Podcasts about dravet

La Clínica Universidad de Navarra comenzará ensayos clínicos con un nuevo tratamiento para esta enfermedad rara que afecta a niños desde los primeros meses de vida. Lo explica en La Brújula la Doctora Rocío Sánchez-Carpintero y Rosa Sánchez, madre de Mikel, que padece esta enfermedad.Un virus contra el cáncer: una nueva vía para tratar tumores cerebrales en niñosEl CIMA celebra 20 años a la vanguardia de la investigación traslacional

‘La brújula' ha viajado a Pamplona para emitir en directo desde el Cima Universidad de Navarra, un centro de referencia internacional en investigación médica. Durante cuatro horas de radio en vivo, nos hemos acercado al trabajo de quienes dedican su vida a encontrar soluciones para enfermedades que, a día de hoy, aún no tienen cura.Rafa Latorre ha conversado con José Andrés Gómez Cantero, director general del Cima Universidad de Navarra, sobre los retos actuales de la investigación médica. También hemos escuchado a la doctora Marta Alonso, directora del Grupo de Terapias Avanzadas para Tumores Sólidos Pediátricos. Junto a la doctora Rocío Sánchez Carpintero, referente en el estudio del síndrome de Dravet, abordamos los últimos avances en el tratamiento de esta enfermedad rara, y conocemos el testimonio de la familia de Mikel Goñi, en concreto de su madre Rosa Sánchez. 

Gene therapies take center stage in this week's episode. We discuss a potential gene replacement therapy for people with Dravet Syndrome that scientists have tested in mice with good results and highlight some recent progress from two editing companies. We also break down the recent news from Sarepta about the death of a patient after treatment with its gene therapy for Duchenne muscular dystrophy. In other stories, new data reveals a nonviral method for introducing transgenes into human primates and AstraZeneca steps up R&D in China with new drug, vaccine, and healthcare partnerships in the billions of dollars.Join GEN editors Corinna Singleman, PhD, Alex Philippidis, Julianna LeMieux, PhD, and Uduak Thomas for a discussion of the latest biotech and biopharma news. Listed below are links to the GEN stories referenced in this episode of Touching BaseGene Therapy Tested in Mice Offers New Hope for People with Dravet Syndrome By Uduak Thomas, GEN, March 19, 2025 DMD Patient Dies After Treatment with Sarepta Gene TherapyBy Alex Philippidis, GEN Edge, March 18, 2025 PiggyBac Transposon System Creates Transgenic Cynomolgus MonkeysBy Julianna LeMieux, PhD, GEN, March 26, 2025 From Tools to Trials: Editing Therapy Companies Pivot to DevelopmentBy Alex Philippidis, PhD, GEN Edge, March 20, 2025 AstraZeneca Commits up to $11B+ to Chinese Collaborations, Beijing R&D Hub By Alex Philippidis, PhD, GEN Edge, March 21, 2025 Hosted on Acast. See acast.com/privacy for more information.

Dr. Simona Giorgi from Dravet Syndrome Foundation Spain shares their preclinical and clinical studies, epidemiological research, and their development of tools to support caregivers and people affected by Dravet! Highlighted are the needs for greater awareness among healthcare professionals about the capabilities of patient advocacy groups and the invaluable psychological support they can provide to families. ------------------------------------------

Send us a textThis week's episode is with Mary Anne Meskis, a founding member and the Executive Director of the Dravet Syndrome Foundation (DSF)—a nonprofit dedicated to raising awareness, providing support, and funding research for Dravet syndrome.Dravet syndrome is a rare and severe form of epilepsy that begins in early childhood, typically caused by a mutation in the SCN1A gene. It leads to frequent and prolonged seizures, developmental delays, and other lifelong challenges, including changes in appetite, mobility, sleep, and growth. While anti-seizure medications are used to manage symptoms, seizure control remains a significant challenge, which we dive into in this episode.Mary Anne and I discuss the critical gap in Dravet syndrome research and how DSF bridges it by increasing research funding and supporting initiatives like the Dravet Genome Study. She also shares how her team simplifies complex scientific information to make it more accessible to families and the broader community. Additionally, we explore DSF's new legislative advocacy program and her vision for the organization's future.Make sure to subscribe to The Neurological Disorder Podcast on Spotify, Apple Podcasts, or wherever you listen to your podcasts!Follow me on Instagram: @neurologicaldisorderpodcastEmail me at: neurologicaldisorderpodcast@gmail.comDSF Instagram: @dravetsyndromefoundationHelpful resources:https://dravetfoundation.org/https://www.ninds.nih.gov/health-information/disorders/dravet-syndrome

