husband and three children. Her personal experience with hereditary cancer risk and genetic testing has made her a passionate advocate for awareness, education, and empowerment in women's health. Grounded in faith and family, Heather shares her story to help others approach life's challenges with strength, perspective, and gratitude. Connect with Heather: - check out Heather's Instagram   Connect with us: -Check out our Website -Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube -Connect with us on LinkedIn

This week on the Unsupervised Learning Podcast, Razib talks to returning guest Alex Young of UCLA and Herasight. Trained originally as a mathematician, Young studied statistics and computational biology at the University of Cambridge before doing a doctorate in genomic medicine and statistics at the Wellcome Trust Centre for Human Genetics, University of Oxford, under Peter Donnelly. He also worked at deCODE Genetics in Reykjavik and at Oxford with Augustine Kong, developing methods in quantitative and population genetics. Razib and Young talk extensively about what we know about heritability and genomics in 2025, four years after their first conversation. In particular, they discuss what larger sample sizes, high-density genotype-arrays and whole-genome sequencing have told us about heritability and the ability to predict traits in individuals from their sequence. They discuss quantitative and behavioral traits like height, intelligence and risk of autism, and the differences between classical statistical genetical methods utilizing twins and modern molecular genomic techniques that attempt to fix specific physical markers as causal factors in characteristics of interest. In addition to his academic work, Young has also been consulting for the polygenic embryo-screening company Herasight, working on cutting-edge methods for genomic prediction in the context of in vitro fertilization. They dig deep into the new method Young and colleagues worked on that helps democratize embryo selection using genomics, ImputePGTA.

Episode 4: The future of human genetics and precision medicine Relebogile Mabotja speaks to Associate Professor Zané Lombard the Head of Division for Human Genetics about the future of human genetics and precision medicine. 702 Afternoons with Relebogile Mabotja is broadcast live on Johannesburg based talk radio station 702 every weekday afternoon. Relebogile brings a lighter touch to some of the issues of the day as well as a mix of lifestyle topics and a peak into the worlds of entertainment and leisure. Thank you for listening to a 702 Afternoons with Relebogile Mabotja podcast. Listen live on Primedia+ weekdays from 13:00 to 15:00 (SA Time) to Afternoons with Relebogile Mabotja broadcast on 702 https://buff.ly/gk3y0Kj For more from the show go to https://buff.ly/2qKsEfu or find all the catch-up podcasts here https://buff.ly/DTykncj Subscribe to the 702 Daily and Weekly Newsletters https://buff.ly/v5mfetc Follow us on social media: 702 on Facebook https://www.facebook.com/TalkRadio702 702 on TikTok: https://www.tiktok.com/@talkradio702 702 on Instagram: https://www.instagram.com/talkradio702/ 702 on X: https://x.com/Radio702 702 on YouTube: https://www.youtube.com/@radio702 See omnystudio.com/listener for privacy information.

When pain drags you down and sadness lingers—do you ever wonder which came first? Are you feeling depressed because of your migraines, or are migraines making you feel depressed?In this episode of The Migraine Heroes Podcast, we explore one of the most misunderstood and deeply intertwined relationships in chronic illness: the link between depression and migraine. Hosted by Diane Ducarme, who has helped hundreds of migraine heroes reconnect with their bodies and emotions, this episode blends Western neuroscience with Eastern medicine to reveal how pain and mood are not separate—but mirror each other at the deepest level.You'll discover:✨ Why depression and migraines are genetically connected — and how shared biology wires this emotional-pain loop✨ The three biological pathways that link the two — serotonin, inflammation, and stress response✨ What Eastern medicine teaches about transforming inherited tendencies (Jing, Prakruti) through lifestyle and rhythm✨ Simple daily steps to break the cycle — by calming your nervous system and nourishing both brain and moodIf you've ever felt like your migraines are stealing your light — and your sadness is making your pain worse — this episode will help you understand that they come from the same root.You are not broken; your brain is just asking for balance.And once you begin to address one, the other starts to heal too.References:Shared Genetic Roots of Migraine and Depression: A 2016 study in Twin Research and Human Genetics revealed that migraine and depression share overlapping genetic factors, suggesting that emotional pain and physical pain stem from the same biological foundation. Read the full study here.Inflammation and Mood Disorders: A 2019 article in Frontiers in Immunology showed that chronic inflammation can disrupt serotonin signaling, fueling both migraine attacks and depressive symptoms through shared immune pathways. Learn more here.Serotonin Dysfunction in Migraine and Depression: A 2022 study in Brain Sciences explained how low serotonin levels and receptor sensitivity connect emotional regulation and headache frequency, offering insight into the shared neurochemistry of pain and mood. Explore the research here.The Stress Response Connection: A 2010 paper in Current Pain and Headache Reports found that dysregulated stress hormones—particularly cortisol—can trigger both migraine attacks and depressive episodes, underscoring the need to calm the nervous system. Read more here.

Prof Nancy Segal discusses the power of nature and nurture, ethical issues behind the separation of twins and what twins tell us about human behaviour.

Science and History: Human Genetics, Eugenics and the NAZI SPECTRE: Forbidden

Send us a textToday's interview is one that I truly enjoy because it focuses on the patient's experience.  Meet Dan Drydock Shockley, a Navy veteran who served in Operation Desert Storm, Operation Enduring Freedom, and Operation Iraqi Freedom. At the age of 51, after a routine colonoscopy, Dan was diagnosed with Attenuated Familial Adenomatous Polyposis—quite a mouthful, indeed.  I will let Dan share the rest of his incredible story, as he is a gifted speaker. He serves as a live case presentation speaker for the Stanford School of Medicine's Molecular Foundations of Medicine course and the Stanford MS Program in Human Genetics and Genetic Counseling. Dan's story has undoubtedly impacted many individuals.  Patient experiences are crucial for healthcare professionals; they are at the heart of why we do what we do. You will hear about the many connections that Dan forged throughout his journey. As I have told him, there are no coincidences in life, only divine interventions, which you will witness today. Dan is also a master of acronyms and created one based on his experience: Always Forge Ahead with a Purpose. Brilliant. In the five-minute snippet: Army, Navy, Air Force or Marines? For Dan's bio, visit my website (link below).California FAP Awareness WeekContact The Conversing Nurse podcastInstagram: https://www.instagram.com/theconversingnursepodcast/Website: https://theconversingnursepodcast.comYour review is so important to this Indie podcaster! You can leave one here! https://theconversingnursepodcast.com/leave-me-a-reviewWould you like to be a guest on my podcast? Pitch me! https://theconversingnursepodcast.com/intake-formCheck out my guests' book recommendations! https://bookshop.org/shop/theconversingnursepodcast I've partnered with RNegade.pro! You can earn CE's just by listening to my podcast episodes! Check out my CE library here: https://rnegade.thinkific.com/collections/conversing-nurse-podcast Thanks for listening!

