Podcasts about wgs

Edward G. Dudley, Ph.D. is the Director of the E. coli Reference Center and a Professor of Food Science at the Pennsylvania State University. He has a broad background in molecular biology, physiology, and foodborne bacteria genomics, with expertise in both beneficial and pathogenic species. His current research program focuses on factors that drive the virulence of Escherichia coli O157:H7 and the development of DNA sequence-based methods for tracking pathogen spread during foodborne illness outbreaks, including wastewater monitoring. Dr. Dudley is a past Chair of the Food Microbiology Division of the American Society of Microbiology (ASM), the Food Microbiology Representative to ASM's Council of Microbial Sciences, and a previous member of ASM's Microbe Program Committee. In 2019, he was appointed an ASM Distinguished Lecturer and Co-Editor of the Evolution and Genomics domain for ASM's online journal, EcoSal Plus. He was also elected to the American Academy of Microbiology in 2023. Dr. Dudley holds a Ph.D. in Bacteriology and an M.S. degree in Food Science, both from the University of Wisconsin–Madison. In this episode of Food Safety Matters, we speak with Dr. Dudley [35:17] about: A study conducted by Dr. Dudley's lab that investigated the usefulness of wastewater monitoring for surveillance of foodborne Salmonella illnesses How whole genome sequencing (WGS) was used to link Salmonella isolates from wastewater systems in central Pennsylvania to an existing salmonellosis outbreak The significance of discovering the rare S. Baildon serotype in the wastewater samples How wastewater monitoring activities could fill gaps created when foodborne illnesses go underreported by infected people, as well as the potential limitations of wastewater monitoring for foodborne illness surveillance Other foodborne pathogens besides Salmonella that could be surveilled via wastewater monitoring Apart from the Salmonella wastewater monitoring study, various research projects carried out by Dr. Dudley's lab related to E. coli. Before we speak to Dr. Dudley, we also hear from Patrick Schneider [25:37], Vice President of Operations and Engineering (Chlorine Dioxide) at CDG Environmental LLC. In his interview, he discusses the usefulness of chlorine dioxide for food plant sanitation, and what makes CDG Solution 3000TM the “gold standard in chlorine dioxide solutions.” Prior to joining CDG Environmental, Mr. Schneider spent 35 years holding various global roles in the oil and gas industry. He holds a B.S. degree in Petroleum Engineering from Penn State University. News and Resources News FDA Delays FSMA 204 Traceability Rule Compliance Date by 30 Months [4:02]FDA Launches ‘Operation Stork Speed' to Improve Infant Formula Safety, Including Contaminant Testing [11:08]Thousands More Layoffs Coming to FDA, CDC as HHS Announces Major Restructuring [12:06]Microplastics Increase Antibiotic Resistance of E. coli, Aid Biofilm Formation, Study Shows [18:12]Proposed Rule Would Require Mandatory Labeling on Alcoholic Beverages for Big 9 Food Allergens [22:35]Trump Admin Nominates CDC Acting Director Dr. Susan Monarez as Agency's Next Director [23:10]Boar's Head Appoints Natalie Dyenson as Chief Food Safety Officer [24:09] Resources Get 20 percent off your 2025 Food Safety Summit registration with code “FSMatters20” Wastewater Monitoring Can Aid Foodborne Illness Surveillance, Study Shows Wastewater Surveillance Useful for Norovirus Outbreak Detection Presenting Sponsor: CDG Environmental Visit CDG Environmental at Booth #333 at the 2025 Food Safety Summit! We Want to Hear from You! Please send us your questions and suggestions to podcast@food-safety.com

In this episode of The Dish on Health IT, host Tony Schueth leads an engaging discussion on pharmacy interoperability, a topic at the center of a recently published POCP white paper funded by the NCPDP Foundation and supported by Surescripts. Joining Tony as guests are, John Hill, Executive Director of the NCPDP Foundation, and Larry King, Director of Intelligent Prescribing at Surescripts, to unpack the white paper's findings and explore the future of pharmacy's role in patient care.The conversation begins with Tony laying the foundation for the discussion by defining pharmacy interoperability as the seamless, bi-directional exchange of health information between pharmacy care settings and the broader healthcare ecosystem. This connectivity ensures that data flows effortlessly without adding complexity to the workflows of pharmacists or other providers. Tony highlights the POCP white paper, which outlines critical opportunities and challenges in achieving this vision. The document calls for leveraging standards and technology to integrate pharmacists as key contributors to care teams, addressing  medication management and broader clinical services.John Hill and Larry King bring their unique perspectives to the conversation. John shares insights into how the NCPDP Foundation is focused on grants that expand the pharmacist's role, improve patient safety, and enhance access to care. He emphasizes that the white paper marks a pivotal step toward identifying gaps in interoperability and opportunities to engage pharmacists more fully in patient care. Larry draws from his experiences as a pharmacist and industry leader, highlighting the complexity of patient needs and the roadblocks that prevent pharmacists from working to the highest and best purpose of their license. Both guests underscore the need for workflow-friendly solutions to reduce administrative burdens and allow pharmacists to spend more time on meaningful, patient-centered work.The discussion delves into the growing role of pharmacists, who are increasingly stepping beyond dispensing medications to provide direct patient care services, including immunizations, chronic disease management, and comprehensive medication reviews. Tony and his guests agree that pharmacies are uniquely positioned to fill gaps in care, especially in underserved areas, and to offload basic services from overburdened primary care practices. However, for pharmacies to step into this larger role, significant progress is needed in interoperability, reimbursement models, and technology adoption.A key focus of the conversation is the critical role of standards in enabling interoperability. John elaborates on how NCPDP works to ensure data can be exchanged seamlessly, highlighting their collaboration with HL7 on standards like the eCare Plan. He explains that standards not only ensure data consistency across systems but also reduce the burden on users by integrating into existing workflows. Larry adds that Surescripts' efforts to implement interoperable solutions, such as Qualified Health Information Networks (QHINs) under TEFCA, demonstrate the potential of standards to create a nationwide framework for secure data exchange.The guests also discussed the importance of using sustainable financial models to incentivize investment in interoperability. Larry points out that while there are some reimbursement programs for clinical services, inconsistencies remain a significant barrier. Both guests stress that the industry must develop scalable payment models that align with pharmacists' expanded roles and address the technology investments required to connect pharmacy systems with the broader care continuum.Emerging technologies like AI are also prominently featured in the discussion. Larry shares how Surescripts is leveraging AI for tasks like parsing patient instructions and monitoring network activity for compliance issues. John highlights NCPDP's efforts to explore how AI can support standards adoption and governance. Both agree that while AI offers enormous potential to optimize pharmacy workflows and enhance clinical insights, it must be implemented cautiously, with safety and security as top priorities.As the episode nears its conclusion, the guests reflect on the ideal future state of pharmacy interoperability. Larry envisions a world where patients experience seamless care, with providers and pharmacists having immediate access to comprehensive, accurate health information. This would eliminate redundant data collection, reduce errors, and enable faster, more informed decision-making. John echoes this vision, emphasizing that interoperability can empower pharmacists to operate at the top of their licenses, improving patient outcomes and addressing provider shortages.Tony closes the discussion by encouraging listeners to take actionable steps, such as engaging with workgroups like NCPDP's Work Group 20, reviewing the POCP white paper, and participating in industry initiatives that drive interoperability forward. John and Larry emphasize the urgency of acting now, describing this as a once-in-a-generation opportunity to create lasting change in healthcare delivery.For more insights and resources, including links to the white paper and details on key industry initiatives, check the episode summary. Subscribe to The Dish on Health IT on Apple Podcasts, Spotify, or Healthcare Now Radio to stay informed. Let's continue the journey toward a more connected and efficient healthcare system—because health IT is a dish best served hot!Reference Links: POCP Pharmacy Interoperability Whitepaper: https://info.pocp.com/pharmacy-interoperability-whitepaper NCPDP Foundation abridged results report: https://ncpdpfoundation.org/pdf/PharmacyInteroperability_AbridgedResults.pdf  NCPDP Foundation website (for grant proposals in connection with the CTA of future opportunities for grants): https://ncpdpfoundation.org/home.aspx  NCPDP Standards website (for encouraging involvement/collaboration in WGs in connection with the CTA of getting involved/supporting the mission): https://standards.ncpdp.org/  Surescripts Blog, "Ready for Action: Advancing Pharmacy Interoperability": Preparing Pharmacy with Technology to Participate in Healthcare Interoperability | Surescripts  

In this episode of The ASHE Podcast, we explore how innovative approaches in infection prevention are reshaping healthcare practices. Guests Graham Snyder, Elise Martin, and Ashley Ayers join the discussion to discuss their study titled "Impact of Discontinuation of Contact Precautions on Surveillance- and Whole Genome Sequencing-Defined Methicillin-Resistant Staphylococcus aureus Healthcare-Associated Infections" and what it means for the future of infection control. The conversation explores the evolving role of contact precautions (CP) in managing MRSA transmission. The discontinuation of CP has sparked debates in infection prevention, with this study providing a fresh perspective through whole genome sequencing (WGS). Unlike traditional surveillance methods, WGS offers deeper insights into MRSA transmission dynamics, unveiling patterns that can redefine how we approach infection control in acute care settings. The study's findings revealed a surprising drop in MRSA healthcare-associated infections (HAIs) post-discontinuation of CP, raising questions about how to balance infection prevention with resource management and patient safety. By reducing reliance on CP, hospitals may gain advantages such as cost savings and fewer adverse effects for patients, without compromising care quality. Finally, the episode delves into challenges faced during the study and the need for further research to refine infection prevention strategies. Future efforts could focus on tailoring CP to specific risks and developing more precise methods for tracking and preventing MRSA transmission. Be sure to read the full article available at Cambridge.org/ASHE. And for the official SHEA recommendations for MRSA treatment and prevention visit: https://www.cambridge.org/core/journals/infection-control-and-hospital-epidemiology/article/sheaidsaapic-practice-recommendation-strategies-to-prevent-methicillinresistant-staphylococcus-aureus-transmission-and-infection-in-acutecare-hospitals-2022-update/5DB835D2E13F7E813A8A2FD7CB8386BD

Das Hosentürl‘ des CEO steht offen. Dadurch wird es zu Beginn ausnahmsweise tiaf. Zum Glück erfangen sich die beiden aber schnell wieder und kehren zu gewohnter Seriosität zurück. Manuel hat eine große Erkenntnis: Er will nicht mehr versuchen Menschen zu ändern. Der CEO verkündet, dass die beiden noch vor Weihnachten zu Gast in einer Samstagabendshow sein werden. Ansonsten geht es noch um erste WGs, Duschen an Orten, wo sie nicht hingehören und zwei Lieblingsalben des Beisitzers. Simon kennt ein heimliches Hotel und versucht sich als Texter für Klopapierrollen: „Du wirst die anderen nicht verändern, also verändere deine Haltung zu ihnen.“ Man verarbeitet die vielen Eindrücke vom Latschenwirt und kündigt für nächste Woche eine Fahrt ins Blaue an.

During the last decade, advances in genome editing and pluripotent stem cell (PSC) culture have let researchers generate edited PSC lines to study a wide variety of biological questions. However, abnormalities in cell lines such as aneuploidy, mutations, on-target and off-target editing errors, and microbial contamination can arise during PSC culture or due to undesired editing outcomes. To ensure valid experimental results and the safety of PSC-derived therapeutics, it is important to detect these abnormalities and choose PSC lines without them. Existing quality control methods typically focus on detecting one type of abnormality. Whole genome sequencing is an all-in-one detection method for any abnormality involving changes to DNA sequences but until now it has required considerable computational expertise. Today's guests will discuss a new computational tool, SeqVerify, that analyzes short-read WGS data for quality control of wild-type or edited PSCs. The platform provides an end-to-end analysis framework that can be a valuable quality control method for researchers working with PSCs, and more broadly, for cell line quality control in general. GuestsGeorge Church, PhD Harvard University, Harvard Medical School, Massachusetts Institute of Technology, and Wyss Harvard Institute. Merrick Smela, PhD, Department of Chemistry and Chemical Biology, Harvard University. HostMartin Pera, Editor-in-Chief, Stem Cell Reports and The Jackson LaboratoryX: @martinperaJAXSupporting Content SeqVerify: An accessible analysis tool for cell line genomic integrity, contamination, and gene editing outcomes, Stem Cell ReportsAbout Stem Cell ReportsStem Cell Reports is the open access, peer-reviewed journal of the International Society for Stem Cell Research (ISSCR) for communicating basic discoveries in stem cell research, in addition to translational and clinical studies. Stem Cell Reports focuses on original research with conceptual or practical advances that are of broad interest to stem cell biologists and clinicians.X: @StemCellReportsAbout ISSCRWith nearly 5,000 members from more than 80 countries, the International Society for Stem Cell Research (@ISSCR) is the preeminent global, cross-disciplinary, science-based organization dedicated to stem cell research and its translation to the clinic. The ISSCR mission is to promote excellence in stem cell science and applications to human health.ISSCR StaffKeith Alm, Chief Executive OfficerYvonne Fisher, Managing Editor, Stem Cell ReportsKym Kilbourne, Director of Media and Strategic CommunicationsMegan Koch, Marketing ManagerJack Mosher, Scientific AdvisorHunter Reed, Senior Marketing CoordinatorVoice WorkBen Snitkoff

In dieser Folge tauchen wir tief in die Welt der Sondervermietungsmodelle ein. Du erfährst: ✅ Warum möblierte WGs eine Goldgrube sein können. ✅ Wie du mit Monteurwohnungen eine konstante Einnahmequelle erschließt. ✅ Warum Senioren-WGs nicht nur profitabel, sondern auch gesellschaftlich sinnvoll sind.