On this week's episode, hosts Chris Garabedian, Brad Loncar,Sam Fazeli and Yaron Werber cover a busy news week ahead of the J.P. Morgan Healthcare Conference as well as a preview of what to expect next week at the event. Thegroup highlights some of the mega private deals announced, including three that involved the licensing of China assets. The hosts zoom out with a recap of end-of-year reports, the current state of the market and XBI outlook. On the data front, Jasper reports positive Phase 1/2 data for chronic urticaria, Vir shares data for masked T-cell engagers and Stoke moves into Phase 3 with their antisense oligonucleotide for Dravet syndrome. The group also discusses Novo's deal with Valo Health, Galapagos' interesting move with new spin out company, whether we've reached ‘peak obesity' and much more. This episode aired on January 10, 2025.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world. A lawsuit against Merck related to the HPV vaccine Gardasil, led by Robert F. Kennedy Jr., has been suspended after confirmation. Biopharma bankruptcies are at a peak, with 14 companies filing for chapter 11 protection in 2023 and numbers remaining high in 2024. Gilead has passed on an option for a cancer drug from Arcus, and Merck has partnered with Epitopea to identify unknown tumor antigens. The American Biomanufacturing Summit is set to take place in April 2025 in San Francisco, bringing together industry leaders for exclusive sessions and networking opportunities. The pharmaceutical industry is facing challenges such as patent cliffs and regulatory changes, with companies like Exelixis looking to next-generation cancer drugs for growth. Novo is seeking $830 million in a fraud case against a Singaporean biotech company over a kidney drug. Additionally, there are insights on site survival for clinical research sites and how biotechs can avoid state and local tax surprises. Trump's administration is reportedly seeking to dismantle parts of the FDA workforce, leading to concerns about job security within the agency.Biopharma bankruptcies remained high in 2024, with 14 companies filing for chapter 11 protection, the most in over a decade. Cour Pharmaceuticals solidified its mission last year with a series a raise. Some biotechs are facing unexpected tax consequences when dealing with big pharma. Several top pharma companies are facing massive patent cliffs, including Merck's Keytruda. Novo seeks $830 million in a fraud case against a Singaporean biotech, while Exelixis looks to next-gen cancer drugs. Biogen and Stoke strike a co-development deal for Dravet syndrome. The FDA faces uncertainty as the Trump team seeks to dismantle the workforce. Aardvark Therapeutics raises $94 million for obesity treatments. Abbott, Life Edit Therapeutics, and Regeneron Pharmaceuticals are hiring for various positions.

Good morning from Pharma and Biotech Daily, the podcast that gives you only what's important to hear in the Pharma and Biotech world. Novo Nordisk has filed a lawsuit against Singaporean biotech company KBP Biosciences, alleging fraud in relation to a hypertension and kidney disease drug deal. Novo seeks $830 million in damages, claiming they were misled by the biotech's founder. In other news, Biogen and Stoke have teamed up to develop a treatment for Dravet syndrome, with potential payments of up to $385 million to Stoke. Additionally, Arcus challenges Merck in kidney cancer treatment, Cour Pharmaceuticals enters the myasthenia gravis arena after 10 years of work. On the financial side, AlgoTx faced setbacks in a non-opioid pain trial, while Moderna reported higher-than-expected losses. On a different note, RFK Jr. signals support for the psychedelics space. Lastly, the FDA faces challenges as the Trump administration seeks to dismantle the workforce, leading to concerns about job security within the agency. Thank you for tuning in to Pharma and Biotech Daily.