The first complete draft of the human genome was published back in 2003. Since then, researchers have worked both to improve the accuracy of human genetic data, and to expand its diversity, looking at the genetics of people from many different backgrounds. Three genetics experts join Host Ira Flatow to talk about a recent close examination of the genomes of 65 individuals from around the world, and how it may help researchers get a better understanding of genomic functioning and diversity.Guests:Dr. Christine Beck is an associate professor of genetics and genome sciences in the University of Connecticut Health Center and the Jackson Laboratory.Dr. Glennis Logsdon is an assistant professor of genetics and a core member of the Epigenetics Institute at the University of Pennsylvania.Dr. Adam Philippy is a Senior Investigator in the Center for Genomics and Data Science Research at the National Human Genome Research Institute at the NIH.Transcripts for each episode are available within 1-3 days at sciencefriday.com. Subscribe to this podcast. Plus, to stay updated on all things science, sign up for Science Friday's newsletters.

Scientific Sense ® by Gill Eapen: Prof. Sriram Sankararaman is Professor of Computer Science, Human Genetics, and Computational Medicine at UCLA. He is broadly interested in problems at the intersection of computer science, statistics, and biomedicine. Please subscribe to this channel:https://www.youtube.com/c/ScientificSense?sub_confirmation=1

Are you a woman leader or entrepreneur considering a career pivot, especially from academia to the dynamic startup world? Do you wonder how to navigate this transition, build crucial relationships, and drive innovation in a new industry? This episode of How Women Inspire addresses these very challenges, offering invaluable insights into making a successful leap and fostering meaningful connections.This week's episode 177 of How Women Inspire Podcast is about transitioning from academia to startups! In this episode of How Women Inspire Podcast, Grace Wei is sharing the importance of building relationships and maintaining connections with experts and mentors. and actionable steps you can take right now to build a team culture at your startup. Grace Wei has held the position of COO at Encellin since 2016. Prior to that, Grace worked as a biologist at UCSF from 2005 to 2015. Grace Wei has a Bachelor's Degree in Human Genetics from McGill University and a Ph.D. in Molecular and Cellular Biology from the University of Chicago. Grace also completed programs at Stanford University Graduate School of Business and Y Combinator.Some of the talking points Julie and Grace go over in this episode include:Why building and maintaining strong relationships is paramount for founders and leadersThe unique benefits of different accelerators and how they can provide access to experts, community, and professional coaching for your startup journey.How transitioning from a specialized field like academia to a startup environment requires humility and a willingness to seek adviceThe importance of team culture for startup success, and how that differs from academia.What steps will you take today to cultivate your network and embrace new challenges?Thank you for listening! If you enjoyed this episode, take a screenshot of the episode to post in your stories and tag me!  And don't forget to follow, rate, and review the podcast and tell me your key takeaways!Learn more about How Women Inspire at https://www.howwomenlead.com/podcast CONNECT WITH GRACE WEI:LinkedInEncellinCONNECT WITH JULIE CASTRO ABRAMS:LinkedIn - JulieHow Women LeadHow Women InvestHow Women GiveInstagram - HWLLinkedIn - HWLFacebook - HWL

In today's episode, supported by Thermo Fisher Scientific, we had the pleasure of speaking with Apar Kishor Ganti, MD; and Allison Cushman-Vokoun, MD, PhD, FCAP, about the FDA approval of the Oncomine DX Express Test for use as a companion diagnostic for sunvozertinib (Zegfrovy) in EGFR exon 20 insertion mutation–positive non–small cell lung cancer and for use in tumor profiling. Dr Ganti is a professor in the University of Nebraska Medical Center (UNMC) Division of Oncology & Hematology, the Dr. and Mrs. D. Leon UMNC Research Fund Chair in Internal Medicine, and the associate director for Clinical Research at the Fred & Pamela Buffett Cancer Center in Omaha. Dr Cushman is the Henry F. Krous Professor of Pathology, a professor in the UNMC Department of Pathology, Microbiology and Immunology, director of the Division of Diagnostic Molecular Pathology and Human Genetics, medical director of the Molecular Diagnostics and Personalized Medicine Laboratory at Nebraska Medicine, director of the Molecular Genetic Pathology Fellowship Program, and associate director of the UMNC MD-PhD Scholars Program.  In our exclusive interview, Drs Ganti and Cushman discussed the significance of the launch of the Oncomine DX Express Test, the benefits and limitations of rapid next-generation sequencing, and features that set Oncomine DX apart from other available tests. 

