Podcasts about VUS

Ford teste le terrain pour un futur Lincoln Bronco ?ÉPISODE 573 | TORQDans cet épisode de TORQ, on parle du nouveau Ford Bronco Filson et de ce qu'il pourrait représenter pour l'avenir de Ford et Lincoln. Est-ce que cette version plus premium, plus luxueuse et plus lifestyle du Bronco est simplement une édition spéciale? Ou est-ce le premier vrai signal d'un futur Lincoln Bronco, un 4x4 de luxe américain capable de rivaliser avec le Land Rover Defender?Le Bronco Filson apporte une approche différente : plus de raffinement, une vibe outdoor haut de gamme, une image plus mature, et un positionnement qui dépasse le simple véhicule hors-route. Avec le succès du Ford Bronco, la montée des SUV d'aventure premium et l'intérêt grandissant pour les véhicules de luxe capables de sortir des sentiers battus, Lincoln pourrait avoir une vraie opportunité.Dans cet épisode, on analyse :Le Ford Bronco FilsonLe potentiel d'un futur Lincoln BroncoLa stratégie de Ford avec les éditions premium du BroncoLe positionnement face au Land Rover DefenderLe marché des 4x4 de luxePourquoi Lincoln pourrait avoir besoin d'un véhicule plus émotionnelLe lien entre Bronco, Filson, luxe, aventure et image lifestyleEst-ce que Ford teste tranquillement le marché avant de lancer un vrai Lincoln Bronco?Est-ce que Lincoln devrait créer son propre 4x4 de luxe?Et surtout, est-ce qu'un Lincoln Bronco pourrait devenir le Defender américain?Abonnez-vous à TORQ pour plus d'actualités automobiles, analyses, essais routiers, trucks, VUS, véhicules hors-route, voitures électriques, performance et industrie automobile canadienne.#LincolnBronco #FordBronco #BroncoFilson

In this episode, reproductive endocrinologist Dr. Natalie Crawford sits down with board-certified breast surgeon Dr. Sangeetha Kaluri to unpack a vital conversation around the rising rates of breast cancer diagnoses in young women. Moving past generic, one-size-fits-all medical advice, they dive deep into the absolute necessity of personalized screening and risk assessments to ensure no woman slips through the cracks. By highlighting how true self-advocacy and early action save lives, this episode serves as a critical blueprint for young women looking to take control of their own breast health and reproductive futures. What You'll Learn: The surprising intersection of the peripartum period and an elevated baseline risk that every postpartum woman needs to understand. Why standard age-based screening guidelines might fail young women, and the specific diagnostic gaps that occur before age 40. The hidden relationship between a customized hereditary cancer gene panel and navigating complex results like variants of unknown significance (VUS). How a specific, free online tool uses your detailed family history and imaging data to completely personalize your preventative screening schedule. The critical timeline linking urgent fertility preservation, chemotherapy, and protecting your ovarian reserve after an unexpected diagnosis. Guest Resources: Instagram: @breasttexas Tiktok: @wildflowerbreastcenter Website: wildflowerbreast.com Host Resources: Order The Fertility Formula! ⁠https://www.nataliecrawfordmd.com/book⁠ Newsletter: nataliecrawfordmd.com/newsletter Instagram: @nataliecrawfordmd Youtube Channel: Natalie Crawford MD Interested in becoming a patient?: Fora Fertility Earn FREE CE/CME: Learn at Pinnacle App This episode is brought to you by The Pinnacle Podcast Network.  Learn more about your ad choices. Visit megaphone.fm/adchoices

Quelle marque auto a la meilleure… et la pire réputation au Québec ?TORQ – Épisode 560Quelle marque automobile a la meilleure réputation au Québec… et laquelle se retrouve au fond du classement? Dans cette vidéo TORQ, on analyse l'étude Léger Réputation 2026 – Québec pour voir quelles marques auto inspirent le plus confiance aux Québécois, lesquelles chutent, et pourquoi la réputation est devenue un enjeu majeur dans l'industrie automobile.On parle de Toyota, Honda, Mazda, Subaru, Hyundai, Nissan, Ford, GM, Chrysler, Tesla et d'autres constructeurs présents dans l'étude. On revient aussi sur l'influence des médias, des réseaux sociaux, de l'image de marque, de l'expérience client et de la perception du public au Québec.Pourquoi certaines marques montent-elles dans l'opinion publique, alors que d'autres s'effondrent? Est-ce une question de fiabilité, de service, de marketing, de scandales, de politique, ou simplement de perception? Cette vidéo te donne un portrait clair, simple et direct de la réputation automobile au Québec en 2026.Abonne-toi à TORQ pour plus d'analyses sur l'actualité automobile, les marques, les trucks, les VUS, les voitures sport, les essais routiers et les grandes tendances de l'industrie auto au Québec et en Amérique du Nord.DÉBLOQUE LE CONTENU VIP :YouTube Membres VIP :https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/joinSpotify Membres VIP :https://podcasters.spotify.com/pod/show/torqpodcast/subscribeFAST WHEELShttps://fastco.ca/Fast-Wheels/HomeASSURAGOhttps://www.assurago.ca/ #AutomobileQuebec #Torq #Media

Ford confirme le nouveau F-150 : grosse surprise pour 2029 ?TORQ – Épisode 559Ford a confirmé que le prochain Ford F-150 de nouvelle génération arrivera d'ici 2029, et ça soulève déjà beaucoup de questions. Dans cette vidéo TORQ, on passe en revue toutes les informations, rumeurs et analyses autour du futur F-150 2029 : date de lancement possible, changements attendus, nouvelles technologies, électrification, versions hybrides, F-150 Lightning, design, capacités, et ce que ça pourrait vouloir dire pour les amateurs de pickup pleine grandeur.Est-ce que Ford prépare une vraie révolution pour son camion le plus important, ou simplement une évolution du F-150 actuel? Est-ce qu'on doit s'attendre à plus de technologie, plus d'électrification, un nouveau style, ou même des changements majeurs dans la façon dont le F-150 est conçu?Dans cette vidéo, je vous donne mon analyse claire et directe sur ce que Ford pourrait préparer avec le F-150 2029, en tenant compte des infos officielles et des rumeurs les plus crédibles qui circulent actuellement.Abonne-toi à TORQ pour plus de contenu sur les pickup, camions, VUS, nouveautés automobiles, industrie auto, Ford, GM, Ram, Toyota, Honda, Nissan, et toute l'actualité automobile vue d'ici.DÉBLOQUE LE CONTENU VIP :YouTube Membres VIP :https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/joinSpotify Membres VIP :https://podcasters.spotify.com/pod/show/torqpodcast/subscribeFAST WHEELShttps://fastco.ca/Fast-Wheels/HomeASSURAGOhttps://www.assurago.ca/ #Pickup #FordF150 #Ford

What is Deja Vu, where does it come from and why do we get it? Deja Vu researchers Dr. Christopher Moulin and Dr. Akira O'Connor have spent their lives trying to answer those questions. In this episode of Profoundly Pointless we look at the latest science surrounding Deja Vu, Jamais Vu and memory. We talk what causes Deja Vu and Jamais Vu, if Deja Vu is connected to past lives and how different types of Vus explains our lives. Then, it's Darth Vader and Scarface against Thanos and Anton Chigurh as we countdown the Top 5 Movie Villain Quotes. 00:00: Introducing Dr. Christopher Moulin and Dr. Akira O'Connor 01:17: What is Deja Vu 02:00: What's Happening During Deja Vu 05:01: How Long Does Deja Vu Last 06:18: How Deja Vu Helps Us 07:28: Jamais Vu Explained 13:29: Other Types of Vus 15:31: Deja Vu and Past Lives 19:10: Pointless 30:11: Top 5 Movie Villain Quotes Learn more about your ad choices. Visit megaphone.fm/adchoices

Nissan élimine 11 modèles… mais le Xterra et la Skyline reviennent ?TORQ – Épisode 556Nissan est en train de faire un énorme ménage dans sa gamme mondiale. Dans cet épisode de TORQ, on parle de la décision de Nissan d'éliminer 11 modèles, de ce que ça pourrait vouloir dire pour l'avenir de la marque, et surtout des nouveaux véhicules qui commencent déjà à faire réagir.On revient sur les rumeurs et indices entourant le retour possible du Nissan Xterra, du Skyline, ainsi que sur la nouvelle direction produit de Nissan et Infiniti. Est-ce qu'on assiste enfin à un vrai recentrage stratégique, ou simplement à une marque qui coupe parce qu'elle n'a plus le choix?On jase aussi du look des nouveaux modèles, du positionnement futur de Nissan, d'Infiniti, et de ce que ces changements pourraient signifier pour les amateurs de VUS, de performance et de véhicules japonais.Penses-tu que Nissan prend enfin les bonnes décisions?Le retour du Xterra t'intéresse plus que celui du Skyline?Dis-moi ça en commentaire.Abonne-toi à TORQ pour plus d'analyses, d'actualités automobiles et d'opinions franches sur l'industrie auto.DÉBLOQUE LE CONTENU VIP :YouTube Membres VIP :https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/joinSpotify Membres VIP :https://podcasters.spotify.com/pod/show/torqpodcast/subscribeFAST WHEELShttps://fastco.ca/Fast-Wheels/HomeASSURAGOhttps://www.assurago.ca/ #Nissan #Xterra #Skyline

In this episode of Liver Lineup, hosts Nancy Reau, MD, and Kimberly Brown, MD, are joined by Saul Karpen, MD, PhD, and Robert Gish, MD, for a practical, clinician-focused discussion on the evolving role of genetic testing in cholestatic liver disease.As genetic panels become more widely used in hepatology, many clinicians are left wondering when to order these tests—and how to interpret the results when they come back. From unexplained cholestasis and AMA-negative PBC to intrahepatic cholestasis of pregnancy and atypical liver enzyme patterns, the conversation explores where genetic testing can add real clinical value.Karpen and Gish break down the basics of modern genetic panels, including how they've evolved over time, what clinicians should look for in results, and how to approach common challenges like variants of uncertain significance (VUS). The discussion also highlights key genes, such as ABCB4 and ABCB11, and explains how genetic findings can influence diagnosis, risk assessment, and treatment decisions.Read more: https://www.hcplive.com/view/liver-lineup-navigating-genetic-testing-in-cholestatic-liver-disease

Hyundai attaque enfin le Bronco et le Wrangler ?!TORQ - Épisode 551Dans cette épisode de TORQ, on parle du Hyundai Boulder Concept, la grosse surprise de Hyundai au Salon de New York 2026. Contrairement à ce que certains pourraient penser, ce n'est pas un pickup, mais bien un VUS off-road qui vise clairement le territoire du Jeep Wrangler et du Ford Bronco. Hyundai présente aussi avec ce concept sa première architecture body-on-frame, ce qui marque un gros changement de direction pour la marque.On décortique ensemble le design, le positionnement, le message derrière ce concept, et surtout la vraie question : est-ce que Hyundai peut vraiment devenir crédible dans le monde du 4x4 sérieux? Parce qu'une chose est sûre, le look frappe fort, mais pour l'instant Hyundai n'a toujours pas confirmé les vraies specs mécaniques du Boulder.Dis-moi en commentaire :Est-ce que le Hyundai Boulder a ce qu'il faut pour rivaliser avec le Bronco et le Wrangler?DÉBLOQUEZ LE CONTENU VIP : YOUTUBE Membres VIP :https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/joinSpotify Membres VIP :https://podcasters.spotify.com/pod/show/torqpodcast/subscribeFAST WHEELS https://fastco.ca/Fast-Wheels/HomeASSURAGOhttps://www.assurago.ca/#JeepWrangler #HyundaiBoulder #Bronco

Autoinflammatory diseases are often considered rare — but, in clinical practice, they may be far more common than we think. In this episode of Around the Rheum, hosts Dr. Daniel Ennis and Dr. Janet Pope speak with Dr. Jason An, a Toronto rheumatologist with expertise in autoinflammatory disorders.Together, they explore how these conditions differ from classic autoimmune disease, why adult rheumatologists should be thinking about them more often, and how to approach diagnosis when the presentation doesn't fit neatly into familiar categories.Dr. An also shares practical strategies for recognizing autoinflammatory patterns, interpreting genetic testing, and using targeted therapies both diagnostically and therapeutically.In this episode we discuss:The evolving definition of autoinflammatory disease and how it differs from autoimmune diseaseWhy these disorders are not just pediatric diseases and may present in adulthoodA practical cytokine-based framework for classifying autoinflammatory diseasesThe four major inflammatory “buckets”:IL-1–mediated diseasesIL-18-mediated diseasesTNF / NF-κB pathway disordersInterferonopathiesClinical pattern recognition in patients with recurrent fevers and systemic inflammationThe role and limitations of genetic testing in autoinflammatory diseaseWhy variants of uncertain significance (VUS) may still be clinically meaningful in adultsUsing targeted therapies as diagnostic tools (colchicine, IL-1 blockade, JAK inhibitors)When rheumatologists should consider referral to an autoinflammatory disease specialistRecommended reading:Dr. An's review on autoinflammatory diseases in The Journal of Rheumatology:https://www.jrheum.org/content/51/9/848Dr. Jason An, MD, MSc is an adult rheumatologist specializing in the diagnosis and treatment of autoinflammatory diseases who works in community practice in the Greater Toronto Area (GTA)Around The Rheum is produced by the CRA Communications Committee. A special thank you to the podcast team, Dr. Dax G. Rumsey (CRA Communications Committee Chair), Dr. Daniel Ennis (Host), Dr. Janet Pope (Host) David McGuffin (exploreproductions.ca), and Erin Stewart (CRA) for leading production.Our theme music was composed by Aaron Fontwell.For more on the work of the Canadian Rheumatology Association, visit rheum.ca

Martin a appris une mauvaise nouvelle à Rémi ce matin… Mike s’en va dans la tête de Kim… pis ça va vite! As-tu déjà gâché une surprise sans le vouloir? Mister fun : Surévalué ou sous-évalué : Le compte en banque de Luc Poirier? La rockstar du jour : Roxette Les débateurs : L’explosion des ventes des VUS et pick-up au Québec… Le mashup : QUAND ALEX WARREN ET JELLY ROLL RENCONTRE DAFT PUNK ET RHYTHM IS A DANCER ET…. LA DÉRAPE DE L’ÉQUIPE UN PEU PLUS TÔT!! Spécial K : Comment Kim s’est fait écoeurer sur ses seins au secondaire? Rémipédia : L’histoire tragique de Blanche Monnier.

In this episode we are talking about uncertainty and risk along with patient preferences for communication. Segment 1: The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review Shanice Allen is a PhD student from the Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield. The aim of her research is exploring the attitudes and experiences of individuals with or at-risk of genetic MND on reproductive genetic testing, and explore how and if clinicians discuss these options with these individuals. This will help us identify any barriers to accessing reproductive services. LinkedIn: https://www.linkedin.com/in/shanice-allen-9a89661a5/   In this segment we discuss: - The attitudes toward reproductive genetic testing in adult-onset genetic conditions. - Experiential knowledge and perceived disease severity in shaping reproductive decision-making. - Ethical themes including guilt, eugenics, and concerns about pregnancy termination. - Findings supporting more tailored, longitudinal genetic counseling approaches.   Segment 2: Assessing patient communication preferences for reclassified variants of uncertain significance in a general genetics clinic Eden Brush, MS, CGC is a pediatric and inpatient genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center. She completed her graduate training at Columbia University as part of the class of 2024. She is passionate about rare disease advocacy, narrative medicine, and disability justice.   In this segment we discuss: - Patient communication preferences for reclassified variants of uncertain significance (VUS) and patient-driven practice insights - Factors that emphasize the utility of shared responsibility, the need for standardized recontact systems, and the importance of equity-focused implementation strategies. - How VUS reclassification type impacted patient-preferred disclosure methods.    Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Stephanie Schofield.

durée : 00:58:55 - Le 13/14 - Comment la commune des Ponts-de-Cé, près d'Angers, s'organise pour faire face à une montée des eaux historique ? Nous en discutons en direct avec quatre invités, le maire Jean Paul Pavillon, la ministre Françoise Gatel, le dessinateur Etienne Davodeau, et la chargée de mission Virginie Gaspari. Vous aimez ce podcast ? Pour écouter tous les autres épisodes sans limite, rendez-vous sur Radio France.

durée : 00:35:17 - L'invité du 13/14 - par : Jérôme CADET - Comment la commune des Ponts-de-Cé, près d'Angers, s'organise pour faire face à une montée des eaux historique ? Nous en discutons en direct avec quatre invités, le maire Jean Paul Pavillon, la ministre Françoise Gatel, le dessinateur Etienne Davodeau, et la chargée de mission Virginie Gaspari. Vous aimez ce podcast ? Pour écouter tous les autres épisodes sans limite, rendez-vous sur Radio France.

Écoutez le meilleur de La commission du 11 février 2026: Préférez-vous conduire un VUS ou une voiture compacte? Négociations FMSQ: l'impasse monétaire et le spectre des moyens d'action; Les jeunes s’informent de plus en plus sur les réseaux sociaux; Une médaille pour les patineurs canadiens. Voir https://www.cogecomedia.com/vie-privee pour notre politique de vie privée

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.

Quant franc essas Vus che la lavur che Vus faschais na vegn in di betg surpigliada d'insatgi u meglier ditg d'insatge auter? Pertge tuttina sco l'informatica e la digitalisaziun ils ultims decennis fulla il mument era l'intelligenza artifiziala sia via en noss mund da lavur. Ella avanza pass per pass en ils pli differents champs e surpiglia adina dapli chaussas che nus umans faschevan avant. E quai va davent da sortir chaussas, racoltar e servir en in'ustaria fin a programmar, far translaziuns en las pli differentas linguas, scriver cudeschs u era far musica e films. Procura l'intelligenza artifiziala che nus essan in di forsa tuttas e tuts dischoccupads, perquai ch'i na dovra betg pli nus? U vegnin nus simplamain a far en il futur autras lavurs che l'IA na vegn betg da far? La «Marella» emprova da dar ina u l'autra resposta a questas dumondas prest existenzialas.

Fernand Cuville, Jeune italienne, Vicence, 1918 (c) Archives de la planète Vus de Sirius, les êtres humains sont certainement analogues les uns aux autres. Mais pour nous qui en sommes, pour qui l’unité fondamentale est tellement évidente qu’on n’y prête plus attention et qui avons, de plus, appris à décrypter, avec une extraordinaire acuité, le moindre détail des traits permettant de distinguer un être humain d’un autre, c’est la diversité, la magnifique diversité qui l’emporte. Et pourtant, comment ne pas voir, derrière la variété des photographies et films des Archives de la planète, rassemblés entre 1908 et 1931 sous la direction d’Albert Kahn ; comment ne pas voir un grand album de famille reproduisant les mille facettes de notre humanité commune, un grand album où se dissout la distinction traditionnelle entre anthropologie et ethnologie ? Dans le rassemblement, la conjonction, la juxtaposition de ces dizaines de milliers d’images fixes et animées captées un peu partout dans le monde, on perçoit qu’il n’y a pas, d’un côté, l’unité de l’espèce, et, de l’autre, sa diversité. Le trait fondamental d’homo sapiens, de cet homo parmi les autres ayant progressivement pris la place des autres homo, c’est son incroyable plasticité, sa capacité à se modeler, à adopter des rites, des coutumes, des croyances, des vêtements, des façons indéfiniment différentes d’être au monde pour s’adapter à la diversité des lieux, des climats, des écosystèmes où il a choisi de s’établir, de s’enraciner puis de se perpétuer avant de partir, éventuellement, ailleurs puis ailleurs encore. Son unité, son identité la plus profonde, c’est justement sa faculté d’adaptation et la diversité par laquelle elle se traduit. Et pourtant, quand on regarde les visages, les visages souvent magnifiques de ces femmes et de ces hommes depuis longtemps rendus à la poussière, ces visages qui à la demande du photographe regardaient l’objectif et nous regardent donc, leurs yeux plongés au plus profond des nôtres, quelle proximité et quelle émotion ! De quelque pays qu’ils soient, quel que soit l’âge, le costume et la majesté, c’est toujours un frère ou une soeur, un proche qui nous tend son regard comme un miroir, et de ses yeux nous interroge. Ils sont si différents et cependant si identiques avec leur sourire, leur gêne, leur fierté, leur lassitude, leur joie ou leur indifférence. Quels que soient leurs atours, leurs décorations, leurs bijoux, le panache de leur pose ou de leurs habits, ils sont finalement si transparents, si nus, si faibles, si peu de chose, si déjà disparus. Et si touchants, cependant, d’être là et de se prêter, de se donner en spectacle. Je ne reviens pas, je ne reviens jamais de l’émotion qui me transporte à la vue de mes semblables, de ces êtres qui se savent si petits et si fragiles et qui pourtant, au même moment, se tiennent dignes, radieux et pleins d’espoir face à la vie. Je me demande s’il n’y a pas, là aussi, une définition de l’humanité. Le musée départemental Albert Kahn, récemment refait, est à Boulogne-Billancourt, près d’une boucle de la Seine, sur le site de la propriété d’Albert Kahn. Outre les collections de photographies et de films, on y trouve un jardin, d’une exceptionnelle beauté. L‘image d’illustration a été prise par Fernand Cuville en 1918. On y voit une jeune fille photographiée à Vicence, en Italie. Pas d’autre détail. L’original est un autochrome sur plaque de verre. Elle porte le numéro d’inventaire A 19 398. En illustration musicale, Bayaty, de George Gurdjieff, dans la très jolie version d’Anja Lechner et Vassilis Tsabropoulos, parce que Gurdjieff sut si bien, lui aussi, illustrer, au moins dans son œuvre musicale, l’unité dans la diversité. Cet article Album de famille : le musée Albert Kahn est apparu en premier sur Aldor (le blog).

Dévoilement du Kia Seltos 2027 Le Volvo EX90 quitte le Canada, l’EX30 coupe son prix Un rabais de 15 000 $ pour le Ford Mustang Mach-E Mercedes-Benz GLB 2027 : désormais deux VUS en un Antoine tu peux nous parler de ton périple chez Toyota? Pour de l'information concernant l'utilisation de vos données personnelles - https://omnystudio.com/policies/listener/fr

En actualité : Dévoilement du Kia Seltos 2027 Le Volvo EX90 quitte le Canada, l’EX30 coupe son prix Un rabais de 15 000 $ pour le Ford Mustang Mach-E Mercedes-Benz GLB 2027 : désormais deux VUS en un Antoine tu peux nous parler de ton périple chez Toyota? Cette semaine, Hugues Gonnot nous parle de la Lincoln Continental. Le Guide de l'auto reçoit Terry "Zeke" Maxwell, président et fondateur de SLP Canada. Cette firme montréalaise a été responsable de modifier les Chevrolet Camaro et Pontiac Firebird qui sortaient de l'usine de Boisbriand dans les années 1990. M. Maxwell nous parle de son cheminement, et de son livre récemment publié qui retrace les moments forts de l'entreprise. Louis-Philippe Dubé et Antoine Joubert partagent leurs impressions de conduite au sujet de la Kia EV4 et du Nissan Rogue PHEV.Pour de l'information concernant l'utilisation de vos données personnelles - https://omnystudio.com/policies/listener/fr

Les avez-vous vu (ou vuS) se disputer ? Les avez-vous vus (ou vu) s'embrasser ? L'avez vous vu (ou vue) frapper à la porte ? Ce diable de participe passé à la française rend chèvres les auditeurs de RTL. Heureusement, Muriel Gilbert vient à la rescousse !Hébergé par Audiomeans. Visitez audiomeans.fr/politique-de-confidentialite pour plus d'informations.

Nouveau Honda Pilot 2026 – Plus techno, même V6 : bonne ou mauvaise idée ?TORQ - Épisode 495HONDA PILOT 2026 – beaucoup d'améliorations… mais la mécanique ne bouge pas. Est-ce que Honda joue trop safe ?Aujourd'hui, on regarde de près le nouveau Honda Pilot 2026 :• nouvelle face avant plus massive• écran 12,3'' de série (!), tableau de bord numérique 10,2''• plus d'équipement sur chaque version• plus d'isolant, plus de techno, look retouché… mais toujours le même V6 atmosphérique de 285 chevaux, dans un marché où tout le monde pousse le turbo ou l'hybride.Dans cette vidéo, on analyse :

Le retour d’Allô Police : les vedettes du crime au Québec. Décès du nouveau-né à Longueuil: les derniers développements. Vers une année sombre pour les motocyclistes. Incendie criminel d’un VUS à Montréal. Tour de table entre Isabelle Perron, Alexandre Dubé et Mario Dumont. Regardez aussi cette discussion en vidéo via https://www.qub.ca/videos ou en vous abonnant à QUB télé : https://www.tvaplus.ca/qub ou sur la chaîne YouTube QUB https://www.youtube.com/@qub_radioPour de l'information concernant l'utilisation de vos données personnelles - https://omnystudio.com/policies/listener/fr

Limb-girdle muscular dystrophies (LGMDs) encompass a group of genetically heterogeneous skeletal muscle disorders. There has been an explosion of newly identified LGMD subtypes in the past decade, and results from preclinical studies and early-stage clinical trials of genetic therapies are promising for future disease-specific treatments. In this episode, Gordon Smith, MD, FAAN, speaks with Teerin Liewluck, MD, FAAN, FANA, author of the article “Limb-Girdle Muscular Dystrophies” in the Continuum® October 2025 Muscle and Neuromuscular Junction Disorders issue. Dr. Smith is a Continuum® Audio interviewer and a professor and chair of neurology at Kenneth and Dianne Wright Distinguished Chair in Clinical and Translational Research at Virginia Commonwealth University in Richmond, Virginia. Dr. Liewluck is a professor of neurology at the Division of Neuromuscular Medicine and Muscle Pathology Laboratory at Mayo Clinic College of Medicine in Rochester, Minnesota. Additional Resources Read the article: Limb-Girdle Muscular Dystrophies Subscribe to Continuum®: shop.lww.com/Continuum Earn CME (available only to AAN members): continpub.com/AudioCME Continuum® Aloud (verbatim audio-book style recordings of articles available only to Continuum® subscribers): continpub.com/Aloud More about the American Academy of Neurology: aan.com Social Media facebook.com/continuumcme @ContinuumAAN Host: @gordonsmithMD Guest: @TLiewluck Full episode transcript available here Dr Jones: This is Dr Lyell Jones, Editor-in-Chief of Continuum. Thank you for listening to Continuum Audio. Be sure to visit the links in the episode notes for information about earning CME, subscribing to the journal, and exclusive access to interviews not featured on the podcast. Dr Smith: This is Dr Gordon Smith with Continuum Audio. Today I'm interviewing Dr Teerin Liewluck, a good friend of mine at the Mayo Clinic, about his article on the limb girdle muscular dystrophies. This article appears in the October 2025 Continuum issue on muscle and neuromuscular junction disorders, a topic that is near and dear to my heart. Teerin, welcome to the podcast, and maybe you can introduce yourself to our listeners. Dr Liewluck: Thank you very much, Gordon, and I want to say hi to all the Continuum fans. So, I'm Dr Teerin Liewluck, I'm the professor of neurology at Mayo Clinic in Rochester, Minnesota. So, my practice focus on all aspects of muscle diseases, both acquired and genetic myopathies. Glad to be here. Dr Smith: I just had the great pleasure of seeing you at a seminar in Houston where you talked about this topic. And so, I'm really primed for this conversation, which I'm very excited about. I find this topic a little hard, and I'm hoping I can learn more from you. And I wonder if, as we get started, recognizing many of our listeners are not in practices focused purely on muscle disease, maybe you can provide some context about why this is important for folks doing general neurology or even general neuromuscular medicine? Why do they need to know about this? Dr Liewluck: Yes, certainly. So, I would say limb girdle muscular dystrophy probably the most complex category of subgroup of muscle diseases because, by itself, it includes thirty-four different subtypes, and the number's still expanding. So, each subtype is very rare. But if you group together, it really have significant number of patients, and these patients present with proximal weakness, very high CK, and these are common patients that can show up in the neurology clinic. So, I think it's very important even for general neurologists to pick up what subtle clues that may lead to the diagnosis because if we are able to provide correct diagnosis for the patients, that's very important for patient management. Dr Smith: So, I wonder if maybe we can talk a little bit about the phenotype, Terran. I mean, your article does a great job of going over the great diversity. And you know, I think many of us here, you know, limb girdle muscular dystrophy and we think of limb girdle weakness, but the phenotypic spectrum is bananas, right? Rhabdomyolysis, limb girdle distal myopathy. I mean, when should our listeners suspect LGMD? Dr Liewluck: Yes, I think by the definition to all the LGMD patients will have limb girdle of proximal weakness and very high CK. So, these are common phenotypes among thirty-four different subtypes. But if it did take into details, they have some subtle differences. In the article, what I try to simplify all these different subtypes that we can categorize at least half of them into three main group that each group the underlying defect sharing among those subtypes and also translate into similar muscles and extra muscular manifestations. You will learn that some of the limb girdle muscular dystrophy may present with rhabdomyolysis. And we typically think of this as metabolic myopathies. But if you have a rhabdomyolysis patient, the CK remain elevated even after the acute episode, that's the key that we need to think this could be LGMD. That's for an example. Dr Smith: So, I wonder if maybe we can start there. I was going to go in a different direction, but this is a good transition. It's easy to see the opportunity to get confused between LGMD or, in that case, a metabolic myopathy or other acquired myopathies. And I think particularly adult neurologists are more accustomed to seeing acquired muscle disease. Are there particular clues that, or pearls that adult neurologists seeing patients with muscle disease can use to recognize when they should be thinking about LGMD given the diverse phenotype? Dr Liewluck: Yes. What I always tell the patient is that there are more than a hundred different types of muscle diseases, but we can easily divide into groups: acquired and genetic or hereditary. So, the acquired disease is when you encounter the patients who present with acute or subacute cause of the weakness, relatively rapidly progressive. But on the opposite, if you encounter the patient who present with a much more slowly progressive cause of weakness over several months or years, you may need to think about genetic disease of the muscle with also including limb-girdle muscular dystrophy. The detailed exam to be able to distinguish between each type of muscular dystrophy. For example, if proximal weakness, certainly limb girdle muscular dystrophy. If a patient has facial weakness, scapular winking, so you would think about facial scapular hematoma dystrophy. So, the slowly progressive cause of weakness, proximal pattern of weakness, CK elevation, should be the point when you think about LGMD. Dr Smith: So, I have a question about diagnostic evaluation. I had a meeting with one of my colleagues, Qihua Fan, who's a great peripheral nerve expert, who also does neuromuscular pathology. And we were talking about how the pathology field has changed so much over the last ten years, and we're doing obviously fewer muscle biopsies. Our way of diagnosing them has changed a lot with the evolution of genetic testing. What's your diagnostic approach? Do you go right to genetic testing? Do you do targeted testing based on phenotype? What words of wisdom do you have there? Dr Liewluck: Yes, so, I mean, being a muscle pathologist myself, it is fair to say that the utility of muscle biopsies when you encounter a patient with suspects that limb girdle muscular dystrophy have reduced over the year. For example, we used to have like fifteen, seventeen hundred muscle biopsies a year; now we do only thirteen hundred biopsies a year. Yes, as you pointed out, the first step in my practice if I suspect LGMD is to go with genetic testing. And I would prefer the last gene panel that not only include the LGMD, but also include all other genetic muscle disease as well as the conjunctive myopic syndrome, because the phenotype can be somehow difficult to distinguish in certain patients. Dr Smith: So, do you ever get a muscle biopsy, Teerin? I mean you obviously do; only thirteen hundred. Holy cow, that's a lot. So, let me reframe my question. When do you get a muscle biopsy in these patients? Dr Liewluck: Muscle biopsy still is present in LGMD patients, it's just we don't use it at the first-tier diagnostic test anymore. So, we typically do it in selected cases after the genetic testing in those that came back inconclusive. As you know, you may run into the variant of unknown significance. You may use the muscle biopsy to see, is there any histopathology or abnormal protein Western blot that may further support the heterogenicity of the VUS. So, we still do it, but it typically comes after genetic testing and only in the selected cases that have inconclusive results or negative genetic testing. Dr Smith: I'd like to ask a question regarding serologic testing for autoantibodies. I refer to a really great case in your article. There are several of them, but this is a patient, a FKRP patient, who was originally thought to have dermatomyositis based on a low-titer ME2 antibody. You guys figured out the correct diagnosis. We send a lot of antibody panels out. Wonder if you have any wisdom, pearls, pitfalls, for how to interpret antibody tests in patients with chronic myopathies? We send a lot of them. And that's the sort of population where we need to be thinking about limb-girdle muscular dystrophies. It's a great case for those, which I hope is everyone who read your article in detail. What do you have to say about that? Dr Liewluck: Yes, so myositis antibodies, we already revolutionized a few of muscle diseases. I recall when I finished my fellowship thirteen years ago, so we don't really have much muscle myositis antibodies to check. But now the panel is expanded. But again, the antibodies alone cannot lead to diagnosis. You need to go back to your clinical. You need to make sure the clinical antibodies findings are matched. For example, if the key that- if the myocytes specific antibodies present only at the low positive title, it's more often to be false positive. So, you need to look carefully back in the patient, the group of phenotypes, and when in doubt we need to do muscle biopsies. Now on the opposite end, the other group of the antibody is the one for necrotizing autoimmune myopathy; or, the other name, immune-mediated necrotizing myopathy. This is the new group that we have learned only just recently that some patients may present as a typical presentation. I mean, when even thinking about the whole testing autoimmune myopathy, we think about those that present with some acute rapidly progressive weakness, maybe has history of sudden exposures. But we have some patients that present with very slowly progressive weakness like muscular dystrophies. So now in my practice, if I encounter a patient I suspect LGMD, in addition to doing genetic testing for LGMD, I also test for necrotizing doing with myopathy antibodies at the same time. And we typically get antibody back within what, a week or two, but projected testing would take a few months. Dr Smith: Yeah. And I guess maybe you could talk a little bit about pitfalls and interpretation of genetic tests, right? I think you have another case in your article, and I've certainly seen this, where a patient is misdiagnosed as having a genetic myopathy, LGMD, based on, let's say, just a misinterpretation of the genetic testing, right? So, I think we need to think of it on both sides. And I like the fact that the clinical aspects of diagnosis really are first and foremost most important. But maybe you can talk about wisdom in terms of interpretation of the genetic panel?  Dr Liewluck:Yes. So genetic testing, I think, is a complex issue, particularly for interpretation. And if you're not familiar with this, it's probably best to have your colleagues in genetics that help looking at this together. So, I think the common scenario we encounter is that in those dystrophies that are autosomal recessive, so we expect that the patient needs to have two abnormal copies of the genes to cause the disease. And if patients have only one abnormal copy, they are just a carrier. And commonly we see patients refer to us as much as dystrophy is by having only one abnormal copy. If they are a carrier, they should not have the weakness from that gene abnormality. So, this would be the principle that we really need to adhere. And if you run into those cases, then maybe you need to broaden your differential diagnosis. Dr Smith: I want to go back to the clinical phenomenology, and I've got a admission to make to you, Teerin. And I find it really hard to keep track of these disorders at, you know, thirty-four and climbing a lot of overlap, and it's hard to remember them. And I'm glad that I'm now going to have a Continuum article I can go to and look at the really great tables to sort things out. I'm curious whether you have all these top of mind? Do you have to look at the table too? And how should people who are seeing these patients organize their thoughts about it? I mean, is it important that you memorize all thirty-four plus disorders? How can you group them? What's your overall approach to that? Dr Liewluck: I need to admit that I've not memorize all twenty-four different subtypes, but I think what I triy to do even in my real-life practice is group it all together if you can. For example, I think that the biggest group of these LGMD is what we call alpha-dystroglycanopathies. So, this include already ten different subtypes of recessive LGMD. So alpha-dystroglycan is the core of the dystrophin-associated glycoprotein complex. And it's heavy glycosylated protein. So, the effect in ten different genes can affect the glycosylation or the process of adding sugar chain to this alpha-dystroglycan. And they have similar features in terms of the phenotype. They present with proximal weakness, calf pseudohypertrophy, very high CK, some may have recurrent rhabdomyolysis, and cardiac and rhythmic involvement are very common. This is one major group. Now the second group is the limb-girdle muscular dystrophy due to defective membrane repair, which includes two subtypes is the different and on dopamine five. The common feature in this group is that the weakness can be asymmetric and despite proximal weakness, they can have calf atrophy. On muscle biopsy sometimes you can see a myeloid on the muscle tissues. And the third group is the sarcoglycanopathy, which includes four different subtypes, and the presentation can look like we share. For the rest, sometimes go back to the table. Dr Smith: Thank you for that. And it prompts another question that I always wonder about. Do you have any theories about why such variability in the muscle groups that are involved? I mean, you just brought up dystroglycanopathy, for instance, as something that can cause a very distal predominant myopathy; others do not. Do we at this point now have an understanding given the better genetics that we have on this and work going on in therapeutic development, which I want to get to in a minute, that provides any insight why certain muscle groups are more affected? Dr Liewluck: Very good question, Gordon. And I would say the first question that led me interested in muscle disease---and this happened probably back in 2000 when I just finished medical school---is why, why, why? Why does muscle disease tend to affect proximal muscles? I thought by now, twenty-five years later, we'd have the answer. I don't. I think this, you don't know clearly why muscle diseases, some affect proximal, some affect distal. But the hypothesis is, and probably my personal hypothesis is, that maybe certain proteins may express more in certain muscles and that may affect different phenotypes. But, I mean, dysferlin has very good examples that can confuse us because some patients present with distal weakness, some patients present with proximal weakness, that's by the same gene defect. And in this patient, when we look at the MRI in detail, actually the patterns of fatty replacements in muscle are the same. Even patient who present clinically as a proximal or distal weakness, the imaging studies show the same finding. Bottom line, we don't know. Dr Smith: Yeah, who knew it could be so complex? Teerin, you brought up a really great point that I wanted to ask about, which is muscle MRI scan, right? We're now seeing studies that are doing very broad MR imaging. Do you use some muscle MRI very frequently in your clinical evaluation of these patients? And if so, how? Dr Liewluck: Maybe I don't use it as much as I could, but the most common scenario I use in this setting is when I have the genetic testing come back with the VUS. So, we look at each VUS, each gene in detail. And if anything is suspicious, what I do typically go back to the literature to see if that gene defect in particular has any common pattern of muscle involvement on the MRI. And if there is, I use MRI as one of the two to try to see if I can escalate the pathogenicity of that VUS. Dr Smith: And a VUS is a “Variant of Unknown Significance,” for our listeners. I'm proud that I remember that as a geneticist. These are exciting times in neurology in general, but particularly in an inherited muscle disease. And we're seeing a lot of therapeutic development, a lot going on in Duchenne now. What's the latest in terms of disease-modifying therapeutics and gene therapies in LGMD? Dr Liewluck: Yes. So, there are several precritical and early-phase critical trials for gene therapy for the common lymphoma of muscular dystrophies. For example, the sarcoglycanopathies, and they also have some biochemical therapy that arepossible for the LGMD to FKRP. But there are many things that I expect probably will come into the picture broader or later phase of critical tryouts, and hopefully we have something to offer for the patients similar to patients with Duchenne muscular dystrophy. Dr Smith: What haven't we talked about, I mean, holy cow? There's so much in your article. What's one thing we haven't talked about that our listeners need to hear? Dr Liewluck: Good questions. So, I think we covered all, but often we get patients with proximal weakness and high CK, and they all got labeled as having limb-girdlemuscular dystrophy. What I want to stress is that proximal weakness and high CK is a common feature for muscle diseases, so they need to think broad, need to think about all possibilities. Particularly don't want to miss something treatable. Chronic, slowly progressive cause, as I mentioned earlier, we think more about muscle dystrophy, but at the cranial range, we know that rare patients with necrotic autonomyopathy and present with limb good of weakness at a slowly progressive cost. So, make sure you think about these two when suspecting that LGMD patient diabetic testing has come back inconclusive. Dr Smith: Well, that's very helpful. And fortunately, there's several other articles in this issue of Continuum that help people think through this issue more broadly. Teerin, you certainly don't disappoint. I enjoyed listening to you about a month ago, and I enjoyed reading your article a great deal and enjoy talking to you even more. Thank you very much. Dr Liewluck: Thank you very much, Gordon. Dr Smith: Again, today I've been interviewing Dr Teerin Liewluck about his article on limb-girdle muscular dystrophy, which appears in the October 2025 Continuum issue on muscle and neuromuscular junction disorders. Please be sure to check out Continuum Audio episodes for this and other issues. And thanks to our listeners for joining today. Dr Monteith: This is Dr Teshamae Monteith, Associate Editor of Continuum Audio. If you've enjoyed this episode, you'll love the journal, which is full of in-depth and clinically relevant information important for neurology practitioners. Use the link in the episode notes to learn more and subscribe. AAN members, you can get CME for listening to this interview by completing the evaluation at continpub.com/audioCME. Thank you for listening to Continuum Audio.

Tge schessas Vus, sch'i naschiss quest onn sulet in uffant en Vossa vischnanca? E quai suenter che l'onn avant èn er be trais naschids. Cunzunt sche Vus sa regurdais anc vi dals onns ch'i deva mintg'onn anc 20 e dapli naschientschas cun be in zic dapli avdants ed avdantas. Als Tuatschins e Tuatschinas fa quai bain quitads ed han era ina tscherta tema, manegia l'anteriur scolast ed archivar communal Tarcisi Hendry ch'enconuscha anc fitg bain ils temps sco scolast dals onns 1970 cun gronds classas. Dentant Tujetsch n'è betg l'unica vischnanca en il Grischun che senta il regress d'uffants, il uschenumnà «baby-bust». L'onn passà hai dà uschè paucs uffants sco mai ils ultims 50 onns en il Grischun e la populaziun crescha il mument be pli pervia da la migraziun. Dentant quant alarmanta è la situaziun en il Grischun? Pertge faschain nus adina pli paucs pops e poppas? E tge munta quai per il chantun e las vischnancas? Respostas datti en la Marella.

What genetic tests actually do—and what they don't—so you know when to use them (and when not to). Practical next steps. Chapters below. For step-by-step guides + live Q&A, join the community: https://familybuilding.net/building-your-family-community/ You'll learn: Screening vs diagnostic: what each actually tells you Carrier testing, NIPT, and embryo testing (PGT‑A/M): when it helps vs overkill Limits: false positives/negatives, VUS, and context (why “a result” ≠ a decision) Donor gametes: brief considerations for donor sperm/egg Questions to ask your clinic + first steps this week

William Bouchard est venu parler du plus petit VUS de Hyundai: Le Hyundau Kona N LineSee omnystudio.com/listener for privacy information.

Sch'i va per scolar e cussegliar purs e puras, lura è il Plantahof a Landquart la dretga adressa en il Grischun. E dapi il favrer maina in Rumantsch quella veglia instituziun chantunala ch'è bler dapli che be ina scola. Dad esser in di directur dal Plantahof n'è bain mai stà ses siemi. Sco uffant fiss el pli gugent vegnì locomotivist. Dentant sco quai ch'igl è magari sin la via da la vita, prendan ins bain enqual storta fin ch'ins è là nua ch'ins è il mument. Uschia n'ha er l'agronom Pieder Vincenz betg mo lavurà per il chantun, mabain tranter auter er sco sviluppader regiunal da la Surselva, per il label da charn da la Migros, en il marketing da la ÖKK u er sin grondas farmas en la Nova Zelanda cun bun 10'000 nursas. E sche Vus vulais savair quant fitg ch'el po profitar da tut quellas experientschas professiunalas, tge ch'el fa insumma l'entir di sco directur dal Planthof, quant fitg ch'il velo gida el da chattar puspè la via e sch'el sa gia tut ils nums da ses passa 100 collavuraturs e collavuraturas, lura tadlai il «Profil».

TOP 10 des Véhicules les Plus Vendus au Canada en 2025TORQ - Épisode 452Dans cette vidéo, nous dévoilons le classement officiel des 10 véhicules les plus vendus au Canada en 2025. Que vous cherchiez votre prochain véhicule familial, un camion performant ou un VUS urbain, ce guide est fait pour vous. Nous analysons les modèles qui ont dominé le marché canadien, en expliquant les raisons de leur succès.   L'intégration de mots-clés est essentielle pour que votre vidéo apparaisse dans les résultats de recherche. Placez les termes principaux comme "véhicules les plus vendus Canada 2025" dans les premières phrases.   Nous aborderons les tendances clés, les surprises de ce classement et les critères d'achat pour vous aider à faire le meilleur choix en 2025. Vous découvrirez pourquoi certains modèles ont perdu leur place, et quels nouveaux concurrents sont en ascension.YOUTUBE Membres VIP :https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/joinSpotify Membres VIP :https://podcasters.spotify.com/pod/show/torqpodcast/subscribeTORQ MEDIASite Web : https://torqmedia.ca FAST WHEELS https://fastco.ca/Fast-Wheels/HomeONEBONE Site Web : https://onebonebrand.com/jultorqCode : JULTORQ ( - 15% Rabais )Suivez-Nous sur Instagram :@JulTorq : https://www.instagram.com/jultorq/@EveTorq : https://www.instagram.com/evetorq/#VehiculesLesPlusVendus #VoituresCanada2025 #Automobile

C'est la fin de la VRAIE Camaro... et c'est une abomination électrique ?TORQ - Épisode 451La fin d'une ère est-elle l'aube d'une abomination? La Chevrolet Camaro, icône du V8 et de la "muscle car" américaine, a tiré sa révérence après l'année modèle 2024. Mais la légende pourrait renaître en 2027, non pas en tant que coupé, mais en tant que VUS entièrement électrique. Pour les puristes, c'est une trahison, une décision honteuse qui "tente de vivre du nom" sans en respecter la tradition.   Dans cette vidéo, nous plongeons au cœur de la controverse. Le V8 est-il vraiment mort? Et surtout, pourquoi les fans estiment que l'électrification "souille" le nom de la Camaro, affirmant qu'il aurait été plus digne de "laisser le nom mourir dignement"? Nous analysons comment le poids des batteries déforme la silhouette classique de la muscle car, la rendant "plus haute, plus grasse", ce qui est à l'opposé de la philosophie de la performance.   Le précédent de la Ford Mustang Mach-E est sur toutes les lèvres. Bien que le Mach-E ait connu un succès commercial, son chemin a été semé d'embûches, notamment avec d'importants problèmes de fiabilité et un rappel de plus de 300 000 véhicules liés à son contacteur de batterie haute tension (HVBJB). Le VUS Camaro fera-t-il face aux mêmes "douleurs de croissance"?   Découvrez dans cette vidéo les raisons de cet outrage, les rumeurs de performances folles (jusqu'à 1000 ch pour une version ZL1?) et les risques d'une stratégie qui pourrait détruire l'héritage d'un nom légendaire. C'est le choc entre la passion et les impératifs du marché.   Quel est votre avis? Est-ce une trahison ou une évolution nécessaire? Laissez-nous vos commentaires ci-dessous et n'oubliez pas de vous abonner pour ne rien manquer de nos analyses automobiles!YOUTUBE Membres VIP :https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/joinSpotify Membres VIP :https://podcasters.spotify.com/pod/show/torqpodcast/subscribeTORQ MEDIASite Web : https://torqmedia.ca FAST WHEELS https://fastco.ca/Fast-Wheels/HomeONEBONE Site Web : https://onebonebrand.com/jultorqCode : JULTORQ ( - 15% Rabais )Suivez-Nous sur Instagram :@JulTorq : https://www.instagram.com/jultorq/@EveTorq : https://www.instagram.com/evetorq/#Camaro #ChevroletCamaro #musclecar

Un RAV4 Pickup Hybride ? Le Nouveau Concurrent du Ford Maverick !TORQ - Épisode 449L'industrie automobile est en ébullition et Toyota est sur le point de frapper un grand coup ! Dans cet épisode, j'explore la rumeur qui pourrait bien changer la donne sur le marché des camions compacts : l'arrivée imminente d'un Toyota RAV4 en version pickup pour affronter le très populaire Ford Maverick !Le Ford Maverick a prouvé qu'il y a un énorme marché pour les petits pickups hybrides. Toyota, maître de la technologie hybride, pourrait-il répondre à l'appel avec un RAV4 Pickup ? C'est le duel que tout le monde attend, et je vous donne toutes les informations et les spéculations que l'on a à ce jour !Dans cette vidéo, j'explore en détail :La Rumeur du RAV4 Pickup : Pourquoi les experts croient que Toyota prépare une version camion de son VUS le plus vendu.La Formule Hybride de Toyota : Si ce pickup voit le jour, il sera très probablement équipé de la technologie hybride du RAV4, ce qui le rendrait ultra-efficace et redoutable pour la concurrence.Le Duel RAV4 vs Maverick : Qui gagnera cette guerre des pickups compacts ? Je compare les forces et les faiblesses des deux géants.Les Possibilités pour le Québec : Pourquoi un pickup hybride comme le RAV4 Pickup serait le véhicule parfait pour le marché québécois.Mon Avis Final : Est-ce que cette idée est un coup de génie ou une erreur ?Si vous êtes un amateur de pickups compacts, un fidèle de la marque Toyota ou si vous voulez simplement tout savoir sur ce duel au sommet, cette vidéo est un INCONTOURNABLE !Ne manquez pas mon analyse complète sur le duel à venir entre le Toyota RAV4 Pickup et le Ford Maverick. Dites-moi en commentaires : lequel choisiriez-vous ?YOUTUBE Membres VIP :⁠https://www.youtube.com/channel/UCbha0iHrKImRyDXbDNO-EJw/join⁠Spotify Membres VIP :⁠https://podcasters.spotify.com/pod/show/torqpodcast/subscribe⁠TORQ MEDIASite Web : https://torqmedia.ca FAST WHEELS https://fastco.ca/Fast-Wheels/HomeONEBONE Site Web : https://onebonebrand.com/jultorqCode : JULTORQ ( - 15% Rabais )#ToyotaStout #Rav4Pickup #Toyota

Send comments and feedbackWhat are variants of uncertain significance (VUS) in epilepsy genetic testing? How are they defined, and can those definitions change over time? Sharp Waves talks with Dr. Gemma Carvill as part of our genetic testing series.RESOURCESStandards for interpreting variants (American College of Medical Genetics)Gene ReviewsClinVarGeneMatcherGnomadClinGenILAE genetic literacy seriesEpiPred website for STXBP1 (developed by EpiMVP project - will be final by end of July)Think Genetics paper – genetic testing in South Africa projectLink to Sharp Waves episode on genetic testing in LMICs  Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.Let us know how we're doing: podcast@ilae.org.The International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Instagram, and LinkedIn.

durée : 01:18:28 - Les Nuits de France Culture - par : Antoine Dhulster - En 1994, pour "Les Nuits magnétiques", Simon Guibert demandait à des Européens ce que l'Europe représentait pour eux. - réalisation : Virginie Mourthé

Vus de Washington et Moscou, Ukrainiens et Européens sont des empêcheurs de faire la paix entre soi.Hébergé par Ausha. Visitez ausha.co/politique-de-confidentialite pour plus d'informations.

The Katherine Massey Book Club @ The C.O.W.S. hosts the 3rd study session on the late Dr. Maya Angelou's A Song Flung Up To Heaven. This is the 6th autobiography in her 7 book memoir series. We read books 1, I Know Why The Caged Bird Sings, and 4, The Heart of a Woman. Dr. Angelou now reigns as the only author to have three books read on the Katherine Massey Book Club. We're reading this book to hear Dr. Angelou's depiction of the assassinations of Minister Malcolm X and Dr. Martin Luther King Jr. Last week, Dr. Angelou detailed the smells and sounds from her sightseeing tours through the 1965 Watts riots. Oddly, she laments the lack of attention she receives while everyone is focused on the smoldering ruins and shootin' and lootin'. With a reputation as a poet, not a historian, Dr. Angelou is scant on specific details about what's happening during the infamous SoCal battle. The late Wanda Coleman wrote that a few of Dr. Angelou's descriptions of the Watts kerfuffle are factually incorrect. Later, the Wake Forest scholar tells us that she and her "former husband" Vus, who is not named in this book, attempt to reconcile. It fails miserably, and they resume the same toxic, destructive arguments they had on a different continent. We noted that the daily consumption of alcoholic beverages is a theme in both Dr. Angelou memoirs we read this year. Including the infamous Mogen David's "Mad Dog 20/20" - which is a fortified wine that's been banned in parts of Seattle, Washington. #SobrietytWouldBeBest #TheCOWS16Years INVEST in The COWS – http://paypal.me/TheCOWS Cash App: https://cash.app/$TheCOWS CALL IN NUMBER: 605.313.5164 CODE: 564943#

durée : 00:03:19 - Le Billet de Daniel Morin - par : Daniel Morin - Ca fait cher pour un téléphone pas cher, non ?

durée : 00:03:19 - Le Billet de Daniel Morin - par : Daniel Morin - Ca fait cher pour un téléphone pas cher, non ?

The Katherine Massey Book Club @ The C.O.W.S. hosts the 8th and final study session on the late Dr. Maya Angelou's The Heart of A Woman. The acclaimed author, poet, rape victim and Victim of White Supremacy, Dr. Angelou penned a 7-book autobiography series on her life and work. This is book number 4 in the series. Gus T. was inundated with the life and literary work of Dr. Angelou during his recent Golden State sojourn. And it took Gus seeing the documentary film Soundtrack to a Coup d'État three times to accurately write down the title The Heart of a Woman. The extraordinary film on the assassination of Patrice Lumumba is "receipt-heavy," and Andrée Blouin and Dr. Angelou's respective memoirs are just 2 of the many books in the project. Last week, Dr. Angelou describes following her husband Vus to Africa without even an address or hotel reservation once she travels across the planet with her son, Guy. She and Vus have repeated conflicts about money and are nearing a second eviction. Dr. Angelou tells us she fell out of "love" with her care mate at this point. We heard about a lot more parties, dancing and liquor drinking. Dr. Angelou took time to make a distinction between she and the black people born in the United States as opposed to black people born in Africa. She incorrectly tells readers that "black Americans" were the last large group of people enslaved on the planet. Brazil kept black people in formal slavery until 1888, and there are millions more black people in the Portuguese-speaking country than the US. #ImGoinGetMeSomeStuffTonight #SoundtrackToACoupdÉtat #TheCOWS16Years INVEST in The COWS – http://paypal.me/TheCOWS Cash App: https://cash.app/$TheCOWS CALL IN NUMBER: 605.313.5164 CODE: 564943#

Between 5-10% of breast and 20-25% of ovarian cancers are inherited. The majority of hereditary breast and ovarian cancer cases are caused by deleterious mutations (variants) in the BRCA1 and BRCA2 genes, which normally prevent cancer through protecting and repairing our DNA. Genetic testing is used to identify pathogenic BRCA carriers who would subsequently benefit from personalized screening, preventative and management plans. However, its widespread implementation has resulted in a significant increase in findings of variants of uncertain significance (VUS) – DNA sequence variants with uncertain effects on disease risk. VUSs pose a critical clinical challenge as they limit clinicians' ability to effectively interpret genetic test results. For upcoming interviews check out the Grad Chat webpage on Queen’s University School of Graduate Studies & Postdoctoral Affairs website.