Paul Shapiro is the author of the bestselling book, Clean Meat: How Growing Meat Without Animals Will Revolutionize Dinner and the World. He is also CEO of The Better Meat Co., a company that uses fermentation to turn microbes into alternative meat. Paul is a five-time TEDx speaker, the host of the Business for Good Podcast, and a long-time leader in food sustainability. As an authority on food and agriculture sustainability, Paul has been interviewed by numeorous news outlets—ranging from CNN to StarTalk Radio with Neil deGrasse Tyson. He has also published hundreds of articles in publications like the Washington Post, Scientific American, FORTUNE, and academic journals. In 2023, Paul was named as a Most Admired CEO by the Sacramento Business Journal. In this episode of Food Safety Matters, we speak with Paul [23:58] about: The case for novel alternative proteins—including plant-based meats, cell-cultured meats, and mycoproteins—as sustainable solutions to meeting increasing global protein demand while reducing the environmental impact of traditional animal agriculture The Better Meat Co.'s focus on mycoproteins and the advantages they offer in terms of scalability and texture How the U.S. Food and Drug Administration (FDA) oversees cell-based meat products, and the current regulatory status of cell-cultured proteins in the U.S. The microbial food safety advantages of cell-cultured meat over traditional meat products State-level legislative attempts to restrict the sale of cell-based meat, driven by efforts to protect the traditional meat industry; and whether the alternative protein and traditional protein industries can coexist The likelihood of American consumers becoming more interested in cell-based meats and how their apprehensions might be addressed Nutritional benefits of plant-based meat alternatives not offered by traditional meat products. News and Resources McDonald's and Taylor Farms E. coli Outbreak [4:05] McDonald's E. coli Outbreak Grows to 104 Illnesses in 14 States; Testing Has Not Yet Found Outbreak Strain FDA Unable to Implicate Grower in E. coli Outbreak Linked to Taylor Farms Onions Served at McDonald's EPA Approves First Antimicrobial Treatment of Foodborne Pathogens in Preharvest Agricultural Water [11:11] Study Shows Impact of WGS on Foodborne Illness Outbreak Detection in Canada [13:28] FDA Publishes Supplement to 2022 Food Code [20:29] USDA's Regulatory Framework for Salmonella in Raw Poultry [21:29] USDA-FSIS to Hold Two Public Meetings on Salmonella Framework for Raw Poultry in December Esteban and Eskin: On the Frontlines of the Food Safety Fight Against Salmonella in Poultry We Want to Hear from You! Please send us your questions and suggestions to podcast@food-safety.com

Malte und Burak sind heute zu zweit in der Folge. Keine Ahnung, was Malte hat, aber er kommt auf Buraks Putz- und Spülwahn nicht klar. Der wiederum kommt auf Männer WGs nicht klar, die das Wort Sauberkeit nicht mal buchstabieren können. Denn die Zeit an der Uni war traumatisch, wenn Jungs buchstäblich in Scheisse leben. Malte hat trotzdem 'nen 1er Schnitt geschafft und wer so fleißig ist, darf sich auch über Burak aufregen. (Hat er selber gesagt wallah) Goosebumps e.v. DE31 3505 0000 0200 4232 26 Verwendungszweck: Spende Theaterprojekt

Tobias ist zu Beginn seines Studiums auf einer nervenzehrenden Wohnungssuche - bis er einen Platz in einer inklusiven WG bekommt. Also in einer Wohngemeinschaft für Menschen mit und ohne Behinderung. Und er fragt sich - warum machen das nicht mehr Menschen, die auf Wohnungssuche sind? Also gründet er Wohn:sinn - eine Plattform, um deutschlandweit inklusive Wohnprojekte oder WGs zu finden. Das Projekt läuft ziemlich gut an - aber dann stirbt Tobias' Mentor Rudi. Die ganze Geschichte ab dem 20. November hier bei "Sparks - Menschen, die uns inspirieren".

Technische Universität München mit Peter Schmitt #046 In unserer 46. Folge dürfen wir Peter Schmitt (Instagram) begrüßen. Peter studiert Maschinenwesen an der Technischen Universität München, kurz TUM. Während er gebürtig aus Aachen kommt und in Weilheim groß geworden ist, lebt er mittlerweile in Bayern, der Stadt München. Peter gibt euch tiefe Einblicke in seinen ganz persönlichen Alltag, sowie in seine Erfahrungen an der Technischen Universität München und der Stadt München. Neben der TUM ist auch die LMU und weitere Hochschulen in München vertreten, weshalb die Großstadt mit über 150.000 Studierenden durchaus als Studierendenstadt verstanden werden darf. Freut euch auf einen Gast, der euch erzählt warum er sich für die TUM und nicht für die LMU entschieden hat, was Flugzeuge und große Gebäude damit zu tun haben und wieso München trotz Großstadt sich manchmal anfühlt, wie ein Dorf. Da die Universität sich etwas außerhalb befindet, empfiehlt Peter die Strecke mit der U-Bahn, für alle Strecken in der Stadt selbst, wird wohl am häufigsten das Fahrrad verwendet. Wie man bei der Wohnungssuche vorgehen sollte, ob sich die Bewerbung auf ein Studierendenwohnheim trotz drei bis vier Wartesemester lohnt und ob die meisten Studierenden in München in WGs oder alleine wohnen, das und vieles mehr erfahrt ihr in unserer neuen Folge. Platz 1: Podcast-Ranking im Bereich Bildung ⁠⁠>> hierhierhier

Barbara Kowalcyk, Ph.D., M.A., is an Associate Professor in the Department of Exercise and Nutrition Sciences and the Director of the Food Policy Institute at George Washington University's (GW's) Milken Institute School of Public Health. She also has an appointment in the U.S. Department of Environmental and Occupational Health and is a fellow with the Sumner M. Redstone Global Center for Prevention and Wellness. Dr. Kowalcyk's research spans a range of topics related to food safety and infectious foodborne disease, and their intersection with nutrition security. She has extensively used epidemiologic methods, data analytics, and risk analysis to assess food safety risks and potential intervention strategies in both the U.S. and the Global South. Prior to joining GW in 2023, Dr. Kowalcyk was faculty at Ohio State University with appointments in the Department of Food Science and Technology and the Department of Environmental Health Sciences, and directed the Center for Foodborne Illness Research and Prevention (CFI), a nonprofit organization she co-founded in 2006. Prior to joining OSU, she was a senior food safety and public health scientist at RTI International and a research assistant professor in the Department of Food, Bioprocessing, and Nutrition Science at North Carolina State University. Dr. Kowalcyk holds a B.A. degree in mathematics from the University of Dayton, an M.A. degree in Applied Statistics from the University of Pittsburgh, and a Ph.D. in Environmental Health from the University of Cincinnati. She has served on many national committees, including two National Academy of Sciences committees and her current appointment to the U.S. Food and Drug Administration's (FDA's) Science Board.   In this episode of Food Safety Matters, we speak with Dr. Kowalcyk [39:50] about: Her research and advocacy work in the food safety realm, which focuses on advancing equitable food systems that promote public health and prevent foodborne illness How Dr. Kowalcyk's background and personal experiences shaped her career in food safety The interconnectedness of food safety, nutrition, and food security, and the need for an integrated approach to drive improvement in these three areas Dr. Kowalcyk's experience as part of the Reagan-Udall Foundation independent panel that conducted the 2022 evaluation of FDA's operations, and her impressions of the proposed reorganization plan for the agency's Human Foods Program The benefits of whole genome sequencing (WGS) and other technological advancements in foodborne illness outbreak detection and monitoring, and why “boots-on-the-ground” data is still crucial Current food safety challenges on Dr. Kowalcyk's radar, like the effects of climate change on the safety of water used in food production and the need for workforce development in the food safety industry. News and Resources FDA Publishes FSMA Pre-Harvest Agricultural Water Final Rule [7:41] USDA Testing Retail Ground Beef for HPAI H5N1; Maintains That U.S. Meat Supply is Safe [17:28] FDA Testing Finds HPAI in Retail Milk Samples; Research Required to Determine Infectivity, Food Safety Risk Florida Becomes First State to Ban Cell-Based Meat [23:50] Alabama Poised to Ban Cell-Based Meat Thanks, Sesame: U.S. Food Recalls Due to Undeclared Allergens Skyrocketed in 2023, Causing Half of All Food Recalls [32:53] Food Safety Summit 2024 Keynote: On-Demand Replay Now AvailableFood Industry Counsel—Food Recall Search We Want to Hear from You! Please send us your questions and suggestions to podcast@food-safety.com

Das Ding ist: Neuanfänge sind mega geil! Außer wenn sie es nicht sind. Es gibt die Neuanfänge, die man sich selber aussucht, auf die man hinarbeitet, über die man sich freut. Natürlich gibt es aber auch die Umbrüche, die überraschend kommen, die unerwünscht sind, die weh tun. Auch das Leben der Moderatorinnen ist voller Neuanfänge: Lensi hat einen neuen Job, Anna hat sich vor einem Jahr selbstständig gemacht und dieser Podcast, ist ja auch irgendwie ein Neustart. Aus der Philosophie hat Lensi heute Wilhelm Schmid am Start! (Nutzt gerne die Gelegenheit euch gottlos abzuschießen und trinkt immer einen Shot, wenn wir Wilhelm Schmid sagen.) Wilhelm Schmid hat kluge Dinge zum Thema Neuanfang und Veränderung gesagt, die Lensi uns in dieser Folge präsentiert. Sollte man den Schlüssel mal woanders hinlegen? Ist Gerstensaft der erste Schritt zum Marathon? Wie handhabt man Veränderung so, dass es fair für das eigene Umfeld bleibt? In dieser etwas längeren Folge, haben Lensi und Anna jede Gelegenheit genutzt vom Thema abzuschweifen, klären dabei aber wichtige Fragen, wie zum Beispiel: Gehören Männer WGs ohne Föhn ins Gefängnis? Und können queere Menschen normal sitzen (wird hier geflirtet?)? Hört doch gerne rein! Und wie Édith Piaf einst sang: “Non, je ne regrette rien”… Quellen: Gocłowska, M. A., Ritter, S. M., Elliot, A. J., & Baas, M. (2018). Novelty seeking is linked to openness and extraversion, and can lead to greater creative performance. Journal of Personality. doi:10.1111/jopy.12387 Ranganath, C., & Rainer, G. (2003). Neural mechanisms for detecting and remembering novel events. Nature Reviews Neuroscience, 4(3), 193–202. https://doi.org/10.1038/nrn1052 Schomaker, J., & Wittmann, B. C. (2021). Effects of active exploration on novelty-related declarative memory enhancement. Neurobiology of Learning and Memory, 179, 107403. https://doi.org/10.1016/j.nlm.2021.107403 Wilhelm Schmid: Selbstfreundschaft. Wie das Leben leichter wird. Suhrkamp, Berlin 2018 https://www.deutschlandfunkkultur.de/lebenskunst-philosoph-wilhelm-schmid-ueber-die-kunst-des-100.html Sexout. Und die Kunst, neu anzufangen. Insel, Berlin 2015

Kiki ist umgezogen und Linh wird sehr bald umziehen - deswegen reden wir in dieser Folge über Umzüge und Wohnsituationen. Leben wir lieber alleine oder in WGs? Wie oft sind wir schon umgezogen? Und was bedeutet ein Umzug für uns? All das und vieles mehr besprechen wir in dieser Folge - viel Spaß beim Hören!

Kiki ist umgezogen und Linh wird sehr bald umziehen - deswegen reden wir in dieser Folge über Umzüge und Wohnsituationen. Leben wir lieber alleine oder in WGs? Wie oft sind wir schon umgezogen? Und was bedeutet ein Umzug für uns? All das und vieles mehr besprechen wir in dieser Folge - viel Spaß beim Hören!

Beim WG-Casting direkt schockverliebt? Das WG-Haustier verhungern lassen? Oder bei Mitbewohner:innen das vergammelte Geschirr unterm Bett rausgezogen? Welche Stories habt ihr schon in eurer WG oder in WGs von Freund:innen erlebt? Haut sie raus! Jule Kaden wollte nicht nur über eure WG-Absurditäten sprechen, sondern auch über Dinge wie: Depression oder Sucht bei Mitbewohner:innen. Was habt ihr schon mitbekommen und wie seid ihr damit umgegangen?