On this week's episode, hosts Chris Garabedian, Brad Loncar,Sam Fazeli and Yaron Werber cover a busy news week ahead of the J.P. Morgan Healthcare Conference as well as a preview of what to expect next week at the event. Thegroup highlights some of the mega private deals announced, including three that involved the licensing of China assets. The hosts zoom out with a recap of end-of-year reports, the current state of the market and XBI outlook. On the data front, Jasper reports positive Phase 1/2 data for chronic urticaria, Vir shares data for masked T-cell engagers and Stoke moves into Phase 3 with their antisense oligonucleotide for Dravet syndrome. The group also discusses Novo's deal with Valo Health, Galapagos' interesting move with new spin out company, whether we'vereached ‘peak obesity' and much more. This episode aired on January 10, 2025.

In this deeply moving episode of Evolving Together, Christine sits down with Lillian, a mother whose life took an unexpected turn when her son Mirai was diagnosed with Dravet syndrome, a severe form of epilepsy.   Lillian shares the raw and emotional journey of navigating hospital visits, facing life-threatening moments, and the profound transformation of her motherhood experience. From initially striving to “get her son back” to discovering the true essence of joy and acceptance in her relationship with him, Lillian's story speaks to the power of resilience, love, and self-care.   Tune in as she reflects on the importance of creating memories, letting go of expectations, and the continual evolution as both a mother and a woman. This episode is a testament to finding light and hope amidst life's hardest challenges, offering inspiration to all parents navigating the complexities of caring for a child with complex health needs.

2024 DSF Biennial Family & Professional Conference June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a platform for fostering new relationships and collaborations among families and professionals alike. Recorded sessions from the conference can be accessed on demand by both virtual and in-person registrants through December 31, 2024.  conference@dravetfoundation.org

In this deeply personal and motivating episode, Brennan Slagbaum reflects on a life-changing experience with his daughter's health and how it reinforced the key traits that drive success. He shares the top three traits of highly successful people—persistence, consistency, and hunger—explaining how these qualities shape not only financial freedom but also personal growth.    Brennan opens up about his own challenges, including his family's journey with Dravet syndrome, and how mindset, focus, and determination have been critical in achieving his goals. This episode offers actionable insights and inspiration for anyone looking to overcome obstacles and reach their potential.   Key Talking Points of the Episode   00:00 Introduction 01:57 The seizure that challenged our family 09:28 How life's challenges shape perspective and resilience 13:28 Trait #1 - Persistence 16:01 Trait #2 - Consistency 20:28 Trait #3 - Hunger to Win 22:06 How your confidence will affect your persistence 25:35 How your true self will help you align with your success 27:50 Why focusing on traits is more important than outcomes   Quotables   “Use your disadvantage to your advantage – that's how you win.”   “Your hunger to succeed often comes from deep within—aligning with who you truly are.”   “Persistence is a promise you make to yourself that you will not break, no matter the challenges.”   Links   Budgetdog https://budgetdog.com/ https://instagram.com/budgetdog  

What is Dravet Syndrome? Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins in infancy and proceeds with accumulating morbidity that significantly impacts individuals throughout their lifetime. It has an estimated incidence rate of 1:15,700 Enter the Dravet Syndrome Foundation (DSF). DSF is a nonprofit organization that acts as a convener of the Dravet syndrome community.  Since their founding in 2009, they have engaged and educated all of their community stakeholders – patient families, clinicians, researchers, industry partners, and others – to envision and fight for better treatments, and one day a cure for Dravet syndrome. They believe that efforts to improve the quality of life for those affected by Dravet syndrome must include the patient's voice and experience to help guide outcomes. DSF is proud to be the largest non-governmental funder of Dravet syndrome research, worldwide. DSF's steadfast commitment to advancing Dravet syndrome research, as well as our community's engagement throughout the clinical trial and drug development process, has helped enable three new treatments for the disease, with several additional clinical trials already underway or soon starting. We have made incredible progress, including the approvals by the U.S. Food and Drug Administration (FDA) of Diacomit® (stiripