Podcasts about Rett

Tuesday, February 17, 2026 - Week 8   We are flat out, thank you to the team who work full-time on SYNGAP1: VM KAH LP PP & KF.   CLINICAL TRIAL DESIGN We are Angelman-like. (Rett also) https://aesnet.org/abstractslisting/differentiating-key-symptoms-of-angelman-syndrome-as-and-syngap1-via-caregiver-reported-and-us-claims-data-to-understand-differences-between-how-providers-and-caregivers-view-impacts-on-patient-care Dravet or Angelman?  Phase 1/2 is when we try it all.  EEGs and NHS help with this effort.   BIOSAMPLES & EEGs! Biorepository needs more samples.  Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs.  The data and research we do with these samples is invaluable.  Let us know if you are going, email our CSO@curesyngap1.org.   (Stay tuned for another exciting device study…)   NATURAL HISTORY STUDY Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS NHS Survey in English: https://curesyngap1.org/SurveyProMMiS & Spanish: https://curesyngap1.org/encuestaProMMiS Latest Pod on NHS: https://youtu.be/7W38uWKBIAw?si=lCrffwMXidmYWz7t   FUNDRAISING - SPRINT4SYNGAP Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links: set up your team - cureSYNGAP1.org/Sprint26 resource guide for your event - cureSYNGAP1.org/S4SGuide webinar #99 to help get you started - cureSYNGAP1.org/S4S25   Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26 Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26   PUBMED Pubmed 2026 is at 9! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18) Cool connection to #PraderWilli Syndrome. https://www.linkedin.com/posts/graglia_syngap1-praderwilli-autism-share-7429579885985296385-zuIH   ETC - More warriors cureSYNGAP1.org/Warrior - Dr. Donlin-Asp Press Release cureSYNGAP1.org/PR42 see talk here https://www.youtube.com/watch?v=lR8qcZK-9ro - Bravo Sara Driscol and GeneDx https://www.linkedin.com/posts/genedx_beyondawareforrare-ugcPost-7427763511235248129-QPPL?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE   SOCIAL MATTERS 4,686 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1,520 YouTube.  https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1   $CAMP stock is at $3.85 on 17 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ   Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/ Episode 199 of #Syngap10 #CureSYNGAP1 #Podcast

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

I dagens sending snakker Hans Rustad og Helena Edlund om aktuelle saker.Hver morgen kl. 09.00 har Document en sending for deg. Mandag til onsdag sender vi «Rett på sak» med Espen Teigen. Et direkte og uredd nyhetsprogram for deg som er lei av NRK.Torsdag og fredag sender vi radiosendinger.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Boletim da ALMG - Edição n.º 6358

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Bli med i chatten! Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Høyesterett har sagt sitt om forvaringsdom i Baneheia-saken. Vi forteller hva den går ut på, hvorfor det var dissens og hva som er debatten om bruk av forvaring. I tillegg forklarer vi tingrettsdommen i saken mot Bhatti (saken er anket)Sindre Granly Meldalen, Merete Smith og Hadia Tajik besøker programleder Marianne Reinertsen for å fortelle om det som rører seg i jussens verden. Det blir Dagsnytt 18-stemning i studio når vi snakker om kriminalitetsutviklingen - for er egentlig ungdomskriminaliteten økende? Og alle fire har med seg hvert sitt juss-knask hvor det nerdes, filosoferes og debatteres over små og store saker fra den siste måneden. Hvis du vil høre mer om kritikken av forvaringsdommen, kan du høre forsvarer Frode Sulland fortelle om det i en episode av podkasten Rett og slett. Jusspodden sponses av Lovdata.See omnystudio.com/listener for privacy information.

Løpelegenden Ingrid Kristiansen knuser myten om at man må trene «hardt» for å bli best. Selv om hun har satt en rekke verdensrekorder på 10 000 meter og maraton, hevder hun at hun aldri har trent med makspuls. I denne episoden av «Stavrum & Eikeland» forteller hun om sitt spesielle «Grete Waitz-kompleks», den taktiske tabben som kostet henne OL-gullet i 1984, og hvorfor hun mener dagens mosjonister løper rett i «grinavdelingen» ved å starte for tøft.See omnystudio.com/listener for privacy information.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into a series of insightful updates that highlight the dynamic and rapidly evolving nature of these sectors, driven by scientific advancements, regulatory shifts, and strategic industry maneuvers.Starting with Merck, which is strategically planning for a post-Keytruda era, projecting over $70 billion in annual opportunities over the next decade. With Keytruda's patent expiration looming in 2028, Merck is actively expanding its portfolio through acquisitions and partnerships, focusing on oncology and immunology. These areas have been significantly impacted by Keytruda's success, and Merck's proactive approach aims to sustain growth and innovation beyond its current flagship product. During their 2025 full-year earnings call, CEO Robert Davis emphasized their expansive pipeline, highlighting recent strategic deals as pivotal to Merck's robust pipeline—the broadest it has been in years—signaling long-term growth through diversified therapeutic areas and innovative drug candidates.The U.S. Food and Drug Administration (FDA) is making waves with its regulatory approach to CAR-T cell therapies for autoimmune diseases. This shift reflects an increasing recognition of the potential these therapies hold for transforming treatment paradigms for conditions like lupus and multiple sclerosis. By offering a more flexible regulatory framework, the FDA is encouraging innovation while maintaining a focus on patient safety.In other regulatory news, AstraZeneca faces a setback with the FDA's rejection of its subcutaneous version of Saphnelo for lupus. The decision underscores the challenges associated with developing more patient-friendly administration methods for biologics. However, AstraZeneca remains optimistic about achieving a quick turnaround in the approval process, which could enhance patient adherence by offering a self-administered alternative to intravenous infusions.Sanofi finds itself in the spotlight after CEO Paul Hudson was sanctioned by the UK's Prescription Medicines Code of Practice Authority for making overly ambitious claims about Pfizer's RSV vaccine. This incident illustrates the competitive nature of vaccine procurement and underscores the importance of accurate communication by pharmaceutical leaders.In Massachusetts, Thermo Fisher Scientific is reducing its workforce with the closure of its Franklin site, impacting around 200 employees. This move is part of broader strategic realignments within the industry aimed at optimizing operations and focusing resources on high-growth areas.Acadia Pharmaceuticals faces potential rejection by the European Union for its drug trofinetide intended for Rett syndrome. This highlights ongoing challenges in gaining approval for treatments targeting rare diseases, despite their significant unmet needs.Meanwhile, GSK plans to lay off up to 350 R&D workers across the U.S. and UK as part of efforts to streamline operations and focus on core therapeutic areas. Such layoffs reflect broader industry trends toward consolidation and efficiency amid rising R&D costs.On a more promising note, Pfizer's GLP-1 receptor agonist has demonstrated significant results in a Phase 2b trial for weight loss, validating their substantial investment in this area. The drug's potential to offer competitive weight loss results with monthly dosing positions it as a strong contender in the obesity treatment market. Additionally, Pfizer continues to accelerate its efforts in obesity treatment with promising mid-stage trial results for PF-3944, showing up to a 12.3% weight loss at 28 weeks. This suggests Pfizer is keen on expanding its presence in obesity management through strategic clinical development as competition within this therapeutic area intensifies.The U.S. Department of Health and HumanSupport the show