It's Tuesday, June 24th, A.D. 2025. This is The Worldview in 5 Minutes heard on 140 radio stations and at www.TheWorldview.com.  I'm Adam McManus. (Adam@TheWorldview.com) By Kevin Swanson and Adam McManus Syrian suicide bomber A suicide bomber entered an Orthodox Church in Damascus, Syria on Sunday killing 22 people and wounding at least 63 others, reports ABC News. The ISIS terrorist group has claimed responsibility. No increased nuclear radiation levels after U.S. bombing in Iran The International Atomic Energy Agency reports no increase in off-site radiation levels at the three Iranian sites bombed by the United States and Israel. The neighboring Kuwait government has also confirmed that “no abnormal radiation levels have been detected in any of the member states.” The whereabouts of 400 kilograms of highly enriched Uranium in Iran is still a mystery. Israel bombed Iran's Evin Prison Israel continues its bombardment on Iran, including a bombing of the notorious Evin prison, where a number of Christians are held, and have been tortured over the last several decades. Trump: Israel & Iran agreed to cease-fire to end “12-Day War” On Monday, President Donald Trump announced that Israel and Iran had agreed to a cease-fire, declaring an end to what he referred to as “The 12 Day War,” reports The Epoch Times. In a Truth Social Post, Trump wrote,  “It has been fully agreed by and between Israel and Iran that there will be a Complete and Total CEASEFIRE … for 12 hours, at which point the War will be considered ENDED!” Both sides will wind down their final military operations within 12 hours, beginning what Trump expects to be “PEACEFUL and RESPECTFUL” on both sides. The conflict will be declared over within 24 hours. However, The New York Times indicated that there is no confirmation yet from Israel and Iran. Russia bombed Ukraine with 16 missiles and 352 drones The Russian army unleashed a heavy bombardment on Kiev, Ukraine yesterday involving 352 drones and 16 missiles, reports Reuters. At least 10 Ukrainians died in the attack. This follows another attack last week which killed 28 people.  Zelensky assassination plot foiled Ukrainian President Volodymyr Zelensky was the target of an assassination plot to be carried out by a Polish elderly man who had first been recruited by the Soviet Union decades ago, reports Newsweek. The man was activated to take out Zelensky at Poland's Rzeszów–Jasionka Airport using either a first-person view drone or a sniper rifle. The would-be assassin was a firm believer in Soviet ideology. The assassination plot was foiled by a joint effort of Ukraine's SBU, the main internal security agency, and the Polish internal security service known as ABW. Americans less isolationist Americans are moving away from isolationism according to a recent survey by the Ronald Reagan Institute. In the last three years, Americans who believe the United States should be more engaged in international events has seen a 24% increase. Specifically, 69% of Republicans, 64% of Democrats, and 73% of MAGA/Trump Republicans want to see more engagement internationally. A supermajority of Americans – 84% -- state their support for preventing the Islamic Republic from gaining access to nuclear weapons. Only 57% of Americans would agree with the statement that “the United States is better served by withdrawing from international events and focusing on problems here at home.” The major shift in American opinions on this has occurred since the November election.  Russia economy expanded by 4.3% last year Despite international pressures, the Russian economy expanded by 4.3% last year. This compares to a 1.1% bump for the United Kingdom, and a 2.8% bump for the U.S. economy last year. Supreme Court temporarily allows deportations to third countries In a 6-3 decision on Monday, the Supreme Court temporarily lifted a lower court order blocking the Trump administration from deporting illegal immigrants to so-called third countries to which they have no connection, reports The Epoch Times. The unsigned order came in the case known as Department of Homeland Security v. D.V.D. Michigan church shooting prevented   A heavily-armed man attempted a massacre at the Wayne, Michigan Crosspointe Community Church, reports CBS News. Thankfully, he didn't make it into the building. A parishioner rammed him with his truck, and the security team engaged him in the parking lot.  The suspect was pronounced dead when police arrived on the scene. One security guard took a shot in the leg. Based on national news sources, there are 1-2 church shootings per year in this country. That's 1 out of 380,000 churches.  Psalm 27:1-2 is always the right mindset. It says, “The Lord is my light and my salvation; whom shall I fear? The Lord is the strength of my life; Of whom shall I be afraid?  When the wicked came against me to eat up my flesh, my enemies and foes, they stumbled and fell.” Ohio pro-life legislators want to protect babies from conception Several Ohio legislators are floating a bill that outlaws the willful murder of a child from the point of conception. The "Ohio Prenatal Equal Protection Act,” introduced by state Representatives Levi Dean and Johnathan Newman, would overturn the 2023 referendum amendment that legalized abortion in Ohio.  In Psalm 22, the psalmist confesses, “You … took me out of the womb; You made me trust while on my mother's breasts. I was cast upon You from birth. from my mother's womb You have been my God.”  Older Americans more likely to have Biblical worldview George Barna's 2025 American Worldview Inventory report has been released and he concludes that only 1% of adults under 30 have a Biblical worldview. That compares with 5% for adults over 50, and 8% for adults over 65. Also, 69% of young Gen Z Americans believe abortion is morally acceptable. That's up from 60% for the Gen X and Boomer generations. Then, 73% of Gen Zers agree that sex outside of marriage is okay.  That's up from 59% with the Boomer Generation.  Fifth Circuit deems Louisiana Ten Commandments law unconstitutional The 5th U.S. Circuit Court of Appeals overturned Louisiana's law requiring the posting of The Ten Commandments in public schools, reports Courthouse News Service. The Louisiana law required schools which receive public funding to post a framed copy of The 10 Commandments in the classrooms. Observatory identified and photographed 10 million galaxies The Rubin Observatory, located in South America's Andes Mountain, has completed its first 10 hours of operation and identified 2,104 new asteroids never seen before, and photographed 10 million galaxies, reports the BBC. The observatory features a 28-foot telescope and an ultra-wide, ultra-high definition camera.  Sperm donor passed cancer gene to 67 children In other science news, a sperm donor in Europe has passed a cancer gene on to 67 children. Already, at least ten of the children have signs of cancer, all of them born between 2008 and 2015. The case was discussed at the annual conference of the European Society of Human Genetics. Dr. Edwige Kasper, a specialist in genetic predisposition to cancer at the Rouen University Hospital in Rouen, France, said, “The variant would have been practically undetectable in 2008 when the individual started to donate sperm.” U.S. housing prices spike Housing prices in the U.S. are still reaching record highs. The median price of homes sold last month was $423,000, up 1.3% from May of 2024. 7 Worldview listeners gave $2,828.30  to fund our annual budget And finally, toward our final $123,500 goal by Monday, June 30th to fully fund The Worldview annual budget for our 6-member team, 7 listeners stepped up to the plate. Our thanks to Nathan in Cleveland, Tennessee who gave $25, N.B. in Ripon, North Yorkshire, England who gave $30, and Logan and Bianca in Manzini, Eswatini, Africa who gave $70. And we're grateful to God for Gloria in  Westminster, Colorado who gave $103.30, Payton in Georgetown, Texas who pledged $50/month for 12 months for a gift of $600, Amy in Eldorado, Wisconsin who gave $1,000, and Pamela in Sierra Madre, California who also gave $1,000. Those 7 Worldview listeners gave a total of $2,828.30. Ready for our new grand total? Drum roll please.  (Drum roll sound effect) $65,401.55 (People clapping and cheering sound effect)  Still need to raise $58,098.45!  Looking for 9 Super Donors! That means by this coming Monday, June 30th, we need to raise a whopping $58,098.45 in just 7 days.  Oh my!  I've got butterflies in my stomach. Is there 1 businessperson who could donate $10,000?  3 businesspeople who could give $5,000?  5 businesspeople who could contribute $2,500? If so, those donations would total $37,500. Then we would need another 8 people to pledge $100/month for 12 months for a gift of $1,200.  And another 16 people to pledge $50/month for 12 months for a gift of $600? Please, go to TheWorldview.com and click on Give on the top right.  If you want to make it a monthly pledge, click on the recurring tab. If everybody does something – no matter how big or small – we will knock this relatively modest budget out of the park. Attention donors from this year: Send email urging others to donate! Lastly, I would love to feature a 2-3 sentence email from those who have already given this year, whose names I will not cite, with your encouragement for your fellow listeners to consider a last minute gift.  Just include your city and state send it to Adam@TheWorldview.com Speak from your heart about why you gave and why you would urge others to join you to fund The Worldview in 5 Minutes. Close And that's The Worldview on this Tuesday, June 24th, in the year of our Lord 2025.  Follow us on X or subscribe for free by Spotify, Amazon Music, or by iTunes or email to our unique Christian newscast at www.TheWorldview.com.  Plus, you can get the Generations app through Google Play or The App Store. I'm Adam McManus (Adam@TheWorldview.com). Seize the day for Jesus Christ.