The Katherine Massey Book Club @ The C.O.W.S. hosts the 7th study session on the late Dr. Maya Angelou's The Heart of A Woman. This is a rare "double dip" for the book club, as we read I Know Why The Caged Bird Sings in the summer of 2014 just after the transition of the famed author and Wake Forest scholar. Gus T. was inundated with the life and literary work of Dr. Angelou during his recent Golden State sojourn. And it took Gus seeing the documentary film Soundtrack to a Coup d'État three times to accurately write down the title Heart of a Woman. The extraordinary film on the assassination of Patrice Lumumba is "receipt-heavy," and Andrée Blouin and Dr. Angelou's respective memoirs are just 2 of the many books in the project. Last week, Dr. Angelou describes her involvement in the White French convict Jean Genet's play, The Blacks: A Clown Show. This celebrated show featured a cast of renown black thespians and was shown around the world. Dr. Angelou describes how mostly White audiences devoured the play, but continued their dedication to White Supremacy - even to the negro cast as soon as they stepped off the stage. The Suspected Racist director, Sidney Bernstein, shafted Max Roach and Dr. Angelou for their musical labor on the play. This is typical White Racism and the time-honored White tradition of robbing black artists. Bernstein was not ignorant about Racism. After speculating that her husband Vus might be cheating on her, our heroine contemplates poisoning her African care-mate. #AppleEvent #SoundtrackToACoupdÉtat #TheCOWS16Years INVEST in The COWS – http://paypal.me/TheCOWS Cash App: https://cash.app/$TheCOWS CALL IN NUMBER: 605.313.5164 CODE: 564943#

Today, we’re going to talk to Carmen David, who is going to share her experience with an aortic dissection after the delivery of her second daughter, her experiences recovering from that physically and emotionally, how she handled the information of two VUS’s, or Variants of Unknown Significance, and what she’s been doing since her dissection … Read More Read More

Wenn plötzlich alle Grosseltern werden Therese hat sich auf unseren Aufruf hin bei uns gemeldet. Wir wollten Geschichten hören von Menschen, die die Lebensmitte bereits hinter sich haben. Denn wir fragen uns: Wie ist es, kinderfrei zu sein, wenn rund um einen nun alle Grosseltern werden? Welche Déjà-Vus kommen da allenfalls wieder hoch, aus einer […]***** Hat dir diese Folge gefallen? Dann kommentiere sie und abonniere den Podcast überall dort, wo du Podcasts hörst: Apple, Spotify, Deezer, Pocket Cast und Youtube. Du findest uns auch auf Facebook und Instragram. Ein «Like» freut uns ungemein und hilft anderen, «Expectations – geplant und ungeplant kinderfrei» besser zu finden. Gemeinsam mit dir machen wir die leisen Geschichten lauter und machen so den kinderfreien Alltag sichtbar! Expectations bricht Tabus, klärt auf und interviewt geplant und ungeplant Kinderfreie und Expert:innen. Offen und inklusiv, gesellschaftspolitisch relevant. *****

Wenn plötzlich alle Grosseltern werden Therese hat sich auf unseren Aufruf hin bei uns gemeldet. Wir wollten Geschichten hören von Menschen, die die Lebensmitte bereits hinter sich haben. Denn wir fragen uns: Wie ist es, kinderfrei zu sein, wenn rund um einen nun alle Grosseltern werden? Welche Déjà-Vus kommen da allenfalls wieder hoch, aus einer […]

In this episode we’re going to talk to Nancy Billon, who was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS) with a combination of her medical history and a genetic test that revealed a VUS on COL3A1. 

Erin Langley was tested for VEDS (Vascular Ehlers-Danlos Syndrome) due to some concerning family history, but her results came back as a Variant of Unknown/Uncertain Significance, or VUS. In this episode, she shares her experience with those results and how she’s found support in the meantime. Link to the articles mentioned in the interview: The … Read More Read More

Ms. Charité Ricker, MS, CGC and Dr. Nadine Tung, MD, FASCO share updates from the new ASCO guideline on selection of germline genetic testing panels in patients with cancer. They discuss highlights on family history collection, when and how multigene panel germline genetic testing should be used, which genes are generally recommended for testing, and how germline genetic testing interfaces with somatic genetic testing. Ms. Ricker and Dr. Tung also note the importance of the guideline and the impact of these new recommendations on clinicians and patients with cancer. Read the full guideline, “Selection of Germline Genetic Testing Panels in Patients with Cancer: ASCO Guideline” at www.asco.org/molecular-testing-and-biomarkers-guidelines. TRANSCRIPT GDL 24E13 This guideline, clinical tools, and resources are available at www.asco.org/molecular-testing-and-biomarkers-guidelines. Read the full text of the guideline and review authors' disclosures of potential conflicts of interest in the Journal of Clinical Oncology, https://ascopubs.org/doi/10.1200/JCO.24.00662  Brittany Harvey: Hello and welcome to the ASCO Guidelines Podcast, one of ASCO's podcasts delivering timely information to keep you up to date on the latest changes, challenges and advances in oncology. You can find all the shows, including this one at asco.org/podcasts My name is Brittany Harvey, and today I'm interviewing Dr. Nadine Tung, a medical oncologist from Beth Israel Deaconess Medical Center in Boston, and Ms. Charité Ricker, a cancer genetic counselor with the Norris Comprehensive Cancer Center at the University of Southern California and Los Angeles General Medical Center, co-chairs on, “Selection of Germline Genetic Testing Panels in Patients with Cancer: ASCO Guideline.” Thank you for being here, Ms. Ricker and Dr. Tung. Dr. Nadine Tung: Pleasure.  Ms. Charité Ricker: Thank you. Brittany Harvey: Then, before we discuss this guideline, I'd like to note that ASCO takes great care in the development of its guidelines and ensuring that the ASCO conflict of interest policy is followed for each guideline. The disclosures of potential conflicts of interest for the guideline panel, including Dr. Tung and Ms. Ricker, who have joined us here today, are available online with the publication of the guideline in the Journal of Clinical Oncology, which is linked in the show notes.   So then, to start us off first, Dr. Tung, could you provide us a broad overview of both the purpose and scope of this guideline? Dr. Nadine Tung: Sure. A main impetus for creating the guideline is that oncologists are increasingly being tasked with ordering genetic testing for hereditary cancer risk for their cancer patients. More and more now, they may find themselves sending the test and then seeking guidance from genetic experts to interpret the result. And these panels range from focused tests with just a few genes to comprehensive ones that include over 100 genes. So it can be very overwhelming for an oncologist to be able to understand ordering these tests and explaining them to their patients. So, we believe that it was important to offer some guidance and direction on the use of these multigene panels. Brittany Harvey: Thank you for setting the stage for this guideline and the recommendations that come from it.   So then, Ms. Ricker, this guideline addresses four overarching clinical questions. I'd like to review the recommendations based on each of those questions for our listeners. So starting with that first question, what is the importance of family history collection in the setting of germline multigene panel testing and which elements of family history are the most important? Ms. Charité Ricker: Thanks. As a genetic counselor, this is probably one of my favorite questions. I love the opportunity we have to sit with families and really dig into family history. But family history collection can be overwhelming and a big lift sometimes in busy clinics where genetics is not the focus. So, what we tried to do was to break down the key elements of what components of family history are most relevant to informing which test to do, and also the interpretation of those test results. And I like to think about the key pieces of family history as being the who, what, and when of somebody's family cancer history. Who was diagnosed with cancer within their close relatives? And usually we're most focused on first and second degree relatives. So parents, siblings, grandparents, aunts, and uncles. But sometimes relevant history might go into third degree relatives like cousins or more distant. So the who being who has cancer on both sides of the family? And then the what: what kind of cancer was it? Or where did that cancer begin? And the when: how old was that individual at the time they were diagnosed? Often we ask patients maybe not to fixate on the exact age, but to give us a sense. So was this somebody who was diagnosed young, in their 20s or 30s or older, in their 60s or 70s? Because that at least gives us a ballpark around what might be relevant for understanding the genes that should be included on somebody's test.  When we are thinking about the purpose of this history, as Dr. Tung said, often the range of multigene panels might be from a few very focused genes to a very broad panel. Family history can help us understand if we need to step beyond the very focused genes that might be relevant for the patient's history of cancer and include other genes that might be indicated based on that family history. So I think about the role that family history has at the time of identifying which test to do and then its role when interpreting what those results mean for the patient and their family. Again, Dr. Tung touched on the fact that we are often testing very large panels. However, we still don't know everything. And so a negative genetic test result does not mean that somebody does not have additional cancer risk. And family history becomes our kind of guiding star for understanding if there is still a need to change the cancer screening and prevention management for that individual and their family members. Brittany Harvey: Absolutely. Those are key points to understanding the important role of family history for each individual patient.  So then moving to the next clinical question, Dr. Tung, what does the panel recommend regarding when and how multigene panel germline testing should be used, when germline genetic testing is indicated? Dr. Nadine Tung: Well, anytime multiple genes need to be tested, as Ms. Ricker said, because of the patient's own personal cancer history, or their family history of cancer and close relatives, it's appropriate to consider a multi-gene panel. And in truth, we rarely ever just order one gene these days. Perhaps we do if there's a known gene like a BRCA gene in the family, and a relative just wants to know if they have that. But it's not all that common. And to be clear, as Ms. Ricker is going to cover a bit later, we are recommending that the appropriate minimal panel at least include the genes relevant to the patient's own cancer and the cancers in their relatives.  But it's worth thinking about what are some of the pros and cons of ordering genes beyond that, beyond the patient's own cancer or their relatives? Well, for pros, since a patient's awareness of their family history may be incomplete, testing for a larger number of cancer risk genes does ensure that significant pathogenic variants won't be overlooked. And sometimes, even if the family history is well known, pathogenic variants in important cancer risk genes can be found even when the family history would not have prompted testing for them. But it is important for clinicians to appreciate that bigger isn't necessarily better. Some larger panels may include genes for which management of pathogenic variants is not entirely clear and that can create anxiety or unnecessary screening. And if the clinician receiving the information is not well informed about the significance of the finding, that can lead to unnecessary treatment and sometimes even unnecessary surgeries.   And I'd add one final point that clinicians must have a system for communicating reclassification of these variants, the ones with uncertain significance that we call VUS. Because as the number of genes tested increases, so does the likelihood of encountering these VUS. So I would say those are some of the main points about when to use the panel and when to think about larger or smaller panels. Brittany Harvey: Yes, I appreciate you reviewing both the pros and cons of expanding the genes included in multi-gene panel testing and the importance of variants of uncertain significance.   So then Dr. Tung just touched on this, but speaking of minimal panels and which genes should be included, Ms. Ricker, what are the recommendations on which genes are generally recommended for germline genetic testing? Ms. Charité Ricker: I think this is one of the harder questions that our group took on as we were working on this guideline. I don't think there is a one size fits all and one easy answer to this question. However, we chose to approach it by selecting the more common solid tumors that oncologists see in their clinics and the ones where the role of genetic testing is most well defined, as well as some very rare tumors where they're kind of easy. So we know that all individuals with certain types of cancers, even though they are rare, should merit genetic testing regardless of age of diagnosis, family history.  And so as we approached it, and I really appreciate ASCO's support in helping us develop some tools and tables that hopefully will be important aids for clinicians who are trying to make these decisions, we took the approach of, as Dr. Tung mentioned, selecting kind of a minimal set of recommended genes where most individuals who are informed in this area would agree that if nothing else was done, these genes should be done, but then also acknowledged that there is an expanding understanding about the impact of certain genes on cancer risk, and so then also provided a kind of a next level if somebody wanted to be more expansive, what we would recommend less strongly, but would be reasonable to consider. Then I think the other last piece that the committee felt was important to acknowledge is that given how common, in comparison to some of these genetic conditions that we work with, pathogenic variants in BRCA1 and BRCA2 can be, and also the important clinical impact of those genes along with the genes associated with Lynch syndrome, we felt that those were important to think about in the setting of all cancer patients. So if you're approaching a panel and thinking about what genes to include, looking at that kind of minimally recommended based on the patient's personal and family history, maybe the next level, which might include some additional genes that we have included in kind of the less strongly recommended category for those tumor types. And then consideration of the BRCA1 and 2 genes and genes associated with lynch syndrome, if they weren't already encapsulated by your other personal and family history considerations. Brittany Harvey: Definitely. This was a big lift for the panel to tackle, and the tools and tables that you mentioned are all available online with the publication in the Journal of Clinical Oncology. So listeners who are looking for more specifics on that can definitely refer to those tools and tables there.  Dr. Tung, the last clinical question: which patient should be offered germline genetic testing, who will have or who have previously had somatic genetic testing? Dr. Nadine Tung: Identifying which genes identified through the tumor testing should trigger germline testing is really important for assessing our patients' future risk of cancer and their relatives. So during the development of our guidelines, the ASCO expert panel became aware that the ESMO Precision Medicine Working group had updated their recommendations for this topic, namely germline testing in response to tumor test findings. And these recommendations were based on the Memorial Sloan Kettering IMPACT registry, which consists of nearly 50,000 tumors and paired germline testing. Given the sheer volume of that data and the methods that ESMO used, our group decided to use that as a framework to develop our recommendations. The ASCO guideline provides a list of genes that, if found in the tumor, a pathogenic variant in those genes may prompt germline testing.  And we offered or proposed two different approaches. The first approach, which is broad and perhaps simplest, involves doing germline testing if a pathogenic variant is found in any of the genes listed. But then we offer a conservative approach to test the germline for all highly actionable genes, like BRCA1 and 2, or lynch genes that are found in a tumor, but for less actionable genes, testing the germline only if the pathogenic variant is found in a tumor relevant to that gene. So, for example, ATM, if found in breast cancer or pancreatic cancer, would trigger germline testing with this approach, but not if found in lung cancer, whereas with the permissive first approach, you would simply test the germline if any pathogenic variant is found in any of the genes on the list. This latter, more conservative approach, while less sensitive for identifying every germline pathogenic variant, increases the likelihood that a pathogenic variant found in the tumor will actually be germline. That approach considers the limited resources available, such as genetic counselors, and respects trying not to overwhelm a system already stressed. Brittany Harvey: Thank you for reviewing both of those approaches and to you both for discussing all of the recommendations included in this guideline.   Finally, to wrap us up, in your view, Ms. Ricker, what is the importance of this guideline and how will it impact both clinicians and patients with cancer? Ms. Charité Ricker: I hope that this guideline can open the door for more expansive and appropriate utilization of germline genetic testing. For me, I think about, from both the clinical and patient side, for example, all ovarian cancer patients have had a recommendation for germline genetic testing for many years. Nonetheless, data from multiple research studies has shown us that ovarian cancer patients still are not being tested universally, and this has important implications for their treatment plans and for their family members. And so even in the setting where genetic testing, if I can use the phrase, has been simple in that it didn't require family history, it didn't require even a specific age criteria, it was just broad, testing is not utilized as much as it should be, and then you step into the world of more complex decision making around genetic testing for other tumor types. And so we hope that this provides a framework to simplify that decision making process for providers to increase appropriate utilization.   And then from the patient perspective, I also think about the lack of access of genetic testing in underrepresented communities and minoritized patient populations where there's many barriers that patients face in accessing genetic services. And so if we can help reduce the barriers for this piece of the genetic testing process, my hope is that that opens up better avenues for access to testing, not just for patients with certain tumor types, but for all patients from all communities and backgrounds. Brittany Harvey: Yes, those are key points. We hope that this guideline helps all patients access the appropriate testing to better inform their cancer prevention and treatment.  So I want to thank you both so much for your work on this comprehensive guideline on germline genetic testing and all of the work that you put into it. And thank you for your time today. Ms. Ricker and Dr. Tung,  Dr. Nadine Tung: Thank you. Ms. Charité Ricker: It was a pleasure to be here. Thank you. Brittany Harvey: And thank you to all of our listeners for tuning in to the ASCO Guidelines Podcast. To read the full guideline, go to www.asco.org/molecular-testing-and-biomarkers-guidelines. You can also find many of our guidelines and interactive resources in the free ASCO Guidelines app, available in the Apple App Store or the Google Play Store. If you have enjoyed what you've heard today, please rate and review the podcast and be sure to subscribe so you never miss an episode.    The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions.   Guests on this podcast express their own opinions, experience, and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.

durée : 01:18:28 - Les Nuits de France Culture - par : Antoine Dhulster - En 1994, pour "Les Nuits magnétiques", Simon Guibert demandait à des Européens ce que l'Europe représentait pour eux. - réalisation : Virginie Mourthé

durée : 01:18:30 - Les Nuits de France Culture - par : Philippe Garbit - En 1994, pour "Les Nuits magnétiques", Simon Guibert demandait à des Européens ce que l'Europe représentait pour eux.

durée : 00:02:22 - Français du monde - par : Emmanuel LANGLOIS - À deux mois, jour pour jour, de la cérémonie d'ouverture des JO de Paris 2024, en Suisse aussi on suivra de près les épreuves. Sur les rives du lac Léman, Lausanne accueille en effet le seul musée olympique au monde, comme l'explique ce Français, chargé de la communication du musée.

ICD-11 = LD90.Y #LD90Y https://x.com/cureSYNGAP1/status/1730629792137883800   Adult paper and study https://x.com/AledoNeuro/status/1726206128390848604   AES - Lots of SYNGAP1 incl paper with ciitizen data https://x.com/JillianLMcKee/status/1731420167672942878   RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers  - Chow https://x.com/CNSdrughunter/status/1730233903602872424  - VUS https://x.com/CNSdrughunter/status/1730268276989571512  - Genetic Therapies https://x.com/dretico/status/1730298959824875741   FD23 - 60 Families from 16 Countries.  Awesome leadership.   Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca    Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

In the finale of our series "Conversations about Hypertrophic Cardiomyopathy", Dr Ankur Kalra welcomes, Dr Anjali Tiku Owens, for a dynamic and practical discussion. Dr Owens is Medical Director of the Center for Inherited Cardiac Disease and Associate Professor of Medicine at the Hospital of the University of Pennsylvania. This series is supported by an unrestricted educational grant from Bristol Myers Squibb. Please see www.camzyosrems.com for important safety information. In this week's episode, Dr Kalra and Dr Owens take us on a journey through the complexities of hypertrophic cardiomyopathy (HCM), with focus on the diagnostic challenges and breakthroughs in this field. Emphasising with the critical importance of making accurate diagnoses, Dr Owens shares her insights into identifying the common mimickers of HCM through a structured approach starting with taking the patients history. As the conversation delves deeper, Dr Owens discusses the various diagnostic tools and tests used to rule out other conditions and uncover the underlying aetiology. She navigates us through the algorithm for interpreting genetic test results, differentiating pathogenic variants, benign variants and variants of uncertain significance (VUS). Dr Owens talks about the wider implications for family members and the cases in which she recommends screening. Dr Kalra asks Dr Owens about her approach to exercise in HCM patients. Additionally, they cover the debated topic of defibrillator therapy and the use of HCM Risk-SCD risk calculator. Dr Owens provides an overview of the treatment paradigms for HCM, touching on haemodynamic classifications, symptomatology and the evaluation of sudden death risk. What are the most common mimickers of HCM? What is Dr Owens and her heart team approach to decision making? What is the role of genetic testing in patients with HCM? This content is intended for US-based physicians.