Hvem har rett til å sette opp hekker og gjerder, og hvor? Må det være akkurat i grenseskillet, og må du spørre naboen om lov til å sette opp et gjerde eller plante en hekk? Og hvis naboen syns at gjerdet ditt er stygt, kan hun eller han kreve at du gjør noe med det? Dette er tema for denne episoden av Rett skal være rett. For alle. Episoden er ved HELPs advokater Kathrine Hagen Finrud, Øystein Gisvold Rennesund og Dag Are Børresen. Lyd: Francesco Hygen Puddu.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Deborah Ward | Point of View HR At Point of View HR Consulting, we help business leaders align their business goals with their Human Resources Operations. We offer a complimentary consultation to uncover the HR priorities and needs to develop a customized roadmap, addressing both strategic and operational objectives. A few areas of expertise include […]

Deborah Ward | Point of View HR At Point of View HR Consulting, we help business leaders align their business goals with their Human Resources Operations. We offer a complimentary consultation to uncover the HR priorities and needs to develop a customized roadmap, addressing both strategic and operational objectives. A few areas of expertise include […]

Gassprisen skyter igjen til himmels. Det er dårlig nytt for norsk og europeisk tungindustri, men øker inntjeningen til et par norske energiselskaper kraftig. Samtidig skyter også strømprisene i været. Hvor dyr blir denne vinteren? Med E24-journalist Kjetil Malkenes Hovland og E24s børskommentator Roar Valderhaug. Programleder Sindre Heyerdahl og produsent Erik Holm-Nyvold. Ansvarlig redaktør Lars Håkon Grønning. Hør E24-podden der du hører podkast. Analyser, nyheter og innsikt i business og næringsliv. E24-podden ble i mai 2025 kåret til årets aktualitetspodkast under Medieprisene i Bergen.

Vil det enorme medietrykket bety noe i saken mot Marius Borg Høiby? Hva skal egentlig til for å bli dømt? Og kan i så fall en pågående sak i Høyesterett gi en mildere straff? Kommentator Rakel Haugen Strand og Rett 24-redaktør Kjetil Kolsrud analyserer. Foto: Lise Åserud/NTB

In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians and researchers to explore the long, uncertain and often emotional journey to a genetic diagnosis. Together, they go behind the science to share what it means to live with uncertainty, how results like variants of uncertain significance (VUS) are experienced by families, and why communication and support matter just as much as genomic testing and research. The panel discuss the challenges families face when a diagnosis remains out of reach, the role of research in refining and revisiting results over time, and how collaboration between researchers, clinicians and participants could help shorten diagnostic journeys in the future. Joining Adam Clatworthy, Vice-Chair for the Participant Panel, on this episode are: Emma Baple – Clinical geneticist and Medical Director, South West Genomic Laboratory Hub  Jamie Ellingford – Lead genomic data scientist, Genomics England  Jo Wright – Member of the Participant Panel and Parent Representative for SWAN UK  Lisa Beaton - Member of the Participant Panel and Parent Representative for SWAN UK  Linked below are the episodes mentioned in the episode:  What is the diagnostic odyssey?  What is a Variant of Uncertain Significance?  Visit the Genomics England Research Summit website, to get your ticket to this years event. You can download the transcript, or read it below. Sharon: Hello, and welcome to Behind the Genes. My name is Sharon Jones and today we're bringing you a special episode recorded live from our Research Summit held in June this year. The episode features a panel conversation hosted by Adam Clatworthy, Vice-Chair of the Participant Panel. Our guests explore navigating the diagnostic odyssey, the often-complex journey to reaching a genetic diagnosis. If you'd like to know more about what the diagnostic odyssey is, check our bitesize explainer episode, ‘What is the Diagnostic Odyssey?' linked in the episode description. In today's episode you may hear our guests refer to ‘VUS' which stands for a variant of uncertain significance. This is when a genetic variant is identified, but its precise impact is not yet known. You can learn more about these in another one of our explainer episodes, “What is a Variant of Uncertain Significance?” And now over to Adam. -- Adam: Welcome, everyone, thanks for joining this session. I'm always really humbled by the lived experiences and the journeys behind the stories that we talk about at these conferences, so I'm really delighted to be hosting this panel session. It's taking us behind the science, it's really focusing on the people behind the data and the lived experiences of all the individuals and the families who are really navigating this system, trying to find answers and really aiming to get a diagnosis – that has to be the end goal. We know it's not the silver bullet, but it has to be the goal so that everyone can get that diagnosis and get that clarity and what this means for their medical care moving forwards.    So, today we're really going to aim to demystify what this diagnostic odyssey is, challenging the way researchers and clinicians often discuss long diagnostic journeys, and we'll really talk about the vital importance of research in improving diagnoses, discussing the challenges that limit the impact of emerging research for families on this odyssey and the opportunities for progress. So, we've got an amazing panel here. Rather than me trying to introduce you, I think it's great if you could just introduce yourselves, and Lisa, I'll start with you. Lisa: Hi, I'm Lisa Beaton and I am the parent of a child with an unknown, thought to be neuromuscular, disease. I joined the patient Participant Panel 2 years ago now and I'm also a Parent Representative for SWAN UK, which stands of Syndromes Without A Name. I have 4 children who have all come with unique and wonderful bits and pieces, but it's our daughter who's the most complicated. Adam:  Thank you. Over to you, Jo. Jo:  Hi, I'm Jo Wright, I am the parent of a child with an undiagnosed genetic condition.  So I've got an 11-year-old daughter. 100,000 Genomes gave us a VUS, which we're still trying to find the research for and sort of what I'll talk about in a bit.  And I've also got a younger daughter. I joined the Participant Panel just back in December. I'm also a Parent Rep for SWAN UK, so Lisa and I have known each other for quite a while through that. Adam:  Thank you, Jo.  And, Jamie, you're going to be covering both the research and the clinician side and you kind of wear 2 hats, so, yeah, over to you. Jamie:  Hi, everyone, so I'm Jamie Ellingford and, as Adam alluded to, I'm fortunate and I get to wear 2 hats. So, one of those hats is that I'm Lead Genomic Data Scientist for Rare Disease at Genomics England and so work as part of a really talented team of scientists and engineers to help develop our bioinformatic pipelines, so computational processes. I work as part of a team of scientists and software engineers to develop the computation pipelines that we apply at Genomics England as part of the National Health Service, so the Genomic Medicine Service that families get referred to and recruited to, and we try to develop and improve those. So that's one of my hats. And the second of those is I am a researcher, I'm an academic at the University of Manchester, and there I work really closely with some of the clinical teams in the North West to try and understand a little bit more about the functional impact of genomic variants on kind of how things happen in a cell. So, we can explore a little bit more about that but essentially, it's to provide a little bit more colour as to the impact that that genomic variant is having. Adam: Great, thank you, Jamie. Over to you, Emma. Emma: My name's Emma Baple, I'm an academic clinical geneticist in Exeter but I'm also the Medical Director of the South West genomic laboratory hub, so that's the Exeter and Bristol Genomics Laboratory. And I wear several other hats, including helping NHS England as the National Specialty Advisor for Genomics. Adam: Thank you all for being here. I think it's really important before we get into the questions just to ground ourselves in like those lived experiences that yourself and Jo and going through. So, Lisa, I'm going to start with you. The term ‘diagnostic odyssey' gets bandied around a lot, we hear about it so many times, but how does that reflect your experience that you've been through and what would you like researchers and clinicians to understand about this journey that you're on, essentially? Lisa: So I think ours is less an odyssey and more of a roller-coaster, and I say that because we sort of first started on a genetic journey, as it were, when my daughter was 9 weeks of age and she's now 16½ – the half's very important – and we still have no answers. And we've sort of come a bit backwards to this because when she was 6 months old Great Ormond Street Hospital felt very strongly that they knew exactly what was wrong with her and it was just a case of kind of confirmation by genetics. And then they sent off for a lot of different myasthenia panel genes, all of which came back negative, and so having been told, “Yes, it's definitely a myasthenia, we just need to know which one it is,” at 4 years of age that was removed and it was all of a sudden like, “Yeah, thanks, sorry.” And that was really hard actually because we felt we'd had somewhere to hang our hat and a cohort of people with very similar issues with their children, and then all of a sudden we were told, “No, no, that's not where you belong” and that was a really isolating experience. I can remember sort of saying to the neuromuscular team, “Well is it still neuromuscular in that case?” and there was a lot of shrugging of shoulders, and it just…  We felt like not only had we only just got on board the life raft, then we'd been chucked out, and we didn't even have a floaty. And in many ways I think I have made peace with the fact that we don't have a genetic diagnosis for our daughter but it doesn't get easier in that she has her own questions and my older children – one getting married in August who's already sort of said to me, you know, “Does this have implications for when we have children?”  And those are all questions I can't answer so that's really hard. Adam:  Thank you, Lisa. Yourself, Jo, how would you describe the odyssey that you're currently experiencing? Jo: So my daughter was about one when I started really noticing that she was having regressions. They were kind of there beforehand but, I really noticed them when she was one, and that's when I went to the GP and then got referred to the paediatrician. So initially we had genetic tests for things like Rett syndrome and Angelman syndrome, which they were all negative, and then we got referred on to the tertiary hospital and then went into 100,000 Genomes. So we enrolled in 100,000 Genomes at the beginning of 2017, and we got our results in April of 2020, so obviously that was quite a fraught time. Getting our results was probably not as you would want to do it because it was kind of over the phone and then a random letter. So, what I was told in that letter was that a variant of uncertain significance had been identified and they wanted to do further research to see if it might be more significant. So we were to be enrolled into another research project called Splicing and Disease, which wasn't active at the time because everything had been put on hold for COVID, but eventually we went into that. So, I didn't know what the gene was at that point, when I eventually got the form for going to get her bloods done…  So that went off and then that came back and the geneticist said, “That gives us some indication that it is significant.” So, since that point it's been trying to find more information and research to be able to make it a diagnosis. There have been 2 sort of key things that have happened towards that but we're still not there. So one of the things is that a research paper came out earlier this year so that's kind of a little bit more evidence, it's not going to give us a diagnosis but it kind of, you know, sits there. And the other thing is that my geneticist said, “Actually, yeah, it looks like it's an important change.”  That's as far as we've got. So we've still got work to do to make it a diagnosis or not.  Obviously if it is a diagnosis, it is still a one-of-a-kind diagnosis, so it doesn't give me a group to join or that kind of thing. But now I've got that research paper that I've read and read, and asked ChatGPT to verify that I've understood it right in some places, you know, with the faith that we put into ChatGPT (laughs), I've got a better understanding and I've got something now that I can look back on, the things that happened when my daughter was one, 2, 3, 4 and her development was all over the place and people thought that I was slightly crazy for the things I was saying, that “Actually, no, I can see what's happening.” So, it's like the picture's starting to come into focus but there's work to do. I haven't got a timeframe on that, I don't know when it's going to come together. And I always say that I'm a prolific stalker of the postman; ever since our first genetic tests you're just constantly waiting for the letters to drop through the door. So a diagnostic odyssey to me is just waiting for random events. Adam: I think what you've both kind of really clearly elaborated on is how you're the ones that are having to navigate this journey, you're the ones that are trying to piece this puzzle together, and the amount of time you're investing, all whilst navigating and looking after your child and trying to cope with the daily lived experience as well. And something you've both touched on that I'd love to draw out more is about how exactly was the information shared with you about the lack of diagnosis or the VUS or what's going on, because in our case you get this bit of paper through the post that has all these numbers and it's written in clinical speak and we had no conversation with the geneticist or the doctors. You see this bit of paper and you're reading it, scared for what the future will hold for your child, but I'd love to know like how were you communicated whilst all this is going on, how did you actually find out the next steps or any kind of future guidance. Lisa: So I think in our case we kept sort of going onto neuromuscular appointments, and I think for probably the first 5 years of my daughter's life I kind of had this very naïve thought that every time we turned up to an appointment it would be ‘the one' and then…   I think it would've been really helpful actually in those initial stages if they had said to us, “Actually, we don't know when this is going to happen, if it's even going to happen, you need to kind of prepare yourself for that.” It sounds fairly obvious to say but you don't know what you don't know. And in some ways we were getting genetic test results back for some really quite horrible things and they would tell us, “Oh it's good news, this mitochondrial disorder hasn't come up,” and so part of you is like, “Yay!” but then another part of you is thinking, “Well if it's not that what is it?” And we've very much kind of danced around and still don't really have an answer to whether it's life-limiting. We know it's potentially life-threatening and we have certain protocols, but even that is tricky. We live in North Yorkshire, and our local hospital are amazing. Every time we go in, if it's anything gastro-related, they say to me, “What's the protocol from Great Ormond Street?” and I say, “We don't have one” (laughs) and that always causes some fun. We try to stay out of hospitals as much as we absolutely can and do what we can at home but, equally, there's a point where, you know, we have to be guided by where we're going with her, with the path, and lots of phone calls backwards and forwards, and then is it going to be a transfer down to Great Ormond Street to manage it. And actually the way I found out that nothing had been found from 100,000 Genomes was in a passing conversation when we had been transferred down to Great Ormond Street and we'd been an inpatient for about 6 weeks and the geneticist said to me, “So obviously with you not having a diagnosis from the 100,000 Genomes…” and I said, “Sorry?  Sorry, what was that?  You've had the information back?”  And she said, “Well, yes, did nobody write to you?” and I said, “No, and clearly by my shock and surprise.” And she was a bit taken aback by that, but it happened yet again 2 years later (laughs) when she said, “Well you know everything's been reanalysed” and I said, “No.”  (Laughs)  And, so that's very much, it still feels an awful lot like I'm doing the heavy lifting because we're under lots of different teams and even when they're working at the same hospital they don't talk to each other. And I do understand that they're specialists within their own right, but nobody is really looking at my daughter holistically, and there are things that kind of interrelate across.    And at one of the talks I attended this morning they were talking about the importance of quality of life, and I think that is something that has to be so much more focused on because it's hard enough living without a diagnosis, but when you're living with a bunch of symptoms that, I think the best way I can describe it is at the moment we've got the spokes of the umbrella but we don't have the wrapper, and we don't know where we're going with it. We can't answer her questions, we can't even necessarily know that we're using the most effective treatments and therapies for her, and she's frustrated by that now, being 16, in her own right, as well as we are. And I'm panicking about the navigation towards Adult Services as well because at the minute at least we have a clinical lead in our amazing local paediatrician but of course once we hit and move into that we won't even have him and that's a really scary place to be, I think. Adam: Jo, is there anything you wanted to add on that in terms of how you've been communicated to whilst all this is going on? Jo: Yeah, so I think part of what makes it difficult is if you're across different hospitals because they're not necessarily going to see the same information. So obviously it was a bit of a different time when I got our results, but I got our results on a virtual appointment with a neurologist in one hospital, in the tertiary hospital, and because he could see the screen because it was the same hospital as genetics, and he said, “Oh you've got this” and then the letter came through later. When I had my next appointment with the neurologist in our primary hospital, or secondary care, whatever it's called, in that hospital, he hadn't seen that, so I'm telling him the results, which isn't ideal, but it happens quite a lot. What I think is quite significant to me is the reaction to that VUS.  I have to give it, the doctors that look after my daughter are brilliant, and I'm not criticising them in any way but their reaction to a VUS is “I'm so grateful for the persistence to get to a diagnosis.” Neurologists are a bit more like “Oh it's a VUS so it might be significant, it might be nothing.” Actually, as a patient, as in a parent, you actually want to know is it significant or not, “Do I look at it or not?” And, I mean, like I said, there were no research papers to look at before anyway until a few months ago so I didn't have anything to look at, but I didn't want to look at it either because you don't want to send yourself off down a path. But I think that collective sort of idea that once someone gets a VUS we need a pathway for it, “What do we do with it, what expectation do we set the patients up with and what is the pathway for actually researching further?” because this is where we really need the research. Adam:  Thank you, Jo. So, Emma, over to you in terms of how best do you think clinicians can actually support patients at navigating this odyssey and what's the difference between an initial diagnosis and a final diagnosis and how do you then communicate that effectively to the patients and their family?   Emma: So I think a key thing for me, and it's come up just now again, is that you need to remember as a doctor that the things you say at critical times in a patient's or parent's journeys they will remember – they'll remember it word for word even though you won't – and thinking about how to do that in the most sensitive, empathetic, calm, not rushed way is absolutely key.   And there are some difficulties with that when you're in a very high-pressure environment but it is absolutely crucial, that when you are communicating information about test results, when you're talking about doing the test in the first place, you're consenting the family, you're explaining what you're trying to do and those conditions, you balance how much information you give people.    So, you were talking earlier about “So you haven't got this diagnosis, you haven't got that diagnosis,” I often think it's…  We're often testing for numerous different conditions at the same time, I couldn't even list them all to the parents of the children or the patient that I'm testing. It's key to try and provide enough information without overwhelming people with so much information and information on specific conditions you are just thinking about as a potential.  Sometimes very low down your list actually but you can test for them.    Because people go home and they use the internet and they look things up and they get very, very worried about things. So, for me it's trying to provide bite-sized amounts of information, give it the time it deserves, and support people through that journey, tell them honestly what you think the chance of finding a diagnosis is. If you think it's unlikely or you think you know, sharing that information with family is helpful.   Around uncertainty, I find that a particular challenge. So, I think we've moved from a time when we used to, in this country, declare every variant we identified with an uncertain significance. Now, if we remember that we've all got 5 million variants in our genome, we've all got hundreds and hundreds… thousands and thousands, in fact, of variants of uncertain significance in our genetic code. And actually, unless you think a variant of uncertain significance genuinely does have a probability of being the cause of a child's or a patient's condition, sharing that information can be quite harmful to people.    We did a really interesting survey once when we were writing the guidelines for reporting variants of uncertain significance a few years ago. We asked the laboratories about their view of variants of uncertain significance and we asked the clinicians, and the scientists said, “We report variants of uncertain significance because the clinicians want them” and the clinicians said, “If the labs put the variant of uncertain significance on the report it must be important.” And of course, if you're a parent, if the doctor's told you the variant is a variant of uncertain significance of course you think it's important.    So, we should only be sharing that information, in my opinion, if it genuinely does have a high likelihood of being important and there are things that we can do. And taking people through that journey with you, with the degree of likelihood, the additional tests you need to do and explaining to them whether or not you think you will ever clarify that, is really, really key because it's very often that they become the diagnosis for the family.  Did I cover everything you think's important, both of you?  Lisa: I think the one thing I would say is that when you are patient- or parent-facing, the first time that you deliver that news to the parent… you may have delivered that piece of news multiple times and none of us sit there expecting you to kind of be overcome with emotion or anything like that but, in the same way that perhaps you would've had some nerves when, particularly if it was a diagnosis of something that was unpleasant, you know, to hold onto that kind of humanity and humility. Because for those patients and parents hearing that news, that is the only time they're ever hearing that, and the impact of that, and also, they're going on about with their day, you don't know what else they're doing, what they're juggling.    We're not asking you all to be responsible for kind of, you know, parcelling us up and whatnot but the way information is imparted to us is literally that thing we are all hanging our hats on, and when we're in this kind of uncertainty, from my personal experience I'm uncomfortable, I like to be able to plan, I'm a planner, I'm a researcher, I like to sort of look it up to the nth degree and that, and sitting in a place without any of that is, it's quite a difficult place to be. And it's not necessarily good news for those parents when a test comes back negative, because if it's not that then what is it, and that also leaves you feeling floundering and very isolated at times.  Adam: Yeah, and you touched upon the danger of like giving too much information or pushing families down a particular route, and then you have to pull them out of it when it's not that.   You talked about the experience you had, you felt like you'd found your home and then it's like, “Well, no, no, sorry, actually we don't think it's that.” And you've invested all of your time and your emotion into being part of that group and then you're kind of taken away again. So it's to the point where you have to be really sure before you then communicate to the families, and obviously in the meantime the families are like, “We just need to know something, we need to know,” and it's that real fine line, isn't it?    But, Jamie, over to you. Just thinking about the evolving nature of genomic diagnosis, what role does research play in refining or confirming a diagnosis over time?  Jamie: So it's really, really difficult actually to be able to kind of pinpoint one or 2 things that we could do as a community of researchers to help that journey, but perhaps I could reflect on a couple of things that I've seen happen over time which we think will improve things. And one of that's going back to the discussion that we've just had about how we classify genetic variants. And so, behind that kind of variant of uncertain significance there is a huge amount of effort and emotion from a scientist's side as well because I think many of the scientists, if not all, realise what impact that's going to have on the families.   And what we've tried to do as a community is to make sure that we are reproducible, and if you were to have your data analysed in the North West of England versus the South West that actually you'd come out with the same answer. And in order to do that we need guidance, we need recommendations, we need things that assist the scientists to actually classify those variants.  And so, what we have at the moment is a 5 point scale which ranges from benign to likely benign, variant of uncertain significance, unlikely pathogenic variant and pathogenic variant. It's objective as to how we classify a variant into one of those groups and so it's not just a gut feeling from a scientist, it's kind of recordable measurable evidence that they can provide to assist that classification.   So in many instances what that does is provide some uncertainty, as we've just heard, because it falls into that zone of variant of uncertain significance but what that also does is provide a framework in which we can generate more evidence to be able to classify it in one direction or another to become likely pathogenic or to become likely benign. And as a research community we're equipped with that understanding –– and not always with the tools but that's a developing area – to be able to do more about it.   What that doesn't mean is that if we generate that evidence that it can translate back into the clinic, and actually that's perhaps an area that we should discuss more. But kind of just generating that evidence isn't always enough and being able to have those routes to be able to translate back that into the hands of the clinicians, the clinical scientists, etc, is another challenge. Adam:  And how do you think we can drive progress in research to deliver these answers faster, to really try and shorten those diagnostic journeys, like what are the recommendations that you would say there? Jamie:  So being able to use the Genomics England data that's in the National Genomic Reference Library, as well as kind of other resources, has really transformed what we can do as researchers because it enables teams across the UK, across the world to work with data that otherwise they wouldn't be able to work with.   Behind that there's an infrastructure where if researchers find something which they think is of interest that can be reported back, it can be curated and analysed by teams at Genomics England and, where appropriate, kind of transferred to the clinical teams that have referred that family. And so having that pathway is great but there's still more that we can do about this. You know, it's reliant on things going through a very kind of fixed system and making sure that clinicians don't lose contact with families – you know, people move, they move locations, etc. And so, I think a lot of it is logistical and making sure that the right information can get to the right people, but it all falls under this kind of umbrella of being able to translate those research findings, where appropriate, into clinical reporting.   Adam:  Thank you. And, Emma, is there anything you would add in terms of like any key challenges that you think need to be overcome just to try and shorten the journeys as much as possible and find the answers to get a diagnosis?  Emma: I think trying to bridge that gap between some of the new technologies and new approaches that we've got that we can access in a research context and bringing those into diagnostics is a key area to try to reduce that diagnostic odyssey, so I really want to see the NHS continuing to support those sorts of initiatives.   We're very lucky, as Jamie said, the National Genomic Research Library has been fundamental for being able to reduce the diagnostic odyssey for large numbers of patients, not just in this country but around the world, and so trying to kind of look at how we might add additional data into the NGRL, use other research opportunities that we have in a more synergistic way with diagnostics I think is probably key to being able to do that.    We are very lucky in this country with the infrastructure that we've got and the fact that everything is so joined up. We're able to provide different opportunities in genomics for patients with rare conditions that aren't so available elsewhere in the world.  Adam: Great, thank you. I think we're it for time, so thank you very much to the panel. And I'd just say that if you do have any further questions for ourselves as participants then we're only too happy to pick those up. Thank you for lasting with us ‘til the end of the day and hope to see you soon.  -- Sharon: A huge thank you to our panel, Adam Clatworthy, Emma Baple, Jo Wright, Lisa Beaton and Jamie Ellingford, for sharing their insights and experiences. Each year at the summit, the Behind the Genes stage hosts podcast style conversations, bringing together researchers, clinicians and participants to discuss key topics in genomics.  If you're interested in attending a future Genomics England Research Summit, keep an eye out on our socials. If you'd like to hear more conversations like this, please like and subscribe to Behind the Genes on your favourite podcast app. Thank you for listening.    I've been your host, Sharon Jones. The podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac.

Interessen for den kristne ungdomsfestivalen Impuls i Stavanger har aldri vært større. I år blir den derfor arrangert to helger på rad i januar med til sammen 3.000 deltakere. Journalist Alice Tegle forteller om inntrykk fra egen ungdom som deltaker og nå som journalist. Videre snakker vi om konferansen Disippelskap i en kjønnsforvirret tid. Den ble arrangert i Oslo sist helg. Hovedtaler var Katy Faust, som opplevde at foreldrene skilte seg og at moren etablerte seg i et lesbisk forhold. Til slutt tar vi utgangspunkt i Dagens intervju med pinseteologen Silje Kvamme Bjørndal som er blitt medlem i Den norske kirke. Er de dogmatiske skillene mellom kirkesamfunn blitt mindre viktige, og i tilfelle hvorfor? Marianne Eide, Eivind Algrøy, Sofie Braut og Tore Hjalmar Sævik deltar. Hosted on Acast. See acast.com/privacy for more information.

Det hender at naboer både diskuterer og er uenige om hvor eiendomsgrensene går, og om hekken står på riktig sted, slik vi snakket om i en tidligere episode av "Rett skal være rett. For alle". Da er det naturlig å sjekke offentlige kart. Men offentlige kart, for eksempel de du finner på kartverket.no eller seeiendom.no er heller ikke nødvendigvis riktige. Hvordan kan det ha seg? Og hvordan finner vi da ut hvor grensene går? Og blir vi ikke enige: Hvem kan hjelpe oss? Episoden er ved HELPs advokater Kathrine Hage Finrud, Øystein Rennesund og Dag Are Børresen. Lyd: Francesco Hygen Puddu.        