Cystic Fibrosis and obesity?  Until recently this has not been a topic of conversation for the CF community. The reason for obesity in the CF community is better health and longer lives, so the concern is now a reality.  University of Michigan CF doctor, Carey Lumeng is researching the issue.  As he says in this podcast, researchers have a lot to learn about the connection between better health in CF and obesity.  We also talk about The Bonnell Foundation fellowship program. A few years ago we started the program to encourage doctors to work in the specialty field of cystic fibrosis. Dr. Lumeng is one of the doctors who oversees this program.Dr. Lumeng is the Frederick G.L. Huetwell Professor for the Cure and Prevention of Birth Defects and Professor in Pediatrics and Molecular and Integrative Physiology. Dr. Lumeng is the Division Chief of Pediatric Pulmonology at the C.S. Mott Children's Hospital and Associate Director of the Michigan MSTP Program.He grew up in Indiana and graduated from Princeton University in Molecular Biology. He received his PhD in Human Genetics and MD from the University of Michigan and completed residency training in Pediatrics in the Boston Combined Pediatrics Residency Program at Boston Children's Hospital and Boston Medical Center. He then completed fellowship training in Pediatric Pulmonology at the University of Michigan and started as faculty in 2006.  He runs a research lab focused on the health effects of obesity and the links between metabolism and lung health. The laboratory participates in both basic science and translational research projects in adult and pediatric obesity. He is funded by the NIH and the CF Foundation for new projects studying the changing causes of diabetes in people with CF.To contact the CF pediatric department (the Bonnell girls are pictured on this page): https://www.mottchildren.org/conditions-treatments/cystic-fibrosis-pediatric?pk_vid=6ff46bd2d38fe04c1739891353f5b28b Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

Title: Journal Club Series Episode 12- Regression (eg, linear, logistic, survival analysis) Target Audience This activity is directed to physicians, medical students, nurse practitioners, nurses, and physician assistants. Objectives: Upon completion of this activity, participants should be able to: •      Describe the concept of regression. •      Differentiate between linear and logistic regression. •      Interpret survival analysis.  Course Directors: Tony R. Tarchichi MD — Associate Professor, Department of Pediatrics, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center (UPMC.) Paul C. Gaffney Division of Pediatric Hospital Medicine. No relationships with industry relevant to the content of this educational activity have been disclosed. Jenna Carlson Ph.D — Assistant Professor of Human Genetics and Biostatistics, University of Pittsburgh No relationships with industry relevant to the content of this educational activity have been disclosed. Conflict of Interest Disclosure: No other planners, members of the planning committee, speakers, presenters, authors, content reviewers and/or anyone else in a position to control the content of this education activity have relevant financial relationships to disclose. Accreditation Statement: In support of improving patient care, the University of Pittsburgh is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. The University of Pittsburgh School of Medicine designates this enduring material activity for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in the activity. Other health care professionals will receive a certificate of attendance confirming the number of contact hours commensurate with the extent of participation in this activity.   Disclaimer Statement: The information presented at this activity represents the views and opinions of the individual presenters, and does not constitute the opinion or endorsement of, or promotion by, the UPMC Center for Continuing Education in the Health Sciences, UPMC / University of Pittsburgh Medical Center or Affiliates and University of Pittsburgh School of Medicine.  Reasonable efforts have been taken intending for educational subject matter to be presented in a balanced, unbiased fashion and in compliance with regulatory requirements. However, each program attendee must always use his/her own personal and professional judgment when considering further application of this information, particularly as it may relate to patient diagnostic or treatment decisions including, without limitation, FDA-approved uses and any off-label uses. Released 4/15/2025,  Expires 4/15/2028 The direct link to the course is provided below: https://cme.hs.pitt.edu/ISER/app/learner/loadModule?moduleId=25795&dev=true

Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up. The papers discussed include: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Wilson et al Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology. Ng et al Rft1 catalyzes lipid-linked oligosaccharide translocation across the ER membrane. Chen et al Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG. Hirata et al Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. Morales-Romero et al N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. Garapati et al In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts. Shirakura et al Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. Budhraja et al D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). Starosta et al Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes. Baerenfaenger et al Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. Radenkovic et al

Listen in as Real Science Radio host Fred Williams and co-host Doug McBurney review and update some of Bob Enyart's legendary list of not so old things! From Darwin's Finches to opals forming in months to man's genetic diversity in 200 generations, to carbon 14 everywhere it's not supposed to be (including in diamonds and dinosaur bones!), scientific observations simply defy the claim that the earth is billions of years old. Real science demands the dismissal of the alleged million and billion year ages asserted by the ungodly and the foolish.     * Finches Adapt in 17 Years, Not 2.3 Million: Charles Darwin's finches are claimed to have taken 2,300,000 years to diversify from an initial species blown onto the Galapagos Islands. Yet individuals from a single finch species on a U.S. Bird Reservation in the Pacific were introduced to a group of small islands 300 miles away and in at most 17 years, like Darwin's finches, they had diversified their beaks, related muscles, and behavior to fill various ecological niches. Hear about this also at rsr.org/spetner.  * Finches Speciate in Two Generations vs Two Million Years for Darwin's Birds?  Darwin's finches on the Galapagos Islands are said to have diversified into 14 species over a period of two million years. But in 2017 the journal Science reported a newcomer to the Island which within two generations spawned a reproductively isolated new species. In another instance as documented by Lee Spetner, a hundred birds of the same finch species introduced to an island cluster a 1,000 kilometers from Galapagos diversified into species with the typical variations in beak sizes, etc. "If this diversification occurred in less than seventeen years," Dr. Spetner asks, "why did Darwin's Galapagos finches [as claimed by evolutionists] have to take two million years?" * Opals Can Form in "A Few Months" And Don't Need 100,000 Years: A leading authority on opals, Allan W. Eckert, observed that, "scientific papers and textbooks have told that the process of opal formation requires tens of thousands of years, perhaps hundreds of thousands... Not true." A 2011 peer-reviewed paper in a geology journal from Australia, where almost all the world's opal is found, reported on the: "new timetable for opal formation involving weeks to a few months and not the hundreds of thousands of years envisaged by the conventional weathering model." (And apparently, per a 2019 report from Entomology Today, opals can even form around insects!) More knowledgeable scientists resist the uncritical, group-think insistence on false super-slow formation rates (as also for manganese nodules, gold veins, stone, petroleum, canyons and gullies, and even guts, all below). Regarding opals, Darwinian bias led geologists to long ignore possible quick action, as from microbes, as a possible explanation for these mineraloids. For both in nature and in the lab, opals form rapidly, not even in 10,000 years, but in weeks. See this also from creationists by a geologist, a paleobiochemist, and a nuclear chemist. * Blue Eyes Originated Not So Long Ago: Not a million years ago, nor a hundred thousand years ago, but based on a peer-reviewed paper in Human Genetics, a press release at Science Daily reports that, "research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today." * Adding the Entire Universe to our List of Not So Old Things? Based on March 2019 findings from Hubble, Nobel laureate Adam Riess of the Space Telescope Science Institute and his co-authors in the Astrophysical Journal estimate that the universe is about a billion years younger than previously thought! Then in September 2019 in the journal Science, the age dropped precipitously to as low as 11.4 billion years! Of course, these measurements also further squeeze the canonical story of the big bang chronology with its many already existing problems including the insufficient time to "evolve" distant mature galaxies, galaxy clusters, superclusters, enormous black holes, filaments, bubbles, walls, and other superstructures. So, even though the latest estimates are still absurdly too old (Google: big bang predictions, and click on the #1 ranked article, or just go on over there to rsr.org/bb), regardless, we thought we'd plop the whole universe down on our List of Not So Old Things!   * After the Soft Tissue Discoveries, NOW Dino DNA: When a North Carolina State University paleontologist took the Tyrannosaurus Rex photos to the right of original biological material, that led to the 2016 discovery of dinosaur DNA, So far researchers have also recovered dinosaur blood vessels, collagen, osteocytes, hemoglobin, red blood cells, and various proteins. As of May 2018, twenty-six scientific journals, including Nature, Science, PNAS, PLoS One, Bone, and Journal of Vertebrate Paleontology, have confirmed the discovery of biomaterial fossils from many dinosaurs! Organisms including T. Rex, hadrosaur, titanosaur, triceratops, Lufengosaur, mosasaur, and Archaeopteryx, and many others dated, allegedly, even hundreds of millions of years old, have yielded their endogenous, still-soft biological material. See the web's most complete listing of 100+ journal papers (screenshot, left) announcing these discoveries at bflist.rsr.org and see it in layman's terms at rsr.org/soft. * Rapid Stalactites, Stalagmites, Etc.: A construction worker in 1954 left a lemonade bottle in one of Australia's famous Jenolan Caves. By 2011 it had been naturally transformed into a stalagmite (below, right). Increasing scientific knowledge is arguing for rapid cave formation (see below, Nat'l Park Service shrinks Carlsbad Caverns formation estimates from 260M years, to 10M, to 2M, to it "depends"). Likewise, examples are growing of rapid formations with typical chemical make-up (see bottle, left) of classic stalactites and stalagmites including: - in Nat'l Geo the Carlsbad Caverns stalagmite that rapidly covered a bat - the tunnel stalagmites at Tennessee's Raccoon Mountain - hundreds of stalactites beneath the Lincoln Memorial - those near Gladfelter Hall at Philadelphia's Temple University (send photos to Bob@rsr.org) - hundreds of stalactites at Australia's zinc mine at Mt. Isa.   - and those beneath Melbourne's Shrine of Remembrance. * Most Human Mutations Arose in 200 Generations: From Adam until Real Science Radio, in only 200 generations! The journal Nature reports The Recent Origin of Most Human Protein-coding Variants. As summarized by geneticist co-author Joshua Akey, "Most of the mutations that we found arose in the last 200 generations or so" (the same number previously published by biblical creationists). Another 2012 paper, in the American Journal of Physical Anthropology (Eugenie Scott's own field) on High mitochondrial mutation rates, shows that one mitochondrial DNA mutation occurs every other generation, which, as creationists point out, indicates that mtEve would have lived about 200 generations ago. That's not so old! * National Geographic's Not-So-Old Hard-Rock Canyon at Mount St. Helens: As our List of Not So Old Things (this web page) reveals, by a kneejerk reaction evolutionary scientists assign ages of tens or hundreds of thousands of years (or at least just long enough to contradict Moses' chronology in Genesis.) However, with closer study, routinely, more and more old ages get revised downward to fit the world's growing scientific knowledge. So the trend is not that more information lengthens ages, but rather, as data replaces guesswork, ages tend to shrink until they are consistent with the young-earth biblical timeframe. Consistent with this observation, the May 2000 issue of National Geographic quotes the U.S. Forest Service's scientist at Mount St. Helens, Peter Frenzen, describing the canyon on the north side of the volcano. "You'd expect a hard-rock canyon to be thousands, even hundreds of thousands of years old. But this was cut in less than a decade." And as for the volcano itself, while again, the kneejerk reaction of old-earthers would be to claim that most geologic features are hundreds of thousands or millions of years old, the atheistic National Geographic magazine acknowledges from the evidence that Mount St. Helens, the volcanic mount, is only about 4,000 years old! See below and more at rsr.org/mount-st-helens. * Mount St. Helens Dome Ten Years Old not 1.7 Million: Geochron Laboratories of Cambridge, Mass., using potassium-argon and other radiometric techniques claims the rock sample they dated, from the volcano's dome, solidified somewhere between 340,000 and 2.8 million years ago. However photographic evidence and historical reports document the dome's formation during the 1980s, just ten years prior to the samples being collected. With the age of this rock known, radiometric dating therefore gets the age 99.99999% wrong. * Devils Hole Pupfish Isolated Not for 13,000 Years But for 100: Secular scientists default to knee-jerk, older-than-Bible-age dates. However, a tiny Mojave desert fish is having none of it. Rather than having been genetically isolated from other fish for 13,000 years (which would make this small school of fish older than the Earth itself), according to a paper in the journal Nature, actual measurements of mutation rates indicate that the genetic diversity of these Pupfish could have been generated in about 100 years, give or take a few. * Polystrates like Spines and Rare Schools of Fossilized Jellyfish: Previously, seven sedimentary layers in Wisconsin had been described as taking a million years to form. And because jellyfish have no skeleton, as Charles Darwin pointed out, it is rare to find them among fossils. But now, reported in the journal Geology, a school of jellyfish fossils have been found throughout those same seven layers. So, polystrate fossils that condense the time of strata deposition from eons to hours or months, include: - Jellyfish in central Wisconsin were not deposited and fossilized over a million years but during a single event quick enough to trap a whole school. (This fossil school, therefore, taken as a unit forms a polystrate fossil.) Examples are everywhere that falsify the claims of strata deposition over millions of years. - Countless trilobites buried in astounding three dimensionality around the world are meticulously recovered from limestone, much of which is claimed to have been deposited very slowly. Contrariwise, because these specimens were buried rapidly in quickly laid down sediments, they show no evidence of greater erosion on their upper parts as compared to their lower parts. - The delicacy of radiating spine polystrates, like tadpole and jellyfish fossils, especially clearly demonstrate the rapidity of such strata deposition. - A second school of jellyfish, even though they rarely fossilized, exists in another locale with jellyfish fossils in multiple layers, in Australia's Brockman Iron Formation, constraining there too the rate of strata deposition. By the way, jellyfish are an example of evolution's big squeeze. Like galaxies evolving too quickly, 

Listen in as Real Science Radio host Fred Williams and co-host Doug McBurney review and update some of Bob Enyart's legendary list of not so old things! From Darwin's Finches to opals forming in months to man's genetic diversity in 200 generations, to carbon 14 everywhere it's not supposed to be (including in diamonds and dinosaur bones!), scientific observations simply defy the claim that the earth is billions of years old. Real science demands the dismissal of the alleged million and billion year ages asserted by the ungodly and the foolish.   * Finches Adapt in 17 Years, Not 2.3 Million: Charles Darwin's finches are claimed to have taken 2,300,000 years to diversify from an initial species blown onto the Galapagos Islands. Yet individuals from a single finch species on a U.S. Bird Reservation in the Pacific were introduced to a group of small islands 300 miles away and in at most 17 years, like Darwin's finches, they had diversified their beaks, related muscles, and behavior to fill various ecological niches. Hear about this also at rsr.org/spetner.  * Finches Speciate in Two Generations vs Two Million Years for Darwin's Birds?  Darwin's finches on the Galapagos Islands are said to have diversified into 14 species over a period of two million years. But in 2017 the journal Science reported a newcomer to the Island which within two generations spawned a reproductively isolated new species. In another instance as documented by Lee Spetner, a hundred birds of the same finch species introduced to an island cluster a 1,000 kilometers from Galapagos diversified into species with the typical variations in beak sizes, etc. "If this diversification occurred in less than seventeen years," Dr. Spetner asks, "why did Darwin's Galapagos finches [as claimed by evolutionists] have to take two million years?" * Opals Can Form in "A Few Months" And Don't Need 100,000 Years: A leading authority on opals, Allan W. Eckert, observed that, "scientific papers and textbooks have told that the process of opal formation requires tens of thousands of years, perhaps hundreds of thousands... Not true." A 2011 peer-reviewed paper in a geology journal from Australia, where almost all the world's opal is found, reported on the: "new timetable for opal formation involving weeks to a few months and not the hundreds of thousands of years envisaged by the conventional weathering model." (And apparently, per a 2019 report from Entomology Today, opals can even form around insects!) More knowledgeable scientists resist the uncritical, group-think insistence on false super-slow formation rates (as also for manganese nodules, gold veins, stone, petroleum, canyons and gullies, and even guts, all below). Regarding opals, Darwinian bias led geologists to long ignore possible quick action, as from microbes, as a possible explanation for these mineraloids. For both in nature and in the lab, opals form rapidly, not even in 10,000 years, but in weeks. See this also from creationists by a geologist, a paleobiochemist, and a nuclear chemist. * Blue Eyes Originated Not So Long Ago: Not a million years ago, nor a hundred thousand years ago, but based on a peer-reviewed paper in Human Genetics, a press release at Science Daily reports that, "research shows that people with blue eyes have a single, common ancestor. A team at the University of Copenhagen have tracked down a genetic mutation which took place 6-10,000 years ago and is the cause of the eye color of all blue-eyed humans alive on the planet today." * Adding the Entire Universe to our List of Not So Old Things? Based on March 2019 findings from Hubble, Nobel laureate Adam Riess of the Space Telescope Science Institute and his co-authors in the Astrophysical Journal estimate that the universe is about a billion years younger than previously thought! Then in September 2019 in the journal Science, the age dropped precipitously to as low as 11.4 billion years! Of course, these measurements also further squeeze the canonical story of the big bang chronology with its many already existing problems including the insufficient time to "evolve" distant mature galaxies, galaxy clusters, superclusters, enormous black holes, filaments, bubbles, walls, and other superstructures. So, even though the latest estimates are still absurdly too old (Google: big bang predictions, and click on the #1 ranked article, or just go on over there to rsr.org/bb), regardless, we thought we'd plop the whole universe down on our List of Not So Old Things!   * After the Soft Tissue Discoveries, NOW Dino DNA: When a North Carolina State University paleontologist took the Tyrannosaurus Rex photos to the right of original biological material, that led to the 2016 discovery of dinosaur DNA, So far researchers have also recovered dinosaur blood vessels, collagen, osteocytes, hemoglobin, red blood cells, and various proteins. As of May 2018, twenty-six scientific journals, including Nature, Science, PNAS, PLoS One, Bone, and Journal of Vertebrate Paleontology, have confirmed the discovery of biomaterial fossils from many dinosaurs! Organisms including T. Rex, hadrosaur, titanosaur, triceratops, Lufengosaur, mosasaur, and Archaeopteryx, and many others dated, allegedly, even hundreds of millions of years old, have yielded their endogenous, still-soft biological material. See the web's most complete listing of 100+ journal papers (screenshot, left) announcing these discoveries at bflist.rsr.org and see it in layman's terms at rsr.org/soft. * Rapid Stalactites, Stalagmites, Etc.: A construction worker in 1954 left a lemonade bottle in one of Australia's famous Jenolan Caves. By 2011 it had been naturally transformed into a stalagmite (below, right). Increasing scientific knowledge is arguing for rapid cave formation (see below, Nat'l Park Service shrinks Carlsbad Caverns formation estimates from 260M years, to 10M, to 2M, to it "depends"). Likewise, examples are growing of rapid formations with typical chemical make-up (see bottle, left) of classic stalactites and stalagmites including: - in Nat'l Geo the Carlsbad Caverns stalagmite that rapidly covered a bat - the tunnel stalagmites at Tennessee's Raccoon Mountain - hundreds of stalactites beneath the Lincoln Memorial - those near Gladfelter Hall at Philadelphia's Temple University (send photos to Bob@rsr.org) - hundreds of stalactites at Australia's zinc mine at Mt. Isa.   - and those beneath Melbourne's Shrine of Remembrance. * Most Human Mutations Arose in 200 Generations: From Adam until Real Science Radio, in only 200 generations! The journal Nature reports The Recent Origin of Most Human Protein-coding Variants. As summarized by geneticist co-author Joshua Akey, "Most of the mutations that we found arose in the last 200 generations or so" (the same number previously published by biblical creationists). Another 2012 paper, in the American Journal of Physical Anthropology (Eugenie Scott's own field) on High mitochondrial mutation rates, shows that one mitochondrial DNA mutation occurs every other generation, which, as creationists point out, indicates that mtEve would have lived about 200 generations ago. That's not so old! * National Geographic's Not-So-Old Hard-Rock Canyon at Mount St. Helens: As our List of Not So Old Things (this web page) reveals, by a kneejerk reaction evolutionary scientists assign ages of tens or hundreds of thousands of years (or at least just long enough to contradict Moses' chronology in Genesis.) However, with closer study, routinely, more and more old ages get revised downward to fit the world's growing scientific knowledge. So the trend is not that more information lengthens ages, but rather, as data replaces guesswork, ages tend to shrink until they are consistent with the young-earth biblical timeframe. Consistent with this observation, the May 2000 issue of National Geographic quotes the U.S. Forest Service's scientist at Mount St. Helens, Peter Frenzen, describing the canyon on the north side of the volcano. "You'd expect a hard-rock canyon to be thousands, even hundreds of thousands of years old. But this was cut in less than a decade." And as for the volcano itself, while again, the kneejerk reaction of old-earthers would be to claim that most geologic features are hundreds of thousands or millions of years old, the atheistic National Geographic magazine acknowledges from the evidence that Mount St. Helens, the volcanic mount, is only about 4,000 years old! See below and more at rsr.org/mount-st-helens. * Mount St. Helens Dome Ten Years Old not 1.7 Million: Geochron Laboratories of Cambridge, Mass., using potassium-argon and other radiometric techniques claims the rock sample they dated, from the volcano's dome, solidified somewhere between 340,000 and 2.8 million years ago. However photographic evidence and historical reports document the dome's formation during the 1980s, just ten years prior to the samples being collected. With the age of this rock known, radiometric dating therefore gets the age 99.99999% wrong. * Devils Hole Pupfish Isolated Not for 13,000 Years But for 100: Secular scientists default to knee-jerk, older-than-Bible-age dates. However, a tiny Mojave desert fish is having none of it. Rather than having been genetically isolated from other fish for 13,000 years (which would make this small school of fish older than the Earth itself), according to a paper in the journal Nature, actual measurements of mutation rates indicate that the genetic diversity of these Pupfish could have been generated in about 100 years, give or take a few. * Polystrates like Spines and Rare Schools of Fossilized Jellyfish: Previously, seven sedimentary layers in Wisconsin had been described as taking a million years to form. And because jellyfish have no skeleton, as Charles Darwin pointed out, it is rare to find them among fossils. But now, reported in the journal Geology, a school of jellyfish fossils have been found throughout those same seven layers. So, polystrate fossils that condense the time of strata deposition from eons to hours or months, include: - Jellyfish in central Wisconsin were not deposited and fossilized over a million years but during a single event quick enough to trap a whole school. (This fossil school, therefore, taken as a unit forms a polystrate fossil.) Examples are everywhere that falsify the claims of strata deposition over millions of years. - Countless trilobites buried in astounding three dimensionality around the world are meticulously recovered from limestone, much of which is claimed to have been deposited very slowly. Contrariwise, because these specimens were buried rapidly in quickly laid down sediments, they show no evidence of greater erosion on their upper parts as compared to their lower parts. - The delicacy of radiating spine polystrates, like tadpole and jellyfish fossils, especially clearly demonstrate the rapidity of such strata deposition. - A second school of jellyfish, even though they rarely fossilized, exists in another locale with jellyfish fossils in multiple layers, in Australia's Brockman Iron Formation, constraining there too the rate of strata deposition. By the way, jellyfish are an example of evolution's big squeeze. Like galaxies e

An interesting new study from the Geisinger health system in Pennsylvania examining if genomic screening in a large population increases the identification of disease risk prompted Raise the Line to re-release a previous episode about a textbook designed to help all medical providers understand the clinical applications of genomic testing. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling from Elsevier Science Direct dives into the use of this important tool in diagnosis and screening, indicating how individuals may respond to drug therapies, and more. “We really need to educate all healthcare providers about the practice of genetics because they're going to be involved directly or indirectly in genetic testing and conveying information about what the results mean to patients and their families,” explains co-author Dr. Ethylin Wang Jabs, enterprise chair of the Department of Clinical Genomics for Mayo Clinic. Jabs and her co-author, Dr. Antonie Kline, director of Clinical Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, chose a format that makes heavy use of case studies to help readers get a better grasp on this complicated field and they also include chapters on direct-to-consumer testing and the ethical and social implications in genomic medicine. “Any kind of potentially predictive testing can have ethical issues related to it, including insurance coverage, testing for family members, protections for minors, and more,” says Dr. Kline. Join host Caleb Furnas for an illuminating episode on an area of discussion in medicine that's growing in importance as the use of genetic testing rapidly increases. Mentioned in this episode: Genomics in the Clinic: A Practical Guide If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/raisethelinepodcast

The history of science is punctuated by moments of technological innovation that produce a paradigm shift and a subsequent flurry of discovery. A recent technological innovation that generated diverse discoveries, ranging from a profound shift in our understanding of the origin of humanity to a seismic change in the criminal justice system, is the polymerase chain reaction, or PCR. With us to discuss the history of PCR is one of its innovators, Henry Erlich. As Director of the Human Genetics Department at Cetus Corporation and later as Director of Human Genetics and Vice President of Exploratory Research at Roche Molecular Systems, Henry led developments in diagnostic applications for infectious and autoimmune diseases, forensic genetics, and organ transplantation. His laboratory performed the first forensic DNA case in the United States in 1986 and the first DNA-based post-conviction exoneration. Henry has published over 450 journal articles and three books, which include PCR Technology: Principles and Applications for DNA Amplification, Silent Witness: Forensic DNA Analysis in Criminal Investigations and Humanitarian Disasters, and Genetic Reconstruction of the Past: DNA Analysis in Forensics and Human Evolution. Henry has received numerous awards, including the Association for Molecular Pathology Award for Excellence (2000) and the Profiles in DNA Courage Award (National Institute of Justice, 2005).

This week we're joined by Director of Research in Human Genetics, Laura Hercher. In addition to establishing a healthy work-life balance, Tim and Laura discuss the wide-ranging consequences of treating embryos as people, when life begins, how the process of Genetic Counseling works, and what's a big way genetics plays a role in our lives that we're largely ignorant of.Follow Sarah Lawrence College on ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠,⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠,⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Vimeo⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠,⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, and⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠.And give this podcast a five star rating and review in Apple Podcasts or follow us on Spotify. Thanks for listening!

Title: Episode 6- Hypothesis Testing (e.g. Type 1 and Type II Errors, P-values) Target Audience This activity is directed to physicians who take care of hospitalized children, medical students, nurse practitioners, and physician assistants working in the emergency room, intensive care unit, or hospital wards. Objectives: Upon completion of this activity, participants should be able to: 1.      Discuss the definition and relevance of p-values. 2.      Discuss type 1 vs type ii errors. 3.      Discuss statistical significance and what it means.   Course Directors: Tony R. Tarchichi MD — Associate Professor, Department of Pediatrics, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center (UPMC.) Paul C. Gaffney Division of Pediatric Hospital Medicine. No relationships with industry relevant to the content of this educational activity have been disclosed. Jenna Carlson Ph.D. - University of Pittsburgh- Assistant Professor of Human Genetics and Biostatistics in school of Public Health No relationships with industry relevant to the content of this educational activity have been disclosed. Conflict of Interest Disclosure: No other planners, members of the planning committee, speakers, presenters, authors, content reviewers and/or anyone else in a position to control the content of this education activity have relevant financial relationships to disclose. Accreditation Statement: In support of improving patient care, the University of Pittsburgh is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.  The University of Pittsburgh School of Medicine designates this enduring material activity for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in the activity. Other health care professionals will receive a certificate of attendance confirming the number of contact hours commensurate with the extent of participation in this activity.   Disclaimer Statement: The information presented at this activity represents the views and opinions of the individual presenters, and does not constitute the opinion or endorsement of, or promotion by, the UPMC Center for Continuing Education in the Health Sciences, UPMC / University of Pittsburgh Medical Center or Affiliates and University of Pittsburgh School of Medicine.  Reasonable efforts have been taken intending for educational subject matter to be presented in a balanced, unbiased fashion and in compliance with regulatory requirements. However, each program attendee must always use his/her own personal and professional judgment when considering further application of this information, particularly as it may relate to patient diagnostic or treatment decisions including, without limitation, FDA-approved uses and any off-label uses. Released 2/20/2025,  Expires 2/20/2028 The direct link to the course is provided below: https://cme.hs.pitt.edu/ISER/app/learner/loadModule?moduleId=25580&dev=true