There are a range of outcomes from a genomic test. The results might provide a diagnosis, there may be a variant of uncertain significance, where a genetic variant is likely the cause of the condition, or there might be no particular gene found that is linked to the phenotype or clinical condition - also known as a "no primary finding" result. In this episode, our guests explore the impact of a "no primary finding" result on families, discussing the common experiences and expectations of parents and patients who undergo that genetic testing, and the role that hope plays in the experiences of children with rare and undiagnosed conditions. Today's host, Lisa Beaton, member of the Participant Panel at Genomics England is joined by Dr Celine Lewis, Principal Research Fellow in Genomics at UCL, Great Ormond Street Institute of Child Health, Jana Gurasashvili, a Genetic Counsellor, and Louise Fish, CEO of Genetic Alliance.   "I think it's also really important to add that hope isn't necessarily lost when you don't get a diagnostic result. And in a sense, what can be really helpful is for genetic counsellors to reframe that hope...sort of giving it a different context."   For more information on the SWAN UK project which supports families with children that have been through genetic testing but have not found a result following that genetic testing, visit the website. Read more about the study by Jana Gurasashvili and Dr Celine Lewis: The disequilibrium of hope: a grounded theory analysis of parents' experiences of receiving a "no primary finding" result from genome sequencing.   You can read the transcript below or down it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Hope-for-those-with-no-primary-findings.docx    Lisa: Hello, welcome to the G Word.  Lisa: I think in the back of my mind, subconsciously, I had hoped that when we eventually got a diagnosis, it would – I don't know, bells and whistles, balloons going off, fireworks, etc. And then the experience of a letter thumping on the doormat, and I recognised the postmark quite quickly, and it was at that moment I suddenly thought, “Oh gosh, I haven't buried all these feelings of hope.” Because I opened that letter with quite trembly hands, and then this diagnosis or lack of diagnosis, you know, nothing had been found, and it was a bit… I don't know if it's been described as like a nail in the coffin experience, because I really hadn't realised I was still clinging to this hope all that time, and then again it was, you know, another, “No, nothing's there. Lisa: My name is Lisa Beaton and I'm a member of the participant panel at Genomics England. On today's episode, I'm joined by Dr Celine Lewis, the principal research fellow in Genomics at UCL, Great Ormond Street Institute of Child Health, Jana Gurasashvili, a genetic counsellor, and Louise Fish, the CEO of Genetic Alliance. Today we'll be discussing the impact on parents with children with rare conditions, who received a no primary findings result after diagnostic whole genome sequencing. If you enjoy today's episode, we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Can I ask all of us here present to introduce themselves, please? Celine: Hi everyone, I'm Celine, I'm a behavioural scientist in genomics at UCL Institute of Child Health, and I currently hold an NAHR advanced fellowship to look at the implementation of WGS, or whole genome sequencing, in the NHS. Jana: I'm Jana Gurasashvili and I'm a genetic counsellor at Northwest Thames Regional Genetic Service, and prior to that I was at Great Ormond Street, involved with consenting families to the 100,000 Genomes Project, and I also have an ongoing interest in the lived experience of patients and parents of genetic counselling and rare disease. Louise: Hi, I'm Louise Fish, I'm the chief executive of Genetic Alliance UK, and we are an alliance of around 230 charities and support groups that work with patients and families who have particular rare conditions. We also run a really longstanding project called SWAN UK, and SWAN stands for syndromes without a name. And the SWAN UK project supports families with children that have been through genetic testing but have not found a result following that genetic testing. So, it's clear they have a genetic condition, but science hasn't quite advanced far enough yet to tell us what that means and what that will mean for their child, and what that will mean for their family over the coming years. Lisa: And I personally can attest to the wonderful support that SWAN UK can offer because, as the parent of a still undiagnosed child, I have been involved myself with SWAN UK since my daughter was around the age of three to four years old. It's brilliant being a part of my big SWAN UK family. We first realised that there were some – I suppose something wrong with our daughter when she was around two weeks of age, but it wasn't something I could specifically put my finger on. I couldn't at that point have taken her to a doctor and said, “I don't know what's wrong but there's something wrong.” I just knew in my heart of hearts, probably because I have three elder children, that there were issues, and things weren't developing as they should. She cried a lot, she screamed a lot, she never seemed to be comfortable in any position when you held her, when she was asleep, when she was upright. It didn't seem to matter what you did, she was just a rigid, stuck child, for want of a better word. And all my mum senses were screaming, but it completely sounded ridiculous to take her to a doctor saying, “She feels wrong.” And I think that's quite a SWAN UK experience, from chatting to other families with similar situations. The parents just know that there's something not right, but it can be very isolating not to be able to identify kind of where that starts and what it is. In our case, it wasn't until our daughter was nine weeks old that things became much more obvious, that there were developmental concerns physically and medically, and at that point we went from my sort of mutterings that there was something wrong but I wasn't sure what it was, to a sudden hospital admission with quite a shocking turn of events. From something that had started out quite normally, as a routine visit to the baby clinic, to suddenly being seen by a troop of different paediatricians, and doctors coming in and out constantly, asking different questions, and sending us off all over the building for different tests and x-rays and imaging. And being given a partial diagnosis that our daughter had a condition called arthrogryposis, but it was clear that there was much more going on than that, and we would need referring to many more different fields. And that day really our diagnostic odyssey, for want of a better word, began. So actually, in terms of that diagnostic odyssey, many parents of children with rare undiagnosed conditions experience this, and when we agree to have genetic testing, we feel that we are going to get these answers straight away, and that every appointment that you go along to is going to be the one that brings you the answers. But certainly in our experience kind of 15 years on, that's not been the story at all. Celine, can I ask you to explain what the words no primary findings actually mean when a parent receives that regarding their child? Celine: So, there's a range of different possible outcomes from a genomic test. So, the results might provide a diagnosis to that patient and family, or other situations, there might be a variant of uncertain significance, so we don't necessarily know if the gene that we found, a genetic variant is the likely cause of the condition, or we might find no particular gene at all that we think is linked to the child's phenotype or clinical condition. So, that's what we mean really when we're sort of saying no primary finding. Lisa: Louise, would you be kind enough to explain what you think the impact of no primary findings means to families like my own, parents who don't have a genetic likelihood cause, just a gene thrown up to diagnose their child? Louise: Yeah, I think it's a huge challenge for families, and you'll obviously know that from your own experience. People go to have genetic testing hoping it will give them some answers, first and foremost, just to kind of understand, you know, what condition their child has and what the likely impact that's going to be on their child and on the child's life, and on the family's wider life. And I think one of the things that we really ask genetic counsellors and geneticists to do is help people understand before the genetic testing takes place that there may be nothing found from it, so that that kind of expectation is built in. Because people hope that they will get a diagnosis that will give them answers about what the impact of the condition will be on their lives. In a best-case scenario, access to a particular treatment that might be a huge help for their child, but at the very least, access to a range of services and support for their child. So, that kind of diagnosis is often seen by families as the key to unlocking a range of services and support that will help them and their families at what is the beginning of a lifelong journey. And I think when families get no diagnosis, there's a real concern on behalf of families, a, that they don't understand how their child's going to be affected by the condition. What we're really careful to say to families is, “Just ‘cos you don't have a diagnosis with a name, your child is still the same person they were before. They still have exactly the same bundle of needs as they had before, and you will still need to work with the NHS and with wider services to make sure that they can access speech and language therapy, and physiotherapy, and all of the services that they are going to need and you are going to need to help them live their lives to the full.” But I think that moment of not getting a diagnosis is when people feel I think real – the uncertainty continues, and uncertainty, we know, is a really hard thing to live with, and the lack of clarity about which services you'll be able to access. So, I think psychologically it's a massive impact on the family not to have the answers that they were looking for, or the key to the services that they were hoping would be there. Lisa: Thank you, Louise, yeah, I would definitely agree with that. We had a no primary findings result in I think it was 2019. It was a really bittersweet moment because my daughter's list of various different conditions kind of – by this point, named parts of difficulties for her spans over sort of two pages of A4, and yet on the letter back from the genomics service, it just says that, you know, nothing causative has been found. And so part of you is left wondering, well, how can there be all these different conditions or difficulties, and yet there's still nothing there? And I know personally, I had comments when she was much younger, every time a test came back, where people would say things like, “Oh well, that's great news,” and to some extent it was great news that something hadn't been found, but also if that hadn't been found, what was still out there? And that fear of kind of the unknown was extremely difficult. And also paradoxically, there was a sense of some very well meaning people saying things like, “Oh well, if they haven't found anything then there can't be too much wrong.” But yeah, I have a child who is tube fed and on multiple different medications, and cared for basically for 24 hours a day, so that doesn't really fit in with the picture of there not being very much wrong from a personal perspective. And I think it can make you as a parent/carer feel perhaps there's a tendency to downplay that there is an issue and that perhaps, you know, you're making it up, for want of a better word, and that sense of isolation around that can certainly be problematic. Celine, if I can come to you, that diagnostic odyssey, what are the common experiences and expectations of parents and patients who undergo that genetic testing from your perspective? Celine: Well, I think sort of parents go into genetics testing for a whole range of reasons really, and Louise has already alluded to many of these. Ones that I've come across in my own work include wanting to know why their child has a particular health problem, so that that child can access the most suitable treatments or therapies, or even access clinical trials. Even relief from guilt for many parents, a validation that the parents hadn't done anything wrong during their pregnancy to cause the child's condition, and that's hugely important really, to try and get that relief from guilt. Also to know whether future children might be affected by the same condition, and then more social reasons really, for example, making contact with other parents through support groups, or access to social and educational support. And I think there's also a drive from many parents to feel that they're doing everything absolutely possible for their child. I mean, particularly with something like the 100,000 Genomes Project, it was really a sort of first of its kind project, where patients were on a significant scale able to access this new whole genome sequencing technology. So, many of the parents taking part in that project felt like pioneers, and there was really a lot of expectations around whole genome sequencing in delivering a diagnosis for those parents who'd previously not been able to get hold of one. Lisa: Yes, I strongly can resonate with a number of the points you made there, particularly the feelings of guilt. I must have asked myself a thousand times whether, you know, something I did do, something I didn't do, something I thought of, something I hadn't thought of [laughter], all those questions that swirl around, particularly in the small hours of the night when you feel particularly alone. And yes, I can completely relate to that. And also although SWAN UK is primarily for children and parent/carers whose children don't have a diagnosis, actually a number of the parent/carers on there will have children with diagnoses that are so very rare that absolutely, you know, very, very little is known. They might be the only parent – the diagnosis, for want of a better word, they may have received may just be a series of kind of numbers and genetic dot-dashes, forgive my layman's terms there, but it may not actually help them any further along in terms of feeling that they know anything further or the direction of, you know, where that will lead their children, and that can feel very, very isolating, I'm sure, probably just as much for those of us who don't have that diagnosis. Louise: Yeah, just to add to that, I think that's absolutely right, Lisa, and I just want to give a shoutout – at SWAN UK, we tend to support families who don't have a diagnosis at all, or, as you say, a small number of families who do but have been part of the SWAN UK family for so long that we're very happy to keep them because of the support they're finding from other parents. We work really closely with another of our members, Unique, who are a charity that support parents in exactly the situation you've talked about, where people have finally got a diagnosis and it's that kind of relief of having a name, but it's a super long name, and you find out you're one of only three families in the world with that diagnosis. And so although there's a real I think comfort for people, perhaps if you have a five year old and you're meeting a family who have a 13 year old and a family of a 19 year old, then you start to see a little bit about how your child might develop, but there's not enough kids affected that you can be really certain about that. So, it gives you a little bit more information, but not the kind of wealth of information you were hoping for about how your child's going to be impacted by a particular condition, and what the future might hold for you and for them. So, SWAN UK and Unique very much work alongside each other to kind of support families on whichever part of that journey they're on, because there's still a huge amount of uncertainty for families with those super rare conditions, as you say. Lisa: Definitely, and I'm sure you'll be familiar, Louise, yourself if you get time to go on the online communities and seeing the question that pops up quite regularly when somebody has received a diagnosis of, “Can we still remain part of the SWAN UK family?” And they very much use that word, family, because I think they do feel that, although all our children are different, there are children with physical, medical, cognitive, a combination of all the above syndromes, conditions, etc, they feel that kind of embrace of all being in a collective club of rare and unique and undiagnosed, and that's very comforting to the members. Louise: Absolutely, yeah, I think that sense of belonging and being able to reach out to other families that you've been on that journey with for many, many years. You know, many of our families join when their children are like one or two, and they're still with us when, you know, their children are 26, 27 [laughter], and that sense of having that community and that family and that belonging is really, really important to people, I agree. It makes a big difference psychologically to be part of a community you can reach out to and ask the questions that perhaps you can't ask to other people. Lisa: Celine, can I ask you how many patients for the 100,000 Genome Project have had a no primary findings diagnosis back? Celine: Well, back in 2021, there was a paper published in the New England Journal of Medicine, which reported that, in the initial pilot for the 100K, a diagnosis was found for around 25 percent of rare disease participants, and other studies looking at the diagnostic yield of whole genome sequencing have put the number anywhere between 25 percent to 55 percent, depending on the clinical indication. And we know that even already from the 100,000 Genomes Project, this pioneering project has led to more than 6,000 diagnoses being identified, and that number will obviously continue to go up as they explore the data and gather new insights. However, that still obviously leaves a significant number that won't get a result from whole genome sequencing, as many as half of those rare disease patients, and that was really the basis of the study that Jana and I worked on. So, we felt that there had been so much research really looking at the experience of parents who do receive a genetic diagnosis, and that a lot of attention rightfully does focus on the amazing successes of the 100,000 Genomes Project and genomic medicine more broadly, but actually that there is a considerable number of patients and parents and families who don't get a result, and we felt that it was important that we also focus on those parents and patients, and try and understand their experiences. Lisa: Yes, you can feel, if your child, for example, is under multiple different care specialists, that it can be quite hard, when you've just got this list of different names of things that are wrong, that you feel very much still out on the limb and forgotten about. But it's clear that, from your work, you're identifying that and pointing that back to the specialists, the consultants, to remind them that these parents and these children are still finding their ways through. Can I ask you, Jana, the study that was conducted, what would you say the main things from that study told us? Can you describe some of the emotions experienced by the parents, and what challenges that they have faced along that receiving the no primary findings diagnosis? Jana: Yes. So, many participants really felt very strong disappointment and sadness on receiving that no result, and for many, it kind of reflected the feelings they had had when they first realised they had a child and there was no diagnosis for their condition. And as Celine said, this was such a new technology that people had invested a lot of hope in, and so many felt that it had been their last chance of finding a reason for their child's condition, and that they'd come to the end of the road with that no primary finding result. And, well, one person described it as another door shut. And people talked about the actual toll taken, the emotional and physical toll, and one person described feeling low for several weeks following the result. And some talked about the timing of the result. Somebody got it as a letter just before Christmas, and so their whole family holiday that they'd prepared was marred by getting that news just before Christmas. And it often seemed to leave parents feeling isolated and unable to contribute to normal parental roles, such as going to parent groups, etc, because they felt that other mothers particularly - as it's mothers we were speaking to, other mothers, their experience of motherhood was so incredibly different to their own, and they felt a lack of support. And one parent actually talked about wanting to lock everyone in the house just to escape the feeling of judgement and pity from outside the front door. And some parents talked about finding it hard when other people would post on support groups that they had got results from the 100,000 Genomes Project, which was very difficult. And some talked about hope as finding it hard to keep hopeful but needing to keep hopeful. So, they talked of hanging onto a little bit of hope, as though that was quite an intense thing, which I think, Celine, you'll agree, that made us able to kind of identify that hope was really part of a coping mechanism for this whole process of going through this diagnostic odyssey. Celine: Yeah, people sort of talked about not wanting to let go of hope and the importance of hope, and that without hope, there was no sense of wanting to continue this journey of trying to find a diagnosis, and that it was still very important to people. And I think that parents did understand that, even though a no primary findings result now, that doesn't necessarily mean that they won't get a diagnosis at some point in the future. So, there's obviously the opportunity to do future reanalysis of the genome, particularly as we understand more about the function of different genes, and as new genes are added to many of the panels that we're using in whole genome sequencing. So, I don't think not finding a result means that there is no hope in these circumstances, but for many parents, they did talk about hope being too painful, and not wanting to be let down again, and really preferred to focus on the here and the now rather than necessarily focus on the future. Lisa: Yes, I can only speak from my own experience here, but I think I primed myself to actually forget about going on the 100,000 genomes sequencing because, having undergone genetic testing for certain conditions that they were quite convinced my daughter had from around the age of four months through to around the age of three years, I'd gone to so many appointments and thought, “Oh, this'll be the time that I turn up and somebody will tell me this is what is the diagnosis.” And when I then joined the 100,000 Genomes Project in 2015 with my husband and my daughter, the genetic experience, the discussions that we had at the time were very helpful in that it was made quite clear to me that potentially we wouldn't get a finding, and actually that any information that did come forward was perhaps unlikely to be hugely beneficial to our family at that point. So, I was quite clear what potential finding would mean to us. But I think in the back of my mind, subconsciously, I had hoped that, when we eventually got a diagnosis, it would – I don't know, bells, whistles, balloons going up, fireworks, etc. And then the experience of a letter thumping on the doormat, and I recognised the postmark quite quickly, and it was at that moment I suddenly thought, “Oh gosh, I haven't buried all these feelings of hope.” Because I opened that letter with quite trembly hands, and then this diagnosis or lack of diagnosis, you know, nothing had been found, and it was a bit… I don't know if it's been described as like a nail in the coffin experience, because I really hadn't realised I was still clinging to this hope all that time, and then again it was, you know, another, “No, nothing's there.” And I think because of the work I've undertaken with SWAN UK as a volunteer, and being quite involved in wanting to sort of educate myself and learn more, I did understand that, even though we had no primary findings, it didn't mean that the study, everything was closed to us. It didn't mean, you know, that things won't still be looked for. But equally, at the same time, it just meant that we had nothing yet to pin anything on at that point. And I think it's quite hard to pick yourself up and dust yourself off again, to be like, “Okay, we're still here, we're still circling that drain,” as it were. I think actually that takes us on quite nicely really, about what role hope has in the experiences of a child with rare and undiagnosed conditions. And again if I can just say that there's hope and there's realism, and somewhere along the way, if you've been on the journey for quite a long period of time like ourselves, you have to try and find a way of living with that hope and realism all at the same time. So, we're still hopeful that one day we might get some answers, but we're realistic that day to day we need to focus on the difficulties or the experiences that my daughter has, so that we can manage to give her the skills to live her life to the very best of her abilities. Certainly, that's our experience. And also I think if I'd let myself dwell forever on not having a diagnosis or a pathway specifically for that, it would have been quite difficult to carry on, pick ourselves up every day. What would you think about the role of hope there, Louise? What would you say your experience is from chatting to fellow parent/carers? Louise: Yeah, I think you've described it really eloquently and better than I'll be able to do, but when we talk to people, the phrase I always have in my head is kind of hope for tomorrow and help for today are the two things that people are looking for. So, making sure that that hope for tomorrow's still there both in terms of, you know, the NHS being really clear that it will provide support for individuals without a diagnosis, and there may be opportunities for reanalysis in the future as science makes future progress. And, you know, there is progress being made so fast at the moment in genomics and that's really welcome. So, making sure that people who've already had whole genome sequencing but not found anything continue to have access to that potential reanalysis I think is really important. As you've rightly said, Lisa, as well, thinking through in terms of hope for tomorrow, the opportunity to take part in clinical trials and to make that as easy as possible where treatments are being delivered, to have the opportunities to take part in trials for non-condition specific treatments, whether that's for epilepsy, which affects people across a whole range of conditions, or sleeplessness, which affects people across a whole range of genetic conditions. You know, there are both trials that only people who have a particular condition can take part in, and trials that are open more broadly, so making sure those opportunities are available as well, so that people have that kind of hope for the future. But alongside that, I think it's really important for the NHS to be clear with people about what help for today will continue to be available, and so we are working really hard with the NHS to emphasise the fact that when no diagnosis is possible, the NHS still needs to be clear to people about how they will be supported, whether that's through the genetics team or a particular discipline, perhaps the one that is the closest fit for their child's biggest need, whatever that may be, that they can still access more joined up care. So, you know, who is the person in the NHS, if you don't have a diagnosis, who's going to help you secure referrals to speech and language therapy, to physiotherapy, to learning disability nurses, and to the package of care that your child may need. Who is the clinician, if you don't have a clear diagnosis, who's going to be the person with the authority and the confidence to lead the multidisciplinary team, maybe up to 30 healthcare professionals who are going to support your child. You know, who is going to be the lead clinician that's going to pull that multidisciplinary team together and make sure that your child's not being prescribed stuff that's contraindicated, or that's going to help one element of their condition but make another element worse. So, we are really trying to work with the NHS to make sure they're thinking through, where will that support be for the family in terms of their healthcare. And alongside that, you know, many wider services like schools or social care or employers welcome the chance to talk to a geneticist or a genetic counsellor or nurse to understand what adjustments they might need to make for someone who clearly has a genetic condition but doesn't have a clear diagnosis. And so we're trying to kind of make sure the NHS is both focused on the kind of science side and making sure that the hope for future findings is there, but also the help side, and making sure that the right package of care is still available for families who clearly have a genetic condition. Lisa: Actually Louise, yeah, you've really summed it up excellently there, and whilst I am hugely grateful to the NHS and the various services, I can say, hand on my heart, my daughter has a huge number of professionals involved, both from the health side of things and social care side of things, and actually the person that kind of holds all that together is myself. And because we're under multiple different teams, every time a new medication, for example, is prescribed, I need to go back to our lead team, which in this case happens to be neuromuscular, and check that, for example, if gastroenterology have prescribed a medication, that it's not contraindicated from a neuromuscular side of things and so forth. It's all a bit like having sort of interlocking parts of a jigsaw, but perhaps no picture to follow [laughter], and that can be quite an isolating experience. And certainly, having chatted to fellow parent/carers, I know that's their experience as well. And I imagine, Celine and Jana, you found sort of similar experiences when conducting the research. Celine: Yeah, so my PhD actually was focusing on the sort of journey for parents as they go through the diagnostic process, and one of the things that came out really strongly from that body of work was how the parents were really carving their own care pathway, how they had to sort of push and fight to access services, but at the same time were the gatekeepers for their child's health. Having to make sure all the various teams and clinicians were kept up to date with all the different tests that they had and all the results. And, you know, at times, this could be really frustrating for a lot of parents, ‘cos they had to keep repeating their story over and over again, particularly ‘cos they didn't have a diagnosis. So, these parents really were having a very different parental experience to many of their friends and family, because their experience of being a parent to a child with an undiagnosed condition was really sort of as being a patient advocate, and as having to push and fight to access services. Lisa: Yeah, it's quite a unique experience. You are the specialist for your own child in that sense, I think would be the way I'd describe it. And I suppose over the years, I've got so used to sort of trotting out different medical explanations in terms that you can almost sound like you know what you're doing [laughter]. And a few times when I've been at medical appointments, and perhaps we've met a new specialist or consultant, they've said, “Oh, what's your field? What's your area of expertise?” And actually you just think, “No, I'm just a specialist in my own child” [laughter]. But that's quite an empowering feeling actually, so I guess that plays back into the feelings around hope and expectation, even with having an undiagnosed child. Lisa:    When I was recruited to the 100,000 Genome Programme, we didn't actually as a family receive genetic counselling specifically, and I know that this is something that is incredibly important to many families, and how that can support you sort of going forward. We were quite lucky in our experience in that we knew that our daughter was definitely going to be our last child, so we didn't have the thoughts and insecurities around potentially what it might mean for any future children that we had. But certainly as my daughter has got older and she's asking her own questions, and our older children are at a stage in life where they're looking at potentially having families in the future, I know that those things have come up, and we're just still exploring what that will mean in the bigger picture. But can you tell us, Jana, really what can genetic counsellors do to help parents feel less isolated and better to cope with the uncertainty surrounding their child's condition? Jana: Yes, well, I'm sorry to hear you didn't have any genetic counselling prior to going on the 100,000 Genomes Project, because that consent conversation right at the beginning, before the whole genome sequencing, is really important. It's important to know what the range of outcomes may be, so that it may be that you might get a result, you might get a variant of uncertain significance, or you might get no result. And parents in our study did suggest that their sense of isolation when they got a no primary finding result would have been alleviated if they'd known how many were not getting results. So I think in the longer run, it's 40 percent perhaps received a result, so that's 60 percent that didn't receive a result, so those parents were not alone, but they felt very alone. And some suggested if they'd just had a leaflet really explaining that, and explaining that they'd still contributed to research and that that had been, you know, a good outcome in a sense, then they would have felt better about it. So, a lot of work can be done before the testing really, to explore how you might feel on that range of results, and then that way sort of prepare parents for how they're going to feel, and perhaps that helps them to have things in place, to know that it might be a vulnerable time with that letter, although that was particular for the 100,000 Genomes Project, to get the result in a letter in that way, and as you described, after such a long time, that you'd been able to forget that you'd been on the project. But to actually be a little bit prepared that it make take its toll on you might actually help with preparing oneself. It also might be helpful to include ways of promoting ways to enhance health and wellbeing for parents in terms of practical support, such as those things that you're already attempting to access, like the respite services, school support, support groups, and thinking about psychological wellbeing and ways of managing stress, psychological support for parents, and possibly spirituality based resources as well. And focusing maybe on what is known about the child's condition even without a diagnosis, so what's likely to be beneficial, and support parents in actively coping, such as what research they might be able to access, and continued medical support. And also actually having a named person within the genetics service, so they have someone to go to for any follow-up that has a name, and so they don't feel isolated from the genetic service. And signposting to those external resources, such as SWAN UK, can be very important as well, of course. Celine: I think it's also really important to add that hope isn't necessarily lost when you don't get a diagnostic result. And in a sense, what can be really helpful is for genetic counsellors to reframe that hope, if you like. So, one thing that we talk about in our paper is that it might be useful for health professionals to ask a question such as, “In light of the new information that we now have from the whole genome sequencing result, what are you hoping for now?” So in a way, it's sort of reframing that hope, sort of giving it a different context. Lisa: Definitely, and I think one of the things as well is that, because potentially for when parents were first recruited to a study such as the 100,000 Genome specifically in this case, that it might be quite a length of time between that initial recruitment and when the actual result comes out. And of course, in that time, with the advances in genetics, it's sort of somewhat of a Pandora's box really, isn't it, in that we're almost kind of finding the information out quicker than we actually know how to process it and what it potentially means. So actually if there's a genetic counsellor available to speak to those parents, or for those parents to be signposted to somebody who can say, “Well look, since you were recruited, actually this is happening, that's happening,” or, “These research projects are happening,” personally, I can say that is going to be really helpful and handy, and would have been really useful. I just know that for myself anyway and my family, that if there was a leaflet or something that had given me a way of knowing how I could contact somebody in the future, that would be really helpful. What ways do genetic counsellors use in maintaining a delicate balance between not creating false hope but also providing meaningful support to parents? What would you say around that, Jana? Jana: I think as we've already touched on, it's that managing expectations from the outset when the test is offered. So, not generating too much hype or excitement, but setting those expectations, giving that information about the diagnostic yield. Also, informing parents that what people do experience has been described as a rollercoaster of emotions. It's normal. You might also want to explore people, not only what they're hoping for, but also the outcomes that they might be fearing, and giving them a chance to voice those, because they can be very powerful things as well. A diagnosis might not be what you want to hear, so there can be a lot of ambivalence around wanting a diagnosis when it might actually be a life limiting condition, that you didn't really want that certainty. And also helping parents to explore how not receiving a result might feel, so that they've actually rehearsed it a little bit, and where they might go to when they need a bit of extra support. So, they already know, “I go and talk to my friends, that's where I get my support from,” so that they're kind of ready for it, and that might help them with that sense of isolation, but also validating these feelings. So, it's okay, it's okay to have that dip, it's okay to feel, that it's something that many people experience. And creating a safe space for people to feel that, so if they want to talk to a professional or a friend, that those feelings are validated. And in that way, kind of with that pre-counselling really, helping parents to develop their own set of resources, so they've got those to draw on. And as you've mentioned, Lisa, it's like having your own resources also helps generate that feeling of empowerment and control. And as Celine has said, it's really facilitating parents through that passage of reframing what you're hoping for, reframing what the future looks like, if you had one picture of a future. You need to become comfortable with the future you're now looking at. Lisa: Thank you, Jana. Louise, if I can ask you really, we've already touched on the role that SWAN UK can play for parents dealing with undiagnosed rare conditions, but perhaps if you could home in on that and explain in more detail the main focus of SWAN UK, and what that can do for parent/carers. Louise: So, what SWAN UK primarily does is bring together parents who are in a similar situation. So, we have a team of amazing parent representatives, who Lisa is one, who help us shape the support that SWAN UK can provide, and really make sure that it's based on a really strong understanding of what it's like to be a parent of a child with an undiagnosed genetic condition, and an understanding of that kind of expertise that parents who have been on that journey themselves will bring. So, we have a series of Facebook groups. Some of them are for different regions, so people come into contact with other parents in their area who are going through similar circumstances. Some of them are more around age. So, you know, we have Facebook groups for parents who are waiting for a diagnosis or have got a new diagnosis, and then we have a group called SWAN Graduates, which is for children who are older and over 18, so their parents can come together and share their experiences. So, it's really to help parents be able to talk to one another, to share their experiences, to support one another, and often to ask for advice. They're often kind of practical questions about, you know, “My child needs this kind of wheelchair, has anybody been able to source that from somewhere?” “My child's having real difficulties eating at the moment, can anyone give some advice on this particular challenge?” “This thing someone else has faced, how did you approach it? Where did you reach out for support?” So, that peer to peer advice and support is really at the heart of SWAN UK. And then what we try and provide around that is access sometimes to information events, where there's particular issues that are affecting a lot of SWAN families. So, we hope over the coming year to have a series of information events targeted at families with children who don't have a diagnosis, and some of it is just trying to have social events and bring people together again. We've had, for example, an active dads group in Wales, who've been bowling and wanted to go axe throwing, and really they just want to come together with other dads who are in the same situation, and being able to talk to one another and provide emotional support to one another. So, that's kind of the nub of SWAN UK and what we do, and then alongside that, that kind of fits in with Genetic Alliance's wider goal, which is much more around campaigning for improved services. So for example, the Genetic Alliance UK team has worked really closely with commissioners in Wales, who actually commissioned the first SWAN clinic, which is in Cardiff. That was a two year pilot, to see what support could be provided both to help SWAN families get a diagnosis, but far beyond that, to make sure that the care for families who don't have a diagnosis is better joined up. And that we feel has been a real success. Again, there hasn't been a really high diagnostic yield, there have been very few new diagnoses, but the support provided to the families who are in contact with that clinic, in terms of helping them access better joined up care both from the NHS and from services more widely, has been brilliant. And we're currently working with NHS England in the UK, who are exploring an opportunity to commission two SWAN clinics in England. So, that trying to kind of improve services, and then the third aspect of that is just working generally with the new genomic medicine service alliances as they emerge across England, to try and make sure they are thinking through what support they will need to continue providing to families who've gone for whole genome sequencing in future, not through a research project like 100,000 Genomes, but just through routine clinical practice and routine clinical diagnostics, what support will they need to provide for families who go through that process and don't get an answer. And that won't change the support they will need from the NHS. It will just mean that perhaps that clinic needs to play a more active role in helping them access those services. So, all of that kind of campaigning to have better services for family who have an undiagnosed genetic condition continues as well. Lisa: So, I think one of the things really just to finish off today, is of course looking at the future. Considering advancements in technology, would you say that future reanalysis of the 100,000 Genome Project is going to yield additional insights? Celine, can I ask you to comment on that? Celine: Yes, absolutely. As we understand more about the role and function of different genes, and as new genes are added to the panels, we will definitely be able to provide a diagnosis for more parents and more families. But I think we don't yet necessarily know exactly what that reanalysis will look like, and it's not really clear yet how this will work in practice. Lisa: And Louise, would you have anything else to add to that at all really? Louise: No, I think it is just that hope for the future and kind of help for today. I think the NHS needs to be equally clear about, you know, there's some amazing investment by the UK government in genomic research, and that's brilliant and we want that to continue, but equally we want the investment to be taking place into routine clinical services and diagnostic services, so that we can talk to people both about the hope of potentially getting a diagnosis in future, but making sure that the help continues to be available for as long as they don't have a diagnosis, and that help for families who don't have a diagnosis is going to be just as important. And what we try to ask for is both real clarity around what the NHS can provide, and really clear signposting to organisations like SWAN for families that continue to not have a diagnosis. And again, just to give an equal shout out to Unique, who are able to support families who have an ultrarare diagnosis, where perhaps they're the only person in the country with that particular diagnosis, or one of a handful of families around the world. Signposting to that peer to peer support will continue to be a really important part of the process as well, so that families can help one another, learn from one another, and just give each other support that they are kind of sharing that same journey and walking alongside one another on that journey as it continues. Lisa: And bringing this podcast to a close, can I just ask you really, any final thoughts, anything that you would sum up from your experience of researching the no primary findings and where we now are today? Celine: I think the main thing for me is just to sort of make it clear to parents that a diagnosis isn't necessarily a magic wand, even though it is obviously very important to a lot of parents. But that even without a diagnosis, we still have the opportunity to manage patients' symptoms, and often a diagnosis doesn't make a substantial difference, because parents are sometimes left with a lot of uncertainties and a lot of unanswered questions. So I think, and as Louise and Jana have said before, it's really sort of on focusing what we do know, and thinking about what we can offer and what support we can provide to parents and families even without a diagnosis. Lisa: Thank you very much to our guests today, Jana Gurasashvili, Celine Lewis and Louise Fish, for joining me as we discussed the impact of a no primary findings result. If you'd like to hear more like this then please subscribe to the G Word on your favourite podcast app. Thank you for listening. I've been your host, Lisa Beaton. This podcast was edited by Mark Kendrick at Ventoux Digital, and produced by Naimah Callachand.    