Interessen for den kristne ungdomsfestivalen Impuls i Stavanger har aldri vært større. I år blir den derfor arrangert to helger på rad i januar med til sammen 3.000 deltakere. Journalist Alice Tegle forteller om inntrykk fra egen ungdom som deltaker og nå som journalist. Videre snakker vi om konferansen Disippelskap i en kjønnsforvirret tid. Den ble arrangert i Oslo sist helg. Hovedtaler var Katy Faust, som opplevde at foreldrene skilte seg og at moren etablerte seg i et lesbisk forhold. Til slutt tar vi utgangspunkt i Dagens intervju med pinseteologen Silje Kvamme Bjørndal som er blitt medlem i Den norske kirke. Er de dogmatiske skillene mellom kirkesamfunn blitt mindre viktige, og i tilfelle hvorfor? Marianne Eide, Eivind Algrøy, Sofie Braut og Tore Hjalmar Sævik deltar Hosted on Acast. See acast.com/privacy for more information.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Bli med i chatten! Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Bli med i chatten! Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Bli med i chatten! Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Bli med i chatten! Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

På bakgrunn av et nyhetsbilde som koker har vi søndag kveld en x-trasending med stikkord "Grønland". Var det klokt av Trump å spille tollkortet mot åtte europeiske land? Hvorfor gjorde han det? Norske medier har innført begrepet TACO om Trump - opp som en bjørn og ned som en skinnfell. En økonomireporter fra M24 medgir at Wall Street går så det suser, men mener de ikke har fått med seg hva som foregår mellom Washington og europeiske allierte. Når de oppdager det vil nok Trump bli nødt for å krype til korset.Norske medier har dyrket bildet av Trump som en uforutsigbar galning. Men hva hvis de tar feil? Hva hvis de har satset alt og sitter tomhendt tilbake? Den muligheten nevnes ikke en gang i mediene og det finnes heller ikke rom for tvil i medienes utspørring av politikerne. De er alle i samme båt.Kan den synke?Med i sendingen er tidligere diplomat, nå kommentator i Document, "vaktmesteren" Øystein Steiro, Christian Skaug og red. Vi håper også å få inn Espen Teigen med en kommentar om hva FrP tenker om Grønland og forholdet til EU og USA.En ting skinner tydelig igjennom i medienes dekning: De håper å bruke Grønland som et pressmiddel for å svinge opinionen i retning medlemskap i EU, slik Ukraina ble brukt for å få Sverige og Finland inn i Nato.Sendingen begynner kl. 20.00

I dagens sending snakker Hans Rustad og Helena Edlund om aktuelle saker.Hver morgen kl. 09.00 har Document en sending for deg. Mandag til onsdag sender vi «Rett på sak» med Espen Teigen. Et direkte og uredd nyhetsprogram for deg som er lei av NRK.Torsdag og fredag sender vi radiosendinger.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Jólin búin. Amorim búinn, Maresca búinn, löng drive, nærbuxur í sundi.

