Podcasts about Rett

Episode 16 fra serien "Josef"

Hva kan du egentlig om dyrelivet rett utenfor døra di? Biolog Anna Blix er tilbake, og denne gangen tar hun oss med på et gratis sommereventyr, rett utenfor døra di. Vi snakker om meitemarker som besøker hverandre, fugler med hukommelse og det morsomme livet som venter i fjæra. Ingen insekter i Norge er farlige, så ingen unnskyldning her! Ta med ungene, grav i jorda og bli overbevist om at du faktisk ikke trenger å dra til syden for å skape eventyr for ungene dine. Hosted on Acast. See acast.com/privacy for more information.

I juli gjør vi noe litt annerledes.Hver uke får du en spesialepisode med utdrag fra to av de mest lyttede episodene gjennom tidene, samlet i én episode.Vi håper du liker denne Best of sommerserien, og at den blir fint selskap i sommer. God sommer! ☀️ Hosted on Acast. See acast.com/privacy for more information.

I dagens sending snakker Helena Edlund med forfatter, opinionsleder og islamekspert Ronie Berggren om islam og islamisme. Hva er egentlig islam, hvorfor har vi i Europa så lav kunnskap om islam, og hva er egentlig islamisering? Og hva må vi gjøre for å sikre at landene våre forblir demokratier?Hver morgen har Document en sending for deg. «Rett på sak» med Espen Teigen går LIVE hver morgen klokken 09.00 mandag–fredag. Et direkte og uredd nyhetsprogram for deg som er lei av NRK.«Fredag med John og Yan» sendes på fredag klokken 10.00, og Document Radio med Helena Edlund sendes på søndag kl. 16.30.

I den grad pressen er opptatt av juss, er det stort sett straffesakene. Det er jo ikke så rart, pressen er jo her for Folk Flest, og også vi er er mest opptatt av krim. Men hvordan tenker journalistene som skriver eller podder om straffesaker om de ulike kryssende hensynene som gjør seg gjeldende ved dekning av slike saker? Mellom tragedie og underholdning, ytringsfrihet og personvern, vesentlige og uvesentlige opplysninger - og den tidvis uhellige symbiosen mellom de redaktørstyrte og sosiale medier? Anine spør, den erfarne og tenksomme krimjournalisten Øystein Milli, som deler Anines mål om å forklare kronglete juss på forståelige måter, svarer. Takk&lov! Hosted on Acast. See acast.com/privacy for more information.

Nytt medlem i redaksjonen, vanskelighetene og gledene med blindsmaking. Og kort om morgenurin.

Please visit answersincme.com/UMW860 to participate, download slides and supporting materials, complete the post test, and get a certificate. Presented by Jeffrey Neul, MD, PhD. n this activity, an expert in pediatrics and neurology discusses the latest data for treatment of Rett syndrome. Upon completion of this activity, participants should be better able to: Discuss the latest efficacy and safety data for investigational neuroactive pharmacologic therapies in the treatment of RTT; and Translate the latest data into treatment considerations for approved and emerging therapies in RTT.

On this week's episode, Graig Suvannavejh, Eric Schmidt, Paul Matteis and Financial Times' Oliver Barnes kicked off with the biotech market, with the XBI in positive territory and 12 biotech IPOs completed so far this year. They expected the IPO window to remain open for high-quality private companies. The group also overviewed recent financings, including SonoThera's $125 million Series B, City Therapeutics' $100 million Series B, Ethyreal's $101 million Series A, and Summit's decision to cancel a $500 million secondary offering. In data news, the co-hosts covered Tango's combination data with Revolution Medicines' RAS inhibitor. They also discussed Incyte's acquisition of Vega Therapeutics as a pipeline-building move ahead of Jakafi's 2028 patent expiration and J&J's acquisition of Firefly, with the RAS inhibitor space expected to remain hot. The group also discussed GSK's acquisition of Nuvalent -- its largest deal to date -- for two late-stage lung cancer assets. Oliver added perspective on biotech deal leaks, following the Incyte/Vega deal and GSK/Nuvalent deals this week. In partnership updates, Novartis expanded its molecular glue work with Orionis, Lilly licensed an Alzheimer's candidate from AlzeCure, and Corvus supported China partner Angel Pharmaceuticals. The episode concluded with the latest in rare disease and gene therapy, covering Novartis' FSHD program, FDA flexibility, Rett syndrome programs, and Sensorion's exit from hearing loss development. *This episode aired on June 12, 2026. 

Det er straks avspark for fotball-VM, og vi kan endelig ta fri fra jus noen uker. Eller? Også i fotball er det kronglete lover og regler med rom for skjønn - som offside og hands. Og jammen er det en verden rundt fotballen også, som fotballen må forholde seg til. Om VM nå er i Qatar eller USA. En verden av både politikk og jus. Hvordan vedtas og håndheves fotballens regler? Og hva er forholdet mellom dem og reglene i verden rundt - når idrettsutøvere utestenges for doping eller hormonnivåer, eller bøtelegges for å si noe politisk korrekt eller ukorrekt på banen? Er idretten unntatt fra menneskerettigheter som privatliv, rettferdig rettergang og ytringsfrihet? Anine spør, hennes tidligere kollega, nå juridisk direktør i Datatilsynet - og vedvarende fotballhistorisk og -juridisk leksikon svarer. Takk&lov! Hosted on Acast. See acast.com/privacy for more information.

In the fourth episode of this series, Dr. Stacey Clardy discusses care team essentials and working within multidisciplinary teams.  Show transcript:  Dr. Stacey Clardy: This is the Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA and the University of Utah. This is our 4th episode in our four-part series on Rett syndrome. Today we're going to discuss care team essentials and working within multidisciplinary teams. Rett syndrome requires coordinated, ongoing, multidisciplinary care across the lifespan. So core team members will often include neurology, genetics, developmental pediatrics, gastroenterology, pulmonology, cardiology, orthopedics, and a range of rehabilitation specialists. Speech language pathology especially plays a central role, particularly through augmentive and alternative communication strategies, given the characteristic profound expressive language limitations in Rett syndrome. Care coordination obviously is essential, and neurologists will usually serve as the central point of integration, helping families navigate the complexities of care systems internationally and anticipating who might need to be brought in at certain times, given evolving needs. And caregiver input is especially critical in Rett syndrome patients because the patients have limited verbal communication. So it's these caregivers who are going to be able to provide key insights into daily neurologic status, behavior, and subtle clinical changes that clinicians may well not be able to detect in periodic short office visits. Another essential component is transition planning, right?  As Rett syndrome patients age, structured transition from pediatric to adult care systems is necessary, essential to maintain continuity and avoid fragmentation. And as in any rare disease, many families find that participation in specialty clinics, and registries, and clinical trials, when available, can provide access to evolving therapies and contribute to ongoing advances in the field. That's it for our Rett syndrome series. Be sure to listen to the three prior Neurology Minute episodes on Rett syndrome for a full overview. I'm Stacey Clardy for the Minute. 

In this Guest Interview, John and Chris welcome Rett Larson, a world renowned volleyball strength and conditioning coach. Rett has gold medals in the 2016 Olympics and 2015 World Cup amongst many other accolades. His 'No Zombies' approach and innovative warmups have taken social media by storm in the S&C field. In this episode, the guys discuss cultural differences in sports training, and practical tips for making warm-ups engaging and effective across various sports.**John, Chris and many of the show's guests are NOT licensed healthcare providers & make NO claims to be. The information provided in this show is not intended to be medical advice & should not be misconstrued as such. You assume all risk & liability by implementing any of the information shared on this show. You should ALWAYS seek the opinions of a qualified healthcare provider in your state/country before using any of the information provided in this show*Chapters00:00 Introduction to the Starting Block Podcast01:15 Meet Rhett Larson: A Journey in Strength Conditioning04:43 Cultural Insights from Coaching Abroad09:35 The Demand for American Coaches in Global Sports12:44 Learning from Different Training Philosophies19:58 No Zombies: A New Approach to Warmups28:24 Thermogenic Warm-Ups and Injury Prevention30:43 Cultural Adaptations in Coaching33:57 Innovative Training Techniques36:12 Creative Drills for Engagement48:49 Fun and Functional Training Methods

I dagens sending snakker Helena Edlund med opinionsleder og medieprofil Mojdeh Zandieh om Iran, Trumps handlinger og hvordan Vesten har sviktet det iranske folket – igjen. Også noen advarselsord om media og uhellige allianser – kan det som skjedde i Iran i 1979 ha en vestlig ekvivalent i våre land..?Hver morgen kl. 09.00 har Document en sending for deg. Mandag til onsdag sender vi «Rett på sak» med Espen Teigen. Et direkte og uredd nyhetsprogram for deg som er lei av NRK.Torsdag og fredag sender vi radiosendinger.

In the third episode of this series, Dr. Stacey Clardy discusses treatment options and ongoing management. Show transcript:  Dr. Stacey Clardy: This is The Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA at the University of Utah. This is the third episode today in our four-part series on Rett syndrome, and we're going to talk about treatment options and ongoing management. There is still no curative therapy for Rett syndrome and management remains largely supportive and multidisciplinary. But there is now an FDA-approved treatment, trofinetide, for adults and children two years of age and older with Rett syndrome. Trofinetide is a synthetic analog of glypromate. It's thought to modulate neuroinflammation and synaptic function, right? Because Rett syndrome involves difficulty with synaptic function. Clinical trials demonstrated improvements in some of the core Rett symptoms, but of course, as always, treatment decisions are going to require an individualized discussion, particularly given some common adverse effects such as diarrhea and vomiting. Beyond disease-specific therapy, management remains symptom driven. Given that epilepsy is common and may be refractory, careful EEG correlations are often necessary. Of course, the breathing abnormalities like hyperventilation and apnea are fairly characteristic and can fluctuate over time so need to be monitored, and gastrointestinal dysfunction, nutritional challenges, other sleep disturbances, and scoliosis require ongoing monitoring and intervention when relevant. Rehabilitation therapies, physical, occupational, and speech, are foundational throughout life. A key principle here is anticipatory management, right? Many of the complications, like cardiac conduction abnormalities and bone health issues, can be identified early and addressed early with better outcomes when Rett syndrome patients have coordinated care. That's it for today. Be sure to listen to the other Neurology Minute episodes in this series on Rett syndrome, and check back for our next and final episode, where we will cover care team essentials and multidisciplinary management. I'm Stacey Clardy for the minute. 

Rett før fotball-VM sparkes i gang, løfter vi på dynene til de største idrettspampene. For der – bak glansbildet – skjuler det seg maktspill, skitne penger, kriminalitet og stormaktspolitikk. Møt sportssjournalist Andreas Selliaas i samtale med VG-journalist Henning Olsen. I sin nye bok, Det farlige spillet, tar sportsjournalisten Andreas Selliaas oss med til idrettens skyggesider, der autoritære regimer bruker idretten som politisk verktøy, mens maktpersoner bruker den til egen personlig vinning.Samtalen fant sted på Litteraturhuset Fredrikstad 4. mai 2026. Hosted on Acast. See acast.com/privacy for more information.

Discover the Rett syndrome clinical breakthroughs of 2025 and beyond. Credit available for this activity expires: 5/28/27 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/rett-syndrome-year-review-what-we-learned-and-beyond-2026a1000gtx?ecd=bdc_podcast_libsyn_mscpedu

In the second episode of a four-part series on Rett syndrome, Dr. Stacey Clardy discusses the importance of early referrals, particularly during the regression phase.  Show transcript:  Dr. Stacey Clardy:  This is the Neurology Minute. I'm Stacey Clardy from the Salt Lake City VA and the University of Utah. This is the second episode in a four-part series on Rett syndrome. Today, let's discuss when to refer and specifically early referral is absolutely critical in Rett syndrome, particularly during the regression phase. Any child, most often a girl with previously acquired developmental milestones who begins to lose language or lose purposeful hand use or develops stereotyped hand movements should prompt urgent neurologic evaluation. This would be referral to pediatric neurology, of course, and this should not wait for genetic confirmation. Early involvement of pediatric neurology allows for diagnostic clarification, anticipatory guidance, and coordination of care across systems. The genetic testing, typically with MECP2 sequencing and deletion or duplication analysis, this should be pursued early and if initial testing is negative but suspicion remains high, expanding that genetic evaluation is warranted. And beyond neurology, early engagement with developmental services, speech, occupational, and physical therapy should start before even a definitive diagnosis is necessarily established. Rett syndrome is a multi-system disorder. So a care team is going to monitor for common comorbidities. This is not just epilepsy, but also gastrointestinal dysfunction, breathing abnormalities, and orthopedic complications. When delayed referrals occur, it's often due to attribution of regression to more common developmental conditions. Be sure to listen to the other Neurology Minute episodes in this series. We'll be back next time for our third episode, and we'll cover treatment options and ongoing management.

Rett på DVD i dagens Nostalgi: Oppfølgeren til En Langbeint Film fra 1995. Max skal på Collage, men det skal også Langbein?!Er du glad i Harry Potter, gaming eller anime?Join Discord serveren vår!https://discord.gg/4J5hG8RStøtt oss gjerne på patreon: https://www.patreon.com/spillkveldSosiale medier:https://www.instagram.com/nordremedia/https://www.facebook.com/filmkamerateneyoutube/https://twitter.com/NordreMedia

Brain aging and disease research can gain new insights from space. Aline M.A. Martins, Ph.D., UC San Diego, explains how neuroscience studies in space use brain organoids, proteomics, and single-cell analysis to understand cognition decline, space-induced neurosenescence, and disease-related changes. Martins examines molecular markers of senescence, mitochondrial impairment, and neuroinflammation in organoid models, including Rett syndrome, while also comparing how space affects organoids of different ages. She shows that space can accelerate aging-related changes and affect cell types differently, helping clarify how space biology may speed drug discovery and reveal biomarkers for disease. This work helps explain how space research can inform treatments on Earth and points toward faster preclinical testing and broader understanding of brain disease. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41478]

Brain aging and disease research can gain new insights from space. Aline M.A. Martins, Ph.D., UC San Diego, explains how neuroscience studies in space use brain organoids, proteomics, and single-cell analysis to understand cognition decline, space-induced neurosenescence, and disease-related changes. Martins examines molecular markers of senescence, mitochondrial impairment, and neuroinflammation in organoid models, including Rett syndrome, while also comparing how space affects organoids of different ages. She shows that space can accelerate aging-related changes and affect cell types differently, helping clarify how space biology may speed drug discovery and reveal biomarkers for disease. This work helps explain how space research can inform treatments on Earth and points toward faster preclinical testing and broader understanding of brain disease. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41478]

Brain aging and disease research can gain new insights from space. Aline M.A. Martins, Ph.D., UC San Diego, explains how neuroscience studies in space use brain organoids, proteomics, and single-cell analysis to understand cognition decline, space-induced neurosenescence, and disease-related changes. Martins examines molecular markers of senescence, mitochondrial impairment, and neuroinflammation in organoid models, including Rett syndrome, while also comparing how space affects organoids of different ages. She shows that space can accelerate aging-related changes and affect cell types differently, helping clarify how space biology may speed drug discovery and reveal biomarkers for disease. This work helps explain how space research can inform treatments on Earth and points toward faster preclinical testing and broader understanding of brain disease. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41478]

Brain aging and disease research can gain new insights from space. Aline M.A. Martins, Ph.D., UC San Diego, explains how neuroscience studies in space use brain organoids, proteomics, and single-cell analysis to understand cognition decline, space-induced neurosenescence, and disease-related changes. Martins examines molecular markers of senescence, mitochondrial impairment, and neuroinflammation in organoid models, including Rett syndrome, while also comparing how space affects organoids of different ages. She shows that space can accelerate aging-related changes and affect cell types differently, helping clarify how space biology may speed drug discovery and reveal biomarkers for disease. This work helps explain how space research can inform treatments on Earth and points toward faster preclinical testing and broader understanding of brain disease. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41478]

Brain aging and disease research can gain new insights from space. Aline M.A. Martins, Ph.D., UC San Diego, explains how neuroscience studies in space use brain organoids, proteomics, and single-cell analysis to understand cognition decline, space-induced neurosenescence, and disease-related changes. Martins examines molecular markers of senescence, mitochondrial impairment, and neuroinflammation in organoid models, including Rett syndrome, while also comparing how space affects organoids of different ages. She shows that space can accelerate aging-related changes and affect cell types differently, helping clarify how space biology may speed drug discovery and reveal biomarkers for disease. This work helps explain how space research can inform treatments on Earth and points toward faster preclinical testing and broader understanding of brain disease. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41478]

Brain aging and disease research can gain new insights from space. Aline M.A. Martins, Ph.D., UC San Diego, explains how neuroscience studies in space use brain organoids, proteomics, and single-cell analysis to understand cognition decline, space-induced neurosenescence, and disease-related changes. Martins examines molecular markers of senescence, mitochondrial impairment, and neuroinflammation in organoid models, including Rett syndrome, while also comparing how space affects organoids of different ages. She shows that space can accelerate aging-related changes and affect cell types differently, helping clarify how space biology may speed drug discovery and reveal biomarkers for disease. This work helps explain how space research can inform treatments on Earth and points toward faster preclinical testing and broader understanding of brain disease. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41478]

In the first episode of a four-part series, Dr. Stacey Clardy discusses the diagnosis and clinical presentation of Rett syndrome.   

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

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

Synopsis: At the intersection of personal mission and biotech leadership, Rahul Chaturvedi sits down with Catherine Owen Adams, CEO of Acadia Pharmaceuticals, for a deeply personal and strategically rich conversation on leadership, commercialization, and the future of neuropsychiatry. From starting as a pharmacist in the UK to pivoting from R&D into commercial leadership at Johnson & Johnson, rising through Bristol Myers Squibb, and ultimately stepping into her first biotech CEO role at Acadia, Catherine shares how storytelling became the throughline of her career—transforming science into physician trust, investor conviction, and enterprise vision. In this episode, Catherine opens up about the personal family experiences with neurodegenerative disease that made Acadia's focus on CNS and rare disease feel like her “Goldilocks opportunity.” She offers a candid look at the realities of being a first-time CEO, managing investor ecosystems, building the right C-suite, balancing billion-dollar commercial execution with high-risk R&D, and navigating the emotional stakes of developing therapies for Parkinson's disease psychosis, Alzheimer's disease psychosis, Rett syndrome, and beyond. Rahul and Catherine also explore the seismic shifts reshaping biotech—from AI-powered commercialization and patient services to policy advocacy through BIO, FDA modernization, and the strategic pressures facing CNS innovation. This episode is both a masterclass in biotech leadership and a powerful reminder that the best CEOs don't just run companies—they tell stories that move science, markets, and patients forward. Biography: Ms. Owen Adams joined Acadia as Chief Executive Officer and as a member of our Board of Directors in September 2024. Ms. Owen Adams has over 25 years of executive level experience in the pharmaceutical industry. Prior to joining Acadia, Ms. Owen Adams served as Senior Vice President and General Manager, U.S., at Bristol Myers Squibb (BMS), where she led a $20 billion commercial business, overseeing a large and diverse portfolio of promoted brands across Oncology, Cardiovascular, and Immunology. Previously, Ms. Owen Adams held the position of Senior Vice President, Head of Major Markets at BMS, where she led commercial operations leading 6,000 employees across 19 countries in Europe, Japan, and Canada during BMS's merger with Celgene. Prior to her tenure at BMS, Ms. Owen Adams spent 25 years at Johnson & Johnson (J&J), where she held leadership roles across global, U.S., and European business units, with her last position being President, Janssen Immunology U.S. Ms. Owen Adams began her career in R&D and manufacturing at AstraZeneca. Ms. Owen Adams currently serves on the board of directors of Agios Pharmaceuticals, Inc., a publicly held company, and AssistRx, a privately held company. Ms. Owen Adams was formerly on the board of directors and chair of the compensation committee for Optinose PLC, a public specialty pharmaceutical company, and was on the board of directors of Robert Wood Johnson University Hospitals, a non-profit organization. Ms. Owen Adams earned a BSc. in Pharmacy from the University of Manchester, becoming a qualified pharmacist and member of the Royal Pharmaceutical Society (MRPhS).

Rett nedenfor velstående Holmenkollen i Oslo ligger Hovseter. For første gang er vestkantstedet med på politiets oversikt over steder med ekstra utfordringer. Vi oppsummerer nyhetene for deg, i dag også om Mímir Kristjánssons nye bibelbok.

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

Brain aging and neurological disease are hard to study because living human brain tissue is difficult to access. Alysson Muotri, Ph.D., UC San Diego, explains how brain organoids sent to space can model accelerated aging, reveal changes in neural networks, and help test potential treatments for brain disorders. Muotri examines space-induced senescence, fragmented network activity linked to dementia and Alzheimer's patterns, and Rett syndrome findings showing inflammation tied to endogenous retroviruses and response to antiretroviral drugs in preclinical models. He also explores using brain organoids in space to screen neuroprotective compounds, including candidates identified from Amazon plants. This work helps explain how space biology can speed research on autism, Rett syndrome, Alzheimer's disease, and other neurological conditions, and points toward new ways to test therapies on Earth. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41475]

This week Rett gets infected with space madness as we look back at 2009's sci fi horror film Pandorum. Rett considers this film a hidden gem akin to Dark City or Event Horizon - unappreciated at release but an interesting film with several shocking twists and turns. https://www.spreaker.com/episode/pandorum--71635500

Rett is a physical preparation coach with an extensive and diverse background. He has worked internationally with the national volleyball teams of Germany, Netherlands and China. Rett has also worked with professionals, down to athletes of all ages, having prior experience as Velocity Sports Performance's director of coaching in California. Rett is a student of movement, having studied not only the top minds in sports performance, but also in general movement training such as taught by Ido Portal and in the scope of physical education. 02:40 - The fun of working some beach pros, along with a slew of other athletes, helping players hone their skill that fits the situation 09:29 - "No Zombies" in practice explained, warmups that galvanize practice, practice plans that are appropriate for the game preparation and post performances 20:20 - Moves that you think athletes NEVER practiced, but they do, using examples in MMA and beach volleyball, the advantages indoor players have cross training on the beach 29:13 - Understanding why "No Zombies" is sustainable, and on the opposite end why "going through the motions" is not always a bad thing, why guys like him doing his job helps guys like me do our job 42:20 - What does skills over drills really mean? Where "taking care of your side of the net" applies, the players who understand coaching is a different occ 57:21 - Where being physically ready improves the mental, playing your percentages, the real scientists? Are us. 1:07:00 - "Don't try this at home," or should we? Plus, consequence drills: What if she can't go (mentally)? 1:25:03 - Conventional warmups, non-conventional warmups and the adjustments, the vast library, the fun in competitive, interesting inspiring reads

Last year, Wes showed El Mariachi to Rett. This week Rett is firing back at Wes' Robert Rodriguez pick and raising him Spy Kids, a quintessential movie for any self respecting millennial! From day dreaming about the rehydrator to uncovering trivia about the nightmarish Thumb Thumbs, we had a great time experiencing and reliving this 2000's classic.https://www.spreaker.com/episode/spy-kids--70881781#robertrodriguez #spykids #millenial

Freiburg og Mainz med rekordsuksess i Europa! Köln-trener Kwasniok erklærer at han er rett mann for rett lag til rett tid. Dagen etter får han sparken. Asbjørn mimrer om et historisk mål som er nesten like gammelt som ham selv. Vi anbefaler film for landslagspausen. Applaus for Jonas Therkelsen, tenk at en nordmann skulle avgjøre MOT Bochum!See omnystudio.com/listener for privacy information.

Hva er det som skjer i den nye Grandiosareklamen?! Og hvorfor henger ikke hjemløse og lutfattige på IKEA? Irriterer meg også over Joe Rogan sin gigantiske inkompetanse og gikk dypt nedi et kaninhull med katter i fallskjerm og andre dyr. Mye gøy og mye fjas. Rett og slett en herlig episode.Og kom dere på show denne uken folkens! Onsdag og torsdag! https://www.ticketmaster.no/artist/christoffer-schjelderup-billetter/983426 Hosted on Acast. See acast.com/privacy for more information.

Interview with Dr. Mark Williams, President & CSO, and  J. Roderick Matheson, Director & CEO of Marvel Bioscience Corp.Recording date: 16th March 2026Marvel Biosciences is advancing MB-204, a first-in-class treatment for social withdrawal conditions across autism spectrum disorder, depression, and Alzheimer's disease. The clinical-stage biotechnology company targets an underserved therapeutic area affecting millions globally, with autism prevalence reaching one in 36 children in the United States and depression impacting one in eight adults currently on antidepressants. The addressable market spans hundreds of billions of dollars in healthcare costs and lost productivity.The compound is based on a modified version of an approved Parkinson's medication, providing an established safety foundation for clinical development. Preclinical data demonstrates rapid symptom reversal within one hour of oral dosing in animal models. In head-to-head comparisons, MB-204 outperformed trofinetide, the only FDA-approved Rett syndrome treatment, across all measured behavioral endpoints. Critically, animals treated with MB-204 maintained improvements for two to three weeks after treatment cessation, suggesting semi-permanent neurological changes, while trofinetide benefits disappeared immediately upon stopping.Marvel's clinical strategy prioritizes orphan disease indications, specifically Rett syndrome and Fragile X syndrome, where Phase 3 success rates exceed 50% due to genetically homogeneous patient populations and validated regulatory pathways. The company has completed manufacturing of clinical-grade material and toxicology studies, positioning MB-204 for immediate Phase 1 entry in Australia within six to twelve months. The Australian regulatory environment offers efficient processes and a 43% research tax credit that significantly reduces development costs.Marvel holds composition of matter patents in China and Japan, with additional jurisdictions pending. The company has engaged in preliminary partnership discussions, aligning with neuroscience sector dynamics where approximately 70% of companies complete licensing or acquisition deals before Phase 2. Historical precedents show neuroscience acquisitions typically occur at valuations exceeding $80 million at this stage. Trading at $9 million CAD market capitalization, Marvel represents a significant discount to comparable Phase 1 neuroscience firms, with several peers valued between $100-400 million.Sign up for Crux Investor: https://cruxinvestor.com

Rett syndrome is a rare neurodevelopmental disorder that disrupts a child's ability to purposely use their hands, communicate, and move around. It creates a lifelong caregiving burden for families, and there are still no treatments that truly change the course of the disease. Neurogene is developing a one-time gene therapy that has shown promising early results, with children gaining new skills and continuing to make developmental progress over time. We spoke with Rachel McMinn, CEO of Neurogene, about Rett syndrome, the company's technology for controlling gene expression, and the encouraging data they've seen so far.

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

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

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

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

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

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

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

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