Luka ist es wichtig, dass es in seiner WG zwischenmenschlich passt. Nach jahrelanger Erfahrung weiß er aber, dass sich nicht alles schon beim WG-Casting klären lässt. Psychologin Barbara Perfahl erklärt, wie wir in der WG mehr Miteinander hinkriegen. **********Ihr hört in der Ab 21:00:50 - Luka hat in zehn WGs überwiegend gute Erfahrungen gemacht10:01 - Psychologin Barbara Perfahl erklärt, wie wir eine gute Dynamik in die WG kriegen**********Mehr zum Thema bei Deutschlandfunk Nova:Mitbewohner gesucht – WG-Casting: Unsere besten StorysWG-Leben: Wie es auch mit Fremden gelingen kannWG-Stress - Wie wir Konflikte lösen**********Den Artikel zum Stück findet ihr hier.**********Ihr könnt uns auch auf diesen Kanälen folgen: Tiktok und Instagram.**********Meldet euch!Ihr könnt das Team von Ab 21 über WhatsApp erreichen.Uns interessiert: Was beschäftigt euch? Habt ihr ein Thema, über das wir unbedingt in der Sendung und im Podcast sprechen sollen?Schickt uns eine Sprachnachricht oder schreibt uns per 0160-91360852 oder an ab21.dlfnova@deutschlandradio.de.Wichtig: Wenn ihr diese Nummer speichert und uns eine Nachricht schickt, akzeptiert ihr unsere Regeln zum Datenschutz und bei WhatsApp die Datenschutzrichtlinien von WhatsApp.