Rett på sak er direkte tydelige meninger og usensurerte nyheter kl. 09.00.Som alltid får du de usensurerte nyhetene og ærlige perspektivene du ikke finner hos NRK.Kom gjerne med forslag til saker ved å sende oss en e-post eller skrive i kommentarfeltet.

Julie A. Parsons, MD Haberfield Endowed Chair in Pediatric Neuromuscular DisordersProfessor of Clinical Pediatrics and NeurologyUniversity of Colorado School of Medicine, Children's Hospital ColoradoAurora, CO, USAAs we talk about the gene transfer therapies and the modalities that we have to use, it's really interesting. Yesterday, with our keynote speaker, you could see this logarithmic growth of the use of gene transfer therapies for these disorders. If you look at the Venn diagram, you can see that really 27% almost of gene transfer therapies that are used are in musculoskeletal and neurology. For many of us as neurologists, we also take care of metabolic disorders.We really own right now this landscape, and of course, our two approved modalities are Onasemnogene and Delandistrogene. We're going to look at three different disorders, monogenic disorders, monogenic diseases, to typify what we look at in terms of some of the risks and benefits of these treatments. SMA, Duchenne, and X-linked myotubular myopathy are all rare disorders. They're all diseases that have a high unmet medical need and a significant disease burden.I think they're all good in terms of typifying where we are clinically with these disorders. The first question is, is it worth it? Are these effective treatments? We know from looking at the information about SMA that just looking early on, we know that if we treat kids early, that we do see a marked improvement in motor scores for kids that are treated early with Onasemnogene.In Duchenne, we have information that there is at least some improvement in the 4-5-year-olds in terms of motor skills treated with Delandistrogene. In terms of X-linked MTM, which was a very dramatic improvement, you could see that for boys who were basically traked, vented, and had no mobility, the bottom line, the blue line, is actually looking at ventilator dependence. Are they effective? Yeah, they're effective, but then we have to say, okay, what's the downside?The downside is that there's tremendous risk associated with treatment with these agents. If we really look at the sobering facts, we know that with SMA, there have been deaths, there have been fatalities related to thrombotic microangiopathy to patients who have liver failure, a couple of patients have died. With Onasemnogene, this is 4,000 plus doses that have so far been given. With Duchenne, unfortunately, many of us got the letter yesterday talking about an additional death in a patient treated with commercial Delandistrogene.We also know with some of the other agents, like fordadistrogene, patient died of heart failure, cardiac arrest, another patient who had acute respiratory syndrome with pulmonary edema. Again, we look at this and say this is significant. With X-linked MTM, as Alan said, there were some unanticipated deaths, four deaths from patients who ended up having cholestatic liver diseases that really wasn't anticipated prior to the patients being treated with the animal models and all that we had. Then many of you have heard about the patient with Rett syndrome who had a systemic hyperinflammatory syndrome. Again, these are rare disorders. They have a high disease burden, but the risk of treatment is significant.In the next part, Dr. Parsons discuss factors impacting safety and efficacy of AAV-mediated 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.

This week we discuss 2005's stoner comedy Tenacious D in The Pick Of Destiny, starring Jack Black and Kyle Gass. This movie was a favorite of Rett's back in the day, but Wes hasn't seen it since release. How does it hold up almost 20 years later? Is it a product of its time or has become a quotable classic? Listen and find out what we thought!Listen on Spreaker:https://www.spreaker.com/episode/tenacious-d-in-the-pick-of-destiny--69148775Direct download link:https://api.spreaker.com/v2/episodes/69148775/download.mp3

Nok et går har gått i jussens verden. Kjetil Kolsrud fra Rett 24, advokat Jenny Sandvig og programleder Marianne Reinertsen gir deg sine favorittsaker fra 2025. I tillegg skuer de inn i det nye året for å trekke frem noen spennende saker de gleder seg til. Marianne deler litt sesongbasert julejuss når hun forteller om forskriften som gjør godteposen til en saga blott. I tillegg trekker hun frem saken om forbyttede babyer på fødestua, som hadde sin oppfølger i lagmannsretten i november. Kjetil filosoferer litt rundt saken om at politiets praksis ikke følger helt klar ordlyd og Jenny trekker frem Høyesterettssaken "Red Rock" (HR-2025-251-A). "Den mest spennende saken neste år har vi ikke hørt om ennå!", sier Kjetil Kolsrud om jussåret 2026. Men hva gleder panelet seg til av saker som vi alt vet om? Det kan du høre mer om i ukens episode! Hvilken sak mener du blir viktig i 2026? Ta kontakt på jusspodden@gmail.com. Neste uke kommer en julebonus med rettssak mot julenissen! Jusspodden sponses av stiftelsen Lovdata. Lenker over leder til Lovdatas åpne sider. Jusspodden er uavhengig og Lovdata legger ikke føringer på produksjonen.See omnystudio.com/listener for privacy information.

De tyske justisministerne bøyer av for presset, tiltakene mot fri tribunekultur er kastet overbord. Hamburger Sport-Verein ender en berg og dalbane av en uke med yogamål, og Youssef Poulsen får endelig oppleve hvor gøy fotball kan være. Magdeburg ender i vollgraven i Berlin. Sandro Wagner blir for fargerik for Tysklands gråeste lag, drømmestarten i Augsburg blir til mareritt for alle. Dortmund og Ruhr er klar for både Eivind, Runar og noen tusen bodøværinger!See omnystudio.com/listener for privacy information.

Klimarettssaker har preget hele 2025 – og november intet unntak Advokat Jenny Sandvig representerer miljøorganisasjoner i flere saker. Kjetil Kolsrud er redaktør i Rett 24. I denne episoden forteller de om seieren for miljøorganisasjonene i klimasøksmål nr 2 i lagmannsretten, EMDs avgjørelse i Klimasøksmål Arktis fra oktober og Førdefjord-søksmålet som også fikk en avgjørelse om midlertidig stans i november. Jenny forteller også om kommende saker nasjonalt og internasjonalt - og ICJ sin avgjørelse fra i sommer. Jenny prosederer godt miljøorganisasjonenes sak og Kjetil tar på seg statshatten for anledningen, slik at begge sider er representert. Marianne spør hvilke konsekvenser klimasøksmålene har og hva som vil skje fremover. Jusspodden sponses av Lovdata See omnystudio.com/listener for privacy information.

Martin Bech Holtes nye bok “Alternativt statsbudsjett” er tema i denne utgaven. Hør en ny episode av Økonomisk halvtime med Civitas to samfunnsøkonomer, Steinar Juel og Øystein Olsen.See omnystudio.com/listener for privacy information.

Rett før innspillingen av denne episoden ble lovforslaget om å tvinge Justisdepartementet til å offentliggjøre Epstein-dokumenter vedtatt med et stort flertall i Representantenes Hus. Det skjedde fordi Trump snudde for bare noen dager siden og nå sier han ønsker å offentliggjøre dokumentene.  Samtidig har han også fått besøk av Saudi-Arabias kronprins Mohammed Bin Salman. 

Furman assistant coach, Rett Lister, provides advice and insights to young coaches looking to rise the coaching ranks. We talk what it takes to be recruited, teaching players conceptual offense and defense, using analytics with players, and structuring practices.This episode is sponsored by the Dr. Dish Basketball Shooting Machine. Mention "Quick Timeout" and receive $300 off on the Dr. Dish Rebel, All-Star, and CT models. Get $100 off the IC3 Basketball Shot Trainer with the code TONYMILLER (or click this link).If you're already using tools like FastDraw, FastScout, or FastRecruit—you know how essential they are to your workflows. And now that they're fully part of the Hudl ecosystem, they're more powerful than ever. From film and play diagrams to scouting reports and custom recruiting boards, everything flows together. One system. Built for high-performance programs. Learn more at hudl.com/aquicktimeout. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

This week, Brent speaks with Sir Adrian Bird, the pioneering geneticist whose discoveries on DNA methylation reshaped our understanding of how genes are regulated. Bird explains what DNA methylation actually is and why he's skeptical of popular claims that it determines "biological age" or can be easily hacked to reverse aging. They discuss his groundbreaking work on Rett syndrome, how CRISPR gene editing is being used in clinical trials to potentially cure it, and what that might mean for other neurological diseases. He's a wonderful guest. Hope you enjoy.

BASE jumping in national parks is illegal, but with the federal government shut down, some thrillseekers are taking advantage of the situation. CBS News' Carter Evans explains. California Gov. Gavin Newsom told Robert Costa in a "CBS Sunday Morning" exclusive interview that he'll consider a 2028 White House bid. Costa joins "CBS Mornings" to discuss what Newsom said will guide his decision and who else could enter the Democratic race. Writer and filmmaker Cameron Crowe joins "CBS Mornings" to talk about his new memoir, "The Uncool," where he reveals the true stories behind his classic film, "Almost Famous," and his early days interviewing legends like Led Zeppelin, David Bowie, and the Allman Brothers. In this week's "Dear David," CBS News contributor David Begnaud shares two powerful stories of love: Jerome and Agnes Bourgeois of Houston, marking 66 years of marriage through song, and 9-year-old Nora Vaughn of Louisiana, spreading laughter to raise money for her sister with Rett syndrome. World-renowned mentalist Oz Perlman joins "CBS Mornings" for his first live TV interview about his new book, "Read Your Mind: Proven Habits for Success from the World's Greatest Mentalist." He shares how techniques used to read people can also unlock personal and professional potential. To learn more about listener data and our privacy practices visit: https://www.audacyinc.com/privacy-policy Learn more about your ad choices. Visit https://podcastchoices.com/adchoices

In this heartfelt, high-energy conversation, Stephanie Bohn—entertainment veteran turned startup founder—traces her journey from American Express to 13 years at Warner Bros., scaling Rotten Tomatoes, a pivotal stint at Netflix, and ultimately to purpose-built entrepreneurship. Stephanie shares how “raising your hand before you feel 100% ready” opened doors to building new business lines (hello, early App Store days) and leading through ambiguity. We dig into her time as CMO at Chief, the power of peer boards for executive women, and what servant leadership looks like in practice. The episode turns deeply personal as Stephanie opens up about her daughter's Rett syndrome diagnosis, the broken systems families navigate, and how that sparked Truly Care—a mission-driven platform connecting families with specialized caregivers and guiding them to underused respite resources. It's a masterclass in turning obsession into action, finding champions, and designing a life that sustains both ambition and wellbeing.We cover:Spotting and pitching opportunities before you're “ready”Intrapreneurship at scale: apps, IP, and the Rotten Tomatoes playbookInside Chief: “who mentors the mentors?” and changing the face of leadershipCaregiving as infrastructure: access, affordability, and dignityDefining servant leadership and leading by removing obstaclesFounder fuel: memoirs, The Pitch podcast, and mindset rituals that stickGuest links:LinkedInWebsiteInstagramMic-drop moment: “If you're obsessed with the idea, break it into nano-steps, find your champions, and build the scaffolding until it exists.”

Stardust Rhapsody: Anthem is a sci-fi D&D campaign that features Pyke, Rett, and the rest of the Rhapsody crew as they sail through the aether hunting bounties and getting way in over their heads. We stream this campaign live monthly on Saturdays!   You do NOT need to listen to Overture to enjoy Anthem! If you have the appetite to listen to both, we recommend starting with Anthem, then going back to listen to Overture!   Gain access to an exclusive campaign, Shroud Over Saltmarsh, over on Patreon: https://legendsofavantris.com/patreon The Crooked Moon, a folk horror supplement for 5e, is available for preorder! Get the Crooked Moon at: https://thecrookedmoon.com/ Watch more D&D adventures in the world of Avantris live on Twitch: https://www.twitch.tv/legendsofavantris Check out our merch store: https://shop.legendsofavantris.com  Join our community on Discord: https://legendsofavantris.com/discord Watch our many campaigns on YouTube: https://legendsofavantris.com/youtube  All other links: https://linktr.ee/legendsofavantris   Watch the full episode here: https://youtu.be/h-8umO8Frpo?si=uK2cFpfKv5EEeDA4