Episode 213: Challenging Medical Guidelines on Misattributed PaternityIn this special episode, host Richard Wenzel leads a compelling discussion with fellow NPEs Gina Daniel, Jodi Girard, Lily Wood, and Eve Sturges. Together, they dive into their recent article, Misattributed Paternity Discovery: A Critique of Medical Organizations' Recommendations, published in the American Journal of Human Genetics. The conversation explores the implications of current medical guidelines, personal experiences, and the broader impact of misattributed paternity discoveries.Resources mentioned:NPE GuideWho Even Am I Anymore? A process journal by Eve Sturges Untangling Our Roots NPE Stories Ep. 73 Richard's Story and Ep. 100 100th Episode of NPE StoriesEverything's Relative with Eve SturgesMisattributed paternity discovery: A critique of medical organizations' recommendationsby Richard Wenzel, Gina Daniel, Jodi Girard, Lily Wood, and Eve SturgesASHGOur Father on NetflixThe Little Dark One: A True Story of Switched at Birthby Shirley Munoz NewsomUprooted: Family Trauma, Unknown Origins, and the Secretive History of Artificial Inseminationby Peter J. BoniComments and Questions can be emailed to npeadvocate@gmail.com NPE Stories PatreonNPE Stories facebook pagehttps://www.facebook.com/NPEstories

In this episode of the Epigenetics Podcast, we talked with Giacomo Cavalli from the Institute of Human Genetics in Montpellier about his work on critical aspects of epigenetic regulation, particularly the role of Polycomb proteins and chromatin architecture. We start the Interview by talking about Dr. Cavalli's work on Polycomb function in maintaining chromatin states and how it relates to gene regulation. He shares insights from his early lab experiences, where he aimed to understand the inheritance mechanisms of chromatin states through various models, including the FAB7 cellular memory module. The discussion uncovers how Polycomb proteins can silence gene expression and the complex interplay between different epigenetic factors that govern this process. Dr. Cavalli also addresses how he has investigated the recruitment mechanisms of Polycomb complexes, highlighting the roles of several DNA-binding proteins, including DSP-1 and GAGA factor, in this intricate regulatory landscape. He emphasizes the evolution of our understanding of Polycomb recruitment, illustrating the multifactorial nature of this biological puzzle. As the conversation progresses, we explore Dr. Cavalli's fascinating research into the three-dimensional organization of the genome. He explains his contributions to mapping chromosomal interactions within Drosophila and the distinctions observed when performing similar studies in mammalian systems. Key findings regarding topologically associated domains (TADs) and their association with gene expression are presented, alongside the implications for our understanding of gene regulation in development and disease.   References Déjardin, J., Rappailles, A., Cuvier, O., Grimaud, C., Decoville, M., Locker, D., & Cavalli, G. (2005). Recruitment of Drosophila Polycomb group proteins to chromatin by DSP1. Nature, 434(7032), 533–538. https://doi.org/10.1038/nature03386 Sexton, T., Yaffe, E., Kenigsberg, E., Bantignies, F., Leblanc, B., Hoichman, M., Parrinello, H., Tanay, A., & Cavalli, G. (2012). Three-dimensional folding and functional organization principles of the Drosophila genome. Cell, 148(3), 458–472. https://doi.org/10.1016/j.cell.2012.01.010 Bonev, B., Mendelson Cohen, N., Szabo, Q., Fritsch, L., Papadopoulos, G. L., Lubling, Y., Xu, X., Lv, X., Hugnot, J. P., Tanay, A., & Cavalli, G. (2017). Multiscale 3D Genome Rewiring during Mouse Neural Development. Cell, 171(3), 557–572.e24. https://doi.org/10.1016/j.cell.2017.09.043 Szabo, Q., Donjon, A., Jerković, I., Papadopoulos, G. L., Cheutin, T., Bonev, B., Nora, E. P., Bruneau, B. G., Bantignies, F., & Cavalli, G. (2020). Regulation of single-cell genome organization into TADs and chromatin nanodomains. Nature genetics, 52(11), 1151–1157. https://doi.org/10.1038/s41588-020-00716-8   Related Episodes BET Proteins and Their Role in Chromosome Folding and Compartmentalization (Kyle Eagen) Long-Range Transcriptional Control by 3D Chromosome Structure (Luca Giorgetti) Epigenetic Landscapes During Cancer (Luciano Di Croce)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

We kick off 2025 on Raise the Line by sharing some good news for providers struggling to keep up with the growing number of applications for genomic testing: a new book from Elsevier Science Direct has been designed to arm you with the knowledge you need. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counselingdives into the use of this important tool in diagnosis and screening, indicating how individuals may respond to drug therapies, and more. “We really need to educate all healthcare providers about the practice of genetics because they're going to be involved directly or indirectly in genetic testing and conveying information about what the results mean to patients and their families,” explains co-author Dr. Ethylin Wang Jabs, enterprise chair of the Department of Clinical Genomics for Mayo Clinic. Jabs and her co-author, Dr. Antonie Kline, director of Clinical Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, chose a format that makes heavy use of case studies to help readers get a better grasp on this complicated field and they also include chapters on direct-to-consumer testing and the ethical and social implications in genomic medicine. “Any kind of potentially predictive testing can have ethical issues related to it, including insurance coverage, testing for family members, protections for minors, and more,” says Dr. Kline. Join host Caleb Furnas for an illuminating episode on an area of discussion in medicine that's growing in importance as the use of genetic testing rapidly increases.Mentioned in this episode: Genomics in the Clinic: A Practical Guide

In the fifth Season of the National Institute of Neurological Disorders and Stroke's Building Up the Nerve podcast, we help you strengthen your science communication skills with tools and advice to use throughout your career. We know that navigating your career can be daunting, but we're here to help—it's our job!In the seventh episode of the season, we talk about Engaging with Non-Scientists focusing on interactive strategies to promote public awareness of and participation in science, and spoke to the importance of being able to effectively communicate your work to multiple audiences.Featuring Jennifer Buckley, PhD, Professor in Mechanical Engineering at the University of Delaware and Co-Founder & President of The Perry Initiative; Sadhana Jackson, MD, Investigator in the Surgical Neurology Branch in the NIH National Institute of Neurological Disorders and Stroke; and Michael Wells, PhD, Assistant Professor of Human Genetics at the University of California, Los Angeles.ResourcesWatch Dr. Sadhana Jackson on Karen Hunter Show: https://www.youtube.com/watch?v=2AAo6zxKRxo The Perry Initiative: https://perryinitiative.org/ Society for Neuroscience Advocacy Network: https://www.sfn.org/advocacy/advocacy-network MIT Science Policy Initiative: https://mitspi.squarespace.com/ Transcript available at http://ninds.buzzsprout.com/.