Ein Jahr nach dem Erdbeben leben im Südosten der Türkei noch über 690.000 Menschen in Containern. Wie steht es um den Wiederaufbau? Und: rechtliche Absicherung für WGs

The Winter Summit has come and gone, and this week Michael and Oxie decided to give their thoughts on their favorite parts before being left out in the cold. Do you agree that some segments were too long? Are you beyond excited for WGS and Varlamore? Rat Boss? Join the fellas this week and give us your thoughts!

Join Kriben Govender, a seasoned food scientist and gut health expert, as he sits down with Dr. Brad Leech, a clinical nutritionist with a profound understanding of the microbiome. In this enlightening conversation, they delve into the complex world of gut health and explore how it's intricately linked to our overall well-being. You'll discover: The importance of the microbiome in autoimmune conditions and overall health. The staggering diversity of bacteria within our gut and what it means for us. Lifestyle factors that are diminishing our microbiome diversity. Simple, actionable steps you can take to enrich the diversity of your gut microbiome.  

Blake Harris, CSCP, is a specialist in standards and process enhancement, digital solution development, and implementation, with more than a decade of experience in supply chain-related functions within the private sector and at non-governmental organizations (NGOs). He places high value on tackling complex issues to create efficient and uncomplicated solutions. As the Technical Director at the Institute of Food Technologists' Global Food Traceability Center (IFT's GFTC), his focus centers on enhancing data digitization in food systems, which involves collaborative efforts with a diverse range of stakeholders from industry, government, and NGO sectors. Alison Grantham, Ph.D., is a consultant who brings a rigorous, practical approach to her work with public and private sector organizations to improve the food system. Alison focuses on helping her clients develop data-driven tools and programs to define and achieve goals to enhance food and agriculture. She has worked closely with IFT's Global Food Traceability Center since 2019, developing the Global Dialogue in Seafood Traceability (GDST) standards, among other traceability initiatives. Prior to consulting, she led food systems research and development, and then food procurement, at an $800-million revenue e-commerce food company. Previously, she led Penn State Extension's beginning farmer training program and directed research at the Rodale Institute. Alison currently serves on the Rodale Institute's Board of Directors and the National Academy of Sciences' Committee to advise the U.S. Global Change Research Program, the body that oversees climate and other global change research across the 14 federal agencies. In this episode of Food Safety Matters, we speak with Blake and Allison [35:05] about: IFT traceability experts' observations over the past year regarding industry preparation to comply with FSMA 204 in 2026 Advances in traceability initiatives and technology, especially low-cost/no-cost technologies promoted by FDA, to assist industry compliance Advice for companies that have not made much progress in compliance efforts on how they can get started Advice for companies that have made strides toward assuring compliance on how they can ensure they are on track to fully meet FSMA regulations by January 2026 How worldwide adoption of Global Dialogue on Seafood Traceability (GDST) standards has been facilitated, tools offered to help the seafood industry comply with GDST standards, and how GDST standards are influenced by FSMA 204 Ways in which FSMA 204 compliance will benefit public health and food safety How FSMA 204 can help optimize individual company and entire supply chain operations. News and Resources CDC Study Highlights Restaurant Characteristics Most Associated With Food Cross-Contamination [2:24]Study Shows Potential of Antimicrobial Blue Light for Listeria Inactivation in Food Processing Plants [8:49]WHO Provides Step-by-Step Guide on Use of WGS for Foodborne Illness Surveillance, Response [13:18]FDA Clarifies "In-Shell Product" Definition and Requirements for Shellfish per 2022 Food Code [18:08] IFT Global Food Traceability Center Sponsored by: Wiliot We Want to Hear from You! Please send us your questions and suggestions to podcast@food-safety.com

Ariane hat während ihres Auslandssemesters im spanischen Murcia in einer WG gewohnt. Als ihr Freund für zwei Wochen zu Besuch kam, waren ihre drei Mitbewohnerinnen nicht begeistert. Wie wir mit solch schwierigen Situationen in Wohngemeinschaften besser umgehen können, weiß der Mediator Tilman Bemm.**********Ihr hört in der Ab 21:00:00:52 - Arianes Freund war in der WG nicht willkommen00:10:23 - Tilman Bemm berät WGs in Konflikten**********Den Artikel zum Stück findet ihr hier.**********Ihr könnt uns auch auf diesen Kanälen folgen: Tiktok und Instagram.**********Meldet euch!Ihr könnt das Team von Ab 21 über WhatsApp erreichen.Uns interessiert: Was beschäftigt euch? Habt ihr ein Thema, über das wir unbedingt in der Sendung und im Podcast sprechen sollen?Schickt uns eine Sprachnachricht oder schreibt uns per 0160-91360852 oder an ab21.dlfnova@deutschlandradio.de.Wichtig: Wenn ihr diese Nummer speichert und uns eine Nachricht schickt, akzeptiert ihr unsere Regeln zum Datenschutz und bei WhatsApp die Datenschutzrichtlinien von WhatsApp.

Putzen ist Kulturtechnik, Schwerarbeit, Ritual. Putzen ist eine häufig ungeliebte, zeitraubende Angelegenheit, die noch immer vorwiegend von Frauen, insbesondere Migrantinnen, ausgeübt wird. «Kulturplatz» über eine unsichtbare Tätigkeit, die – anders als Kochen – wohl nie zum Modetrend wird. Wer putzt? Diese Frage lässt tief in eine Gesellschaft blicken. Zu Hause putzen Frauen doppelt so viel wie Männer und als angestellte Putzkräfte sind es ebenfalls meist Frauen sowie Migrantinnen und Migranten. Anerkennung gibt es fürs Saubermachen nur wenig. Die Putzarbeit ist schlecht oder gar nicht bezahlt. Dass Putzen ein relevantes gesellschaftspolitisches Thema ist, findet auch das Frauenmuseum im österreichischen Hittisau. In der Ausstellung «Blitzblank!» erforscht das Museum die Rollenbilder, die mit dem Putzen verbunden sind und rückt in den Fokus, was häufig im Verborgenen stattfindet. Das machen auch das Wiener Künstlerduo «Honey & Bunny». Pointiert und witzig beschäftigen sich Sonja Stummerer und Martin Hablesreiter in einer dokumentarischen Kunstperformance mit der Kulturtechnik des Putzens. Dabei hoffen sie, dass Saubermachen einmal zum Lifestyle-Event werden könnte. Auf Instagram und Co. finden derweil sogenannte «Cleanfluencer», dass Putzen das Wohlbefinden steigern kann. Putzen soll happy machen: Spätestens seit der Wirtschaftswunderzeit ist das das trügerische Versprechen der Putzwerbung. Glücklich macht Putzen wohl nur jene, die wirklich freiwillig den Staubwedel schwingen. Wo viele Menschen zusammen auf kleinem Raum leben, herrscht immer Reinigungsstress: In sieben Wohnungen organisiert und mit 30 Mitbewohnenden ist die Wohneinheit 1 der Wohnbau-Genossenschaft Giebel in Bern eine Art Riesen-WG. Neben Zweizimmerwohnungen gibt es hier WGs und Familien-Wohnungen, das Haus wird gemeinschaftlich selbst verwaltet. Haussitzungen helfen beim Organisieren. Grosses Thema stets: das Putzen. Wer putzt den Eingang, wer den Korridor? Wieso braucht es immer eine gute Fee, die alles zusammenhält und wer organisiert den Industriekletterer, der jedes Jahr einmal die Scheibe des verglasten Treppenhauses reinigt? Jede Wohneinheit organisiert sich wiederum selber. Braucht es einen Ämtliplan oder nicht? Wieso weiss der neue Mitbewohner nach vier Monaten noch nicht, wo der Staubsauger untergebracht ist? Eine Reportage über gemeinschaftliches Putzen und darüber, an wem es immer hängen bleibt. Für Heldengeschichten eigneten sich Reinigungskräfte lange nicht, wie die Filmgeschichte zeigt. Wer putzt, dem gebührte im Kino die Nebenrolle. Höchstens als Camouflage sind Putzwagen und Overall insbesondere in Heist-Filmen seit Jahrzehnten ein Klassiker – abgestaubt wird nicht das Bücherregal, sondern der millionenschwere Diamant-Klunker. Doch nun scheint ein Umdenken im Gang zu sein. Die Unterhaltungsindustrie antizipiert die anhaltende Gesellschaftsdebatte über soziale Ungerechtigkeit und Gleichstellung in Filmen und Serien und stellt die Putzhilfe ins pralle Scheinwerferlicht.

#91 It's a WG Match mit Johannes Bader von heyroomHeyroom entstand aus einer Herzensangelegenheit, gezeugt in den Gedanken von Johannes in seiner Münchner WG-Küche. Seine Vision teilte er mit Hans und Fabian, engen Vertrauten aus privaten und beruflichen Kreisen. Mit Kilian und Anna, langjährigen Weggefährten, die ebenso wie er in den Münchner WG's ihre Zeit verbracht haben und mit ihrem Marketing-Know-how ausgestattet sind, bildete sich ein nahezu perfektes Team. Und durch ihr Netzwerk gelang es ihnen auch, die befreundeten Tech-Genies Philipp und Tuan für ihre Sache zu gewinnen.Doch dies hier ist mehr als nur ein gewöhnliches Startup. Es ist ein Projekt, das von tiefster Leidenschaft durchdrungen ist, eine Gemeinschaft, die von jedem Einzelnen von ihnen getragen wird. Ihre Ecken und Kanten machen sie aus, sie kommunizieren intensiv miteinander und die größte Freude empfinden sie, wenn sie vereint sind. Jeder wird in seiner Einzigartigkeit respektiert.Ihre Hingabe, heyroom optimal zu gestalten, ist ungebrochen. Doch sie sind sich bewusst, dass sie die Unterstützung jeder WG in München benötigen, um wirklich etwas zu bewegen. In diesem Sinne bitten sie darum, ihre Beiträge in den sozialen Medien zu liken und sie an Freunde weiterzugeben – im Kollektiv können sie jene WG's erschaffen, die sie zurecht verdienen, und das Bild des WG-Lebens nachhaltig transformieren. Aus eigener Erfahrung wissen sie, wie wunderbar das WG-Leben sein kann, doch sie kennen auch den Schmerz, ständig nach neuen Mitbewohner*innen suchen zu müssen und in WGs zu verweilen, in denen der richtige Vibe einfach fehlt. Deshalb war die Gründung von heyroom für sie die logische Konsequenz: Jetzt sind sie hier, um etwas zu verändern. Get bonus content on Patreon Hosted on Acast. See acast.com/privacy for more information.

Über 1000 Stücke in gerade einmal 31 Jahren, darunter ein Banger nach dem anderen. Franz Schubert hätte der bekannteste Komponist seiner Zeit werden können. Hätte er nicht im Schatten eines gewissen Ludwig van Beethoven gestanden. Eine Komponisten-Spezialfolge über WGs und Wanderlust, Geschlechtskrankheiten und Geschrei.

Sie wohnt im Wohnheim und liebt es. Sara sagt, warum. Putzplan und verschiedene Lebensrhythmen: die Streitthemen in WGs kennt auch Psychotherapeut Matic Rozman und hat Tipps, wie man sich annähert.**********Ihr hört in der Ab 21:00:01:22 - Sara lebt im privaten Studierendenwohnheim und möchte es nicht eintauschen00:09:56 - Straßen-Umfrage: Eure Erfahrungen mit Zweck-WGs00:11:09 - Matic Rozman, psychologischer Psychotherapeut beim Studierendenwerk in Freiburg**********Mehr zum Thema bei Deutschlandfunk Nova:WG als Langzeitkonzept: Zwei Paare, ein HausStadtleben und Krach: Lärm – mehr als ein GeräuschAnders Wohnen: Studierende bauen ihr Wohnheim selbst**********Den Artikel zum Stück findet ihr hier.**********Ihr könnt uns auch auf diesen Kanälen folgen: Tiktok und Instagram.**********Meldet euch!Ihr könnt das Team von Ab 21 über WhatsApp erreichen.Uns interessiert: Was beschäftigt euch? Habt ihr ein Thema, über das wir unbedingt in der Sendung und im Podcast sprechen sollen?Schickt uns eine Sprachnachricht oder schreibt uns per 0160-91360852 oder an ab21.dlfnova@deutschlandradio.de.Wichtig: Wenn ihr diese Nummer speichert und uns eine Nachricht schickt, akzeptiert ihr unsere Regeln zum Datenschutz und bei WhatsApp die Datenschutzrichtlinien von WhatsApp.

The Drew Barrymore Show is back in production amid the writer's strike. Many are mad! Fair or not, Dodger Stadium has earned a reputation for fan brawls. Is it really safe? Shipping containers at US-Mexico border converted to Arizona homes.

So wirbt der Dresdner Verein „Altwerden in Gemeinschaft“ für „WGs“ im höheren Lebensalter. Das Interesse daran ist groß, denn immer mehr Menschen fragen sich, was passieren wird, wenn sie Hilfe brauchen, vor allem dann, wenn sie allein sind.Von Ingeborg Breuerwww.deutschlandfunkkultur.de, Das FeatureDirekter Link zur Audiodatei

If you are unaware the WGS and SAG-AFTRA (Writers Guild of America and the Screen Actors Guild / American Federation of Television and Radio Artists) are currently on strike. This is my attempt to break down why we are striking, how we are striking, and what we can do to help writers, actors, and everyone else that works within the entertainment industry affected by the strikes. *PLEASE BE AWARE, IN THIS EPISODE I DISCUSS MY OPINIONS THAT IN NO WAY REFLECT THE STANCE OF EITHER UNION, SOME INFORMATION MAY HAVE CHANGED SINCE THE RECORDING OF THIS EPISODE* Please feel free to link any information that may have been inaccurate and I will update this video to reflect current changes. As of 7/31/23, this is the Voice Over Department's current statement regarding the Interactive Agreement: "The Interactive agreement extension continues and we go back into negotiations in September. We will have more information once we finish up as to what the next steps are for the contract! Voiceover Department" Become a Paid Subscriber on Spotify: https://podcasters.spotify.com/pod/show/poxpodcast/subscribe* For 15% OFF your subscription to Voice123 visit: *https://www.Voice123.com/plans/pox ----------------------------------- Please subscribe and follow us on all social media and enable notifications on all podcast platforms! https://www.PointsofeXperiencePodcast.com ----------------------------------- Questions? Email info@pointsofexperiencepodcast.com Instagram: https://www.Instagram.com/PoXPodcast Twitter: https://www.Twitter.com/PoXPodcast Facebook: https://www.Facebook.com/PoxPodcast TikTok: https://www.TikTok.com/@PointsofeXperience ---------------------------------------- Original Music by: SkaneMusic - https://www.instagram.com/skane.music/1 Edited by: Keith "Neku" Lawson - https://twitter.com/OzmaNeku

This isn't just business, it's personal! On a very special episode of the In Love with the Process Podcast, writer and comedian Eliot Glazer (NEW GIRL, BROAD CITY, iCARLEY) joins host Mike Pecci in a deep, uncensored conversation about the state of our industry and why the creatives behind movies and television are on strike. The two go deep into the reason why the writers are striking against the studios and how we all need to change our perspective on how we work with other people. **We here at ILWP support our brothers and sisters at the WGS, DGA, and SAG. This episode in no way is promoting any projects...we are just helping to shed light on what is actually going on.** --------------------------------- Go to inlovewiththeprocess.com to see trailers and clips! ►Eliot's IMDB: https://www.imdb.com/name/nm2513282/ ► Eliot's Instagram: https://www.instagram.com/eliotglazer/ ►Mike Pecci's IG: instagram.com/mikepecci ►ILWP's IG: instagram.com/inlovewiththeprocesspod -------------> Featuring Music from: ►Code Elektro The Episode is Sponsored by ► bokehrentals.com/ ► Puget Systems: puget.systems/go/ILWTP ► Fotodiox: fotodioxpro.com/ ► FujiFilm: fujifilm-x.com/ ► FujiFilm Shop: bit.ly/3Q2zTHw ► FujiFilm Refurb: bit.ly/3I9NLh4 ► FujiFilmX-H2S: bit.ly/3i22hN5

In den WGs dieser Welt passieren die lustigsten Dinge! Deshalb geht es genau darum heute im Blue Moon. Malte Völz will von euch wissen: Was war euer bestes WG-Erlebnis? Und: Wer musste die Plantage im Wohnzimmer, den Müllberg in der Küche und das Freibad im Gemeinschaftsbad immer putzen?

Von bis 20:48- 22:58 geht es um das Thema Suizid. Nachts singt jemand lauthals Gebete, man übt zusammen knutschen, teilt sich Handtücher oder aber wurde total getäuscht - das alles kann in WGs passieren. Ihr habt mit euren prägendsten WG-Erfahrungen bei mir im Studio angerufen. Egal, ob witziges Erlebnis, emotionaler, schöner, erschütternder oder sogar schrecklicher Moment - es ist alles dabei. Das ist nämlich eine ganz besondere Folge: Ich sitze wieder im Studio und warte, bis das Telefon klingelt, jemand von euch sich meldet und mir von seiner/ ihrer prägendsten WG-Erfahrung erzählt. Aber ich will nicht nur mit euch lachen, mich wundern oder leiden, sondern auch herausfinden: Wie verändern Wohngemeinschaften unser Leben und was nehmen wir mit aus dieser Zeit? Wenn ihr einen Themenvorschlag für die nächste Call-In Sendung habt oder eure Geschichte bei uns erzählen wollt, dann meldet euch doch gerne per Insta @diefrage_offiziell oder über Whatsapp unter der Nummer 0174/2745065. Zum Podcast "TABULARASA - weg mit Tabus" geht´s hier: https://www.ardaudiothek.de/sendung/tabularasa-weg-mit-tabus/10583287/

Brace yourselves, it's Space Symposium week! Wet dress rehearsal for Starship. UK launches the International Bilateral Fund. Orbit Fab gets a series A round. Boeing announces their anti-jam payload for WGS. The FAA wants to balance air travel and space travel. Our interview with Steve Luczynski, Board Chair of the Aerospace Village, on their mission, programs, and upcoming activities at the RSA Conference next week. All this and more. Remember to leave us a 5-star rating and review in your favorite podcast app. Miss an episode? Sign-up for our weekly intelligence briefing, Signals and Space, and you'll never miss a beat. T-Minus Guest Our featured guest is Steve Luczynski, Board Chair of the Aerospace Village, on the Aerospace Village nonprofit, their mission, their programs, and their upcoming activities at the RSA Conference next week. You can follow Steve on LinkedIn and Twitter. Selected Reading SpaceX's launch of Starship could remake space exploration | Washington Post  UK Space Agency funding for international space partnerships | GOV.UK.  SpaceX launches seventh Transporter rideshare mission | SpaceNews Exolaunch's 21 rideshare smallsats deployed during the SpaceX Transporter-7 mission | SatNews HawkEye 360's nexgen Cluster 7 smallsats are successfully launched | SatNews    TrustPoint Announces Launch of First Commercially-Funded, Purpose-Built PNT Microsatellite | Business Wire  China claims its Space Station has achieved 100% oxygen regeneration in orbit | Interesting Engineering  Boeing Unveils Anti-Jam Payload For Next Space Force Wideband Global SATCOM Satellite | Via Satellite As counterspace weapons ‘proliferate,' the new cold war for space races forward: studies | Breaking Defense The Moon is the Best Place to Transport Rocket Fuel | Universe Today  US aviation authorities may delay some space launches to avoid air traffic disruption | Reuters  NASA launches stadium-sized balloon from New Zealand | SpaceConnect   Audience Survey We want to hear from you! Please complete our wicked fast 4 question survey. It'll help us get better and deliver you the most mission-critical space intel every day. Want to hear your company in the show? You too can reach the most influential leaders in the industry. Here's a link to our media kit. Contact us at space@n2k.com to request more info about sponsoring T-Minus. Want to join us for an interview? Please send your interview pitch to space-editor@n2k.com and include your name, affiliation, and topic proposal, and our editor will get back to you for scheduling. T-Minus is a production of N2K Networks, your source for strategic workforce intelligence. © 2023 N2K Networks, Inc.

Brace yourselves, it's Space Symposium week! Wet dress rehearsal for Starship. UK launches the International Bilateral Fund. Orbit Fab gets a series A round. Boeing announces their anti-jam payload for WGS. The FAA wants to balance air travel and space travel. Our interview with Steve Luczynski, Board Chair of the Aerospace Village, on their mission, programs, and upcoming activities at the RSA Conference next week. All this and more. Remember to leave us a 5-star rating and review in your favorite podcast app. Miss an episode? Sign-up for our weekly intelligence briefing, Signals and Space, and you'll never miss a beat. T-Minus Guest Our featured guest is Steve Luczynski, Board Chair of the Aerospace Village, on the Aerospace Village nonprofit, their mission, their programs, and their upcoming activities at the RSA Conference next week. You can follow Steve on LinkedIn and Twitter. Selected Reading SpaceX's launch of Starship could remake space exploration | Washington Post  UK Space Agency funding for international space partnerships | GOV.UK.  SpaceX launches seventh Transporter rideshare mission | SpaceNews Exolaunch's 21 rideshare smallsats deployed during the SpaceX Transporter-7 mission | SatNews HawkEye 360's nexgen Cluster 7 smallsats are successfully launched | SatNews    TrustPoint Announces Launch of First Commercially-Funded, Purpose-Built PNT Microsatellite | Business Wire  China claims its Space Station has achieved 100% oxygen regeneration in orbit | Interesting Engineering  Boeing Unveils Anti-Jam Payload For Next Space Force Wideband Global SATCOM Satellite | Via Satellite As counterspace weapons ‘proliferate,' the new cold war for space races forward: studies | Breaking Defense The Moon is the Best Place to Transport Rocket Fuel | Universe Today  US aviation authorities may delay some space launches to avoid air traffic disruption | Reuters  NASA launches stadium-sized balloon from New Zealand | SpaceConnect   Audience Survey We want to hear from you! Please complete our wicked fast 4 question survey. It'll help us get better and deliver you the most mission-critical space intel every day. Want to hear your company in the show? You too can reach the most influential leaders in the industry. Here's a link to our media kit. Contact us at space@n2k.com to request more info about sponsoring T-Minus. Want to join us for an interview? Please send your interview pitch to space-editor@n2k.com and include your name, affiliation, and topic proposal, and our editor will get back to you for scheduling. T-Minus is a production of N2K Networks, your source for strategic workforce intelligence. © 2023 N2K Networks, Inc. Learn more about your ad choices. Visit megaphone.fm/adchoices

Aufgrund des Streiks der Eisenbahn- und Verkehrsgewerkschaft (EVG) und der Gewerkschaft ver.di steht der Nah- und Fernverkehr landesweit fast vollständig still, auch an Flughäfen, Häfen und den Autobahnen wird teilweise der Betrieb eingestellt. Gleichzeitig gehen die Tarifverhandlungen für die Beschäftigten des öffentlichen Dienstes bei Bund und Kommunen in die dritte Runde. Zacharias Zacharakis, Wirtschaftsredakteur bei ZEIT ONLINE, erklärt, wieso der Großstreik gerade jetzt stattfindet, und schätzt ein, ob es im Tarifstreit zeitnah zu einer Einigung kommen wird. Mit der Verantwortungsgemeinschaft will die Ampel-Koalition das Familienrecht revolutionieren. Alternative Lebensmodelle abseits der Ehe, etwa für Alte, Alleinerziehende, Freunde oder WGs, sollen rechtlich abgesichert werden. Lisa Caspari, Politikredakteurin bei ZEIT ONLINE, erklärt, welche Ideen es für die genaue Ausgestaltung des Reformprojekts gibt und warum es in der Kritik steht. Und sonst so? Arbeitnehmerinnen und Arbeitnehmer müssen trotz Streik im Nah- und Fernverkehr zur Arbeit kommen. Moderation und Produktion: Roland Jodin Mitarbeit: Mathias Peer und Paulina Kraft Fragen, Kritik, Anregungen? Sie erreichen uns unter wasjetzt@zeit.de. Weitere Links zur Folge: - Streik im Nah- und Fernverkehr: Ver.di-Chef verteidigt anstehenden Streiktag (https://www.zeit.de/wirtschaft/2023-03/verdi-evg-streik-frank-werneke-fahrrad-arbeit) - Frank Werneke: "Es entsteht ein neues Selbstbewusstsein" (https://www.zeit.de/2023/13/frank-werneke-verdi-gewerkschaft-streiks) - Verantwortungsgemeinschaft: Floppt die Wahlverwandtschaft? (https://www.zeit.de/politik/deutschland/2023-03/verantwortungsgemeinschaft-ampel-koalition-wgs-alleinerziehende)

Martin Wiedmann, Ph.D., D.V.M, is the Gellert Family Professor of Food Safety at Cornell University. He received a veterinary degree and a doctorate in veterinary medicine from the Ludwig-Maximilian University of Munich, and a Ph.D. in Food Science from Cornell University. His research interests focus on farm-to-table microbial food safety and quality and the application of molecular tools to study the transmission of foodborne pathogens and spoilage organisms, including translation of the associated research findings into reducing foodborne illnesses and food spoilage. His team is passionate about communicating research and research findings to a range of audiences from pre-K to industry leaders, and is regularly asked to help industry with a range of microbial food safety and quality challenges. Students and staff that were previously associated with his team have pursued successful careers in a range of environments, including industry, government, academia, and nonprofits. Dr. Wiedmann has received numerous awards for his work and is a Fellow of the American Association for the Advancement of Science (AAAS), a Fellow of the Institute of Food Technologists (IFT), a Fellow of the American Academy of Microbiology (AAM), and a member of the International Academy of Food Science and Technology. In this episode of Food Safety Matters, we speak with Dr. Wiedmann [31:55] about: ·         His work to expand knowledge about Listeria monocytogenes and Salmonella in several areas, and how whole genome sequencing (WGS) aids his research ·         The importance of refining target serotypes in light of the U.S. Department of Agriculture's Food Safety and Inspection Service's (USDA's FSIS') proposed regulatory framework for reducing Salmonella illnesses from poultry ·         Efforts of the New York State Integrated Food Safety Center of Excellence, where Dr. Wiedmann is the co-director, to strengthen foodborne illness surveillance through collaboration with local health departments ·         Opportunities for collaborations between the U.S. Food and Drug Administration (FDA) and state agencies, such as expanding root-cause analysis to consider earlier stages in the food chain ·         How the COVID-19 food safety response team that Dr. Wiedmann led through Cornell University assisted the food industry through education, and consequences of the pandemic that industry is now tackling ·         The nuances of determining a pathogen to be an “adulterant,” such as Salmonella in poultry, which is being considered by FSIS ·         How WGS aids more accurate pathogen identification, and WGS' effect on the taxonomy of bacteria ·         Why Dr. Wiedmann sees novel proteins, Bacillus cereus, biofilm, and refining food safety regulation as significant areas of concern for food safety. News and Resources FDA Gives Update on Human Foods Program Restructuring, Announces Search for Deputy Commissioner; Stakeholders Express Concern [3:39]FDA Draft Guidance for Naming, Labeling of Plant-Based Milk Alternatives [15:31]Researchers Aim to Make Cured Meat Safer with “No Nitrite-Added” Curing Process [21:03]FDA, New York Sign Domestic Mutual Reliance Partnership Agreement [23:24] Food Safety Matters Ep. 112. Rogers, Mettler, Waller: FDA and Utah on an Integrated Workforce through Mutual Reliance FDA Foods Program Publishes List of Priority Guidances for 2023 [24:14]IAFP Executive Director David Tharp to Retire [26:43]IFPA Chief Food Safety Officer Dr. Jennifer McEntire Steps Down [27:47] Food Safety Matters Ep. 111. Jennifer McEntire: IFPA—The New Voice of ProduceTheme of World Food Safety Day 2023: “Food Standards Save Lives” [28:42] FAO, WHO Report on Food Safety of Water Reuse in Dairy Industry Publisher's Platform: Twenty-eight minutes with FDA Commissioner Califf Food Safety Summit 2023Register for the 2023 Food Safety Summit with discount code FSM23Podcast for 10% off! We Want to Hear from You! Please send us your questions and suggestions to podcast@food-safety.com

We are thrilled to have Dr. Stephen Kingsmore, a dedicated physician, researcher, an inventor, and who is the currently the President/CEO of Rady Children's Institute for Genomic Medicine in San Diego, California.  In this podcast, you will not only learn what drives Dr. Kingsmore's purpose to improve the lives of newborns and to prevent avoidable and unnecessary deaths due to late diagnosis of rare genetic condition, but also his challenges in clinical practice and research in making his dream of a learning healthcare system using genomic medicine a reality globally.  Among his achievements, Dr. Kingsmore pioneered the development of ultra-rapid Whole Genome Sequencing to decode rare disease in newborns. In 2021, he led the RCIGM team to break his own world speed record by achieving diagnosis via WGS in 13.5 hours. Dr. Kingsmore came to Rady Children's in 2015 from Children's Mercy Kansas City, where he was the Executive Director of Medical Panomics. He previously served as President and CEO of the National Center for Genome Resources; COO of Molecular Staging Inc.; Vice President of Research at CuraGen Corporation; founder of GatorGen; and Assistant Professor at the University of Florida's School of Medicine. Dr. Kingsmore received MB, ChB, BAO and DSc degrees from the Queen's University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists.  Learn from Dr. Kingsmore how to work through the challenges in research and clinical practice in advancing newborn screening research.   Podcast Interview Questions   Thank you, Dr. Kingsmore, for being a guest on the NBSTRN podcast, NBS SPOTlight. We are excited to speak with you today! Dr. Kingsmore, you are currently the President/CEO of Rady Children's Institute for Genomic Medicine, where you lead a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically ill newborns. How did your interest in rare disease research lead you to San Diego? Many of us remember specific milestones you and your team have accomplished and your calls to action have inspired stakeholders across the NBS community. During your presentation at our NBS Research Summit in 2021 you spoke about “NBS and Rapid Whole Genome Sequencing (rWGS) for Severe Infant Onset Genetic Diseases". Most recently, you were a part of the International Conference on Newborn Sequencing (ICoNS) in augural meeting where you joined researchers from across the world to share information about newborn sequencing initiatives. What were the major takeaways from that meeting, and what should the NBS Research Community be aware of? You recently published that your team has developed a “Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.” Up to eighty-one genetic diseases are included in screening, thirty-six of which are recommended for NBS by a federal advisory committee known as the Recommended Uniform Screening Panel. As you know, there are more than 7,000 rare genetic diseases (RD) that affect 6-8% of the US population or about 30 million Americans. Addition to the RUSP is a lengthy process.  What are your thoughts on how the use of genome sequencing using dried blood spots to identify rare diseases could change the landscape of newborn screening policy when we currently adopt one condition at a time and the nationwide implementation can take years? We appreciate your contribution to the American Journal of Medical Genetics Special Issue on Newborn Screening Research, where Dr. Amy Brower and Dr. Kee Chan were co-editors of this issue. Your article on the “Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey” highlights the BeginNGS, a consortium in collaboration with academia, pharmaceuticals, biotechnology and non-profit organization to provide a platform for implementing whole-genome sequencing for newborn screening, disease management and interventions, and rare disease drug development for use by partners around the world. Could you share the work in progress as of now? If we were to implement whole-genome sequencing for newborn screening globally one day, how do you envision long-term follow-up of management of care for the patient and families, including medical, non-medical, psychological services, education, and other related services to improve the quality of life to be supported? You received your medical training from the Queen's University of Belfast in Ireland. You trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. You are also a fellow of the Royal College of Pathologists. What sparked your interest in newborn screening? You have such a long history of successes and accomplishments that have global impact on health care and public health. In March of 2015, you surpassed your previous record in genetic sequencing by reducing the process to 26 hours, which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world. Now, I think your team has reduced the time again.  On the flip side of the coin, would you mind sharing your biggest challenge —and what did you learn from that experience?  What's your biggest challenge in your research right now, and how are you tackling it? How could NBSTRN data tools and resources assist you? What does NBS research mean to you?

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia's NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children's Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored)If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)I've enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.

https://302.buzz/PM-WhatAreYourThoughtsThe medical world is accomplishing great things; for example - Rapid Whole Genome Sequencing. A cutting-edge concept that has cut diagnoses of rare diseases from weeks and months to days and hours. It's called Project Baby Deer and it's focused on implementing evidence-based precision medicine and pediatrics to facilitate rapid whole genome sequencing for sick inpatients, neonates and children across the state. The project was born out of a collaboration between Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury. Your host, Dr. Lia Gaggino talks with these 3 clinicians about this groundbreaking initiative that is helping to provide better care for children across the state. If you know someone who is in medical school, you'll need to share this episode with them. [00:33 -28:07] Intros / What is Rapid Whole Genome Sequencing?Michigan's “Baby Deer” project was designed after California's “Baby Bear” project.The genetic code is made up of billions of adenine (A), cytosine (C), guanine (G) and thymine (T)Variations in the code is what makes us unique. In the past, sequencing was expensive and slow, but technology has made it faster and cheaper.Entire genetic code can be sequenced in hours with accurate results.[28:08- 35:40] Benefits of Genetic Testing for Children Genetic testing can provide important information about a child's risk of developing a particular health condition in the future.Genetic testing is faster and cheaper than ever before.Genetic testing can help reduce the cost of care by providing more accurate diagnoses and treatments. It can also help identify inherited traits and conditions that could affect a child's health.Knowing the cause of a medical issue helps make better decisions on how to treat it[35:41 -46:04] The Benefits of CollaborationBronson and DeVos hospitals collaborated to develop a comprehensive consent process, as well as a system for sharing and analyzing the data.The two hospitals have also developed a system for follow-up care, ensuring that any positive results are followed up on and that any negative results are discussed with the family. The collaboration between Bronson and DeVos has made rapid WGS accessible to more families and has helped to improve the quality of care for those families.Although the cost is a main barrier to expansion, the collaboration between the two hospitals will provide rapid WGS to patients in need.[46:05 - 1:02:49] What is Rare Disease Day? Rare Disease Day is the last day of February, the rarest day of the year.It is a day to raise awareness and hope for the 300 million people worldwide who live with a rare disease.It is a day to highlight the need for research, support, and advocacy for these diseases.It has been happening every year since 2008.[1:02:50 - 1:08:48] Closing segment Takeaway.You can reach Dr. Joseph FakhouryFacebook: Joe Fakhoury | FacebookInstagram: @jfakhoury.515LinkedIn:

13 February 2023. We speak to regional IMF head and WGS attendee Jihad Azour about what the region needs to do to prepare against inflation. Plus, as UAE healthcare group Burjeel reported over 50 per cent jump in annual net profit - we spoke to Dr. Shamsheer Vayalil, Chairman and Founder of the company about the numbers. And, flying taxis in Dubai could be seen in our skies very soon. Ahmed Behrozyan, CEO of RTA joined us to explain the latest development in air taxis.   See omnystudio.com/listener for privacy information.

Listen in while Alicia talks to you about the new that is coming to WGS & encourages you as well!!!

If there's one genetics podcast episode to listen to this year, it's this one. In the final episode of The Genetics Podcast for 2022, we're joined by Dr Veera Rajagopal, who is known as the ‘GWAS storyteller' on Twitter for his prolific threads breaking down the latest findings in genetics. Join Patrick and Veera as they review the most exciting stories in genetics this year, from the impact the bubonic plague has had on human evolution and our modern day lives, to looking forward and celebrating more diverse, representative populations in genetics research. For those interested in doing further reading, Veera has kindly provided links to all the papers he references during this podcast episode, and we encourage you to follow him on Twitter @doctorveera and substack (https://gwasstories.substack.com/) for regular posts on the latest in genetics and genomics. Links to the papers discussed in the episode: Mind blowing genetics Natural selection in humans at speed never seen before – black death story (https://www.nature.com/articles/s41586-022-05349-x) Hypermutated human genomes - first glimpse into the genetic and environmental factors that accelerate germline mutation rates (https://www.nature.com/articles/s41586-022-04712-2) A new monogenic cause for obesity--a structural variant that causes a skin specific gene to express in every cell of the body (https://www.nature.com/articles/s42255-022-00703-9) Milestone achievements Remarkable moment in the human genetics—saturated GWAS of height in 5.4 million individuals (https://www.nature.com/articles/s41586-022-05275-y) Looking beyond “exomes” – first population scale WGS study in the UK Biobank—what to expect as move from exomes to genomes? (https://www.nature.com/articles/s41586-022-04965-x) Proteomics at scale—another successful industry-UKB Biobank collaboration to establish world's largest proteomics resource (https://www.biorxiv.org/content/10.1101/2022.06.17.496443v1) A step in the right direction 150,000 exomes from Mexico - first large scale exome database for a non-European population (https://www.biorxiv.org/content/10.1101/2022.06.26.495014v1) First glimpse into the genetics of age of onset T2D in Indian population (https://www.biorxiv.org/content/10.1101/2022.09.14.508063v1) Shedding more lights on the PRS barriers to non-European ancestry (https://www.nature.com/articles/s41591-022-01835-x)

Wie wollen wir wohnen? Diese Frage beschäftigt immer mehr Menschen, auch angesichts steigender Mieten und der Single-Gesellschaft. Alternative Modelle sind im Kommen: Gemeinschaftsprojekte, Mehrgenerationen-Häuser, WGs für Jung und Alt. Moderation: Katrin Heisewww.deutschlandfunkkultur.de, Im GesprächDirekter Link zur Audiodatei

Wie wollen wir wohnen? Diese Frage beschäftigt immer mehr Menschen, auch angesichts steigender Mieten und der Single-Gesellschaft. Alternative Modelle sind im Kommen: Gemeinschaftsprojekte, Mehrgenerationen-Häuser, WGs für Jung und Alt. Moderation: Katrin Heisewww.deutschlandfunkkultur.de, Im GesprächDirekter Link zur Audiodatei

Giulia hat in einem Parkhaus in Frankreich eine Schlägerei provoziert, während Chris sich unfreiwillig mit 4 vegetarischen Pita auseinandersetzen musste. Warum Kinder in WGs leben sollten, Apéro nur alleine Spaß macht und Pullover nicht mehr als ein Geflecht aus vielen Fusseln sind, wird auch geklärt. Bonne Chance!Giulia auf InstagramChris auf Instagram Hosted on Acast. See acast.com/privacy for more information.

Overview: This podcast will explore the utility of whole genome sequencing (WGS) in the context of hospital epidemiology of infection prevention, including recent evidence showcasing success in identifying and/or determining the nidus of a cluster or outbreak. The speakers will explain how they have or are planning to use WGS and the interplay between those performing or studying WGS and clinicians/infection prevention staff. Advantages, challenges, limitations, and research gaps will be addressed as well as what the speakers envision for the future. Speakers: Deena R. Altman, MD, MS Alexander Sundermann, DrPH, CIC, FAPIC Chad Nix, MSc, CIC (moderator)

And bonuses are back, that's according to a new CEO survey from Cooper Fitch. We speak to Managing Partner, Jack Khabbaz. Plus, the World Government Summit is taking place, asking the big questions - such as what is next for Aviation? Tackling that on their stage and on the Business Breakfast this morning is CNN anchor Richard Quest. And, the big winner at the Oscar's, Sci-fi epic Dune, was filmed in the Abu Dhabi desert. What does this mean for the UAE? We catch up with Abu Dhabi Film Commissioner Hans Fraiken. See omnystudio.com/listener for privacy information.

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.On This Episode We Discuss:The difference between WES and WGSHow WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expectingSituations in which trio testing is helpful for WGSPrenatal WGSThe future of newborn screeningWGS for hereditary cancer syndromesHow people learn more about PerkinElmer's WGSLearn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn.Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host's posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira's textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we'll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics' PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture's PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics' interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED)Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)Polygenic risk scores (or PRS) are a powerful way to identify an individual's risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer's disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica' interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)

Caroline Light is a Senior Lecturer and the Director of Undergraduate Studies in WGS. Her research explores histories of citizenship and belonging, and the ways in which white supremacy, (hetero)sexism, and classism shape collective (mis)memory and archival silence. Light's first book, That Pride of Race and Character: the Roots of Jewish Benevolence in the Jim Crow South (NYU Press, 2014) illuminates the experience of southern Jewish assimilation through the lens of benevolent uplift. She illuminates the gendered and racialized performances of elite, white cultural capital as a critical mode of survival for a racially liminal community of southerners. Stand Your Ground: A History of America's Love Affair with Lethal Self-Defense (Beacon Press, 2017) provides a critical genealogy of our nation's ideals of armed citizenship. Beginning with the centuries-old adage “a man's home is his castle,” she tracks the history of our nation's relationship to lethal self-defense, from the duty to retreat to the “shoot first, ask questions later” ethos that prevails in many jurisdictions today. Ultimately, she contends that the contemporary appeal to “stand your ground” masks its exclusionary commitment to security for the few at the expense of the many. Credit: https://wgs.fas.harvard.edu/people/caroline-light To support the show please visit: https://www.seabassmorris.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/seabasspodcast/support

In this episode, Ryan and Bhavin interview Xing Yang, Tech Lead at VMware and a co-chair of the CNCF Storage TAG, a co-chair of the Kubernetes Storage SIG, a co-chair of the Data Protection WG in Kubernetes, and a maintainer in Kubernetes CSI. The discussion dives into how Kubernetes SIGs and WGs collaborate, and how people can get started. We also talk about storage features and enhancements introduced in Kubernetes version 1.23 and features and enhancements planned for the Kubernetes 1.24 release. Show links: Xing Yang: https://twitter.com/2000Xyang Storage SIG: https://github.com/kubernetes/community/tree/master/sig-storage Data Protection Working Group: https://github.com/kubernetes/community/tree/master/wg-data-protection Kubernetes Storage SIG Planning Spreadsheet: https://docs.google.com/spreadsheets/d/1t4z5DYKjX2ZDlkTpCnp18icRAQqOE85C1T1r2gqJVck/edit?usp=sharing Amazon GuardDuty support for Amazon EKS clusters - https://aws.amazon.com/about-aws/whats-new/2022/01/amazon-guardduty-elastic-kubernetes-service-clusters/ Diamanti Buys Groudwork and its Kubernetes monitoring capability - https://blocksandfiles.com/2022/01/31/diamanti-buys-groundwork-and-its-k8s-monitoring-capability/ Weaveworks buys Magalix to secure GitOps workflows - https://www.magalix.com/blog/magalix-weaveworks-forging-the-path-of-secure-gitops-workflows MinIO raises series-B funding to become a unicorn - https://www.zdnet.com/article/minio-the-de-facto-open-source-standard-for-multi-cloud-storage-becomes-a-unicorn-after-a-103-million-series-b-round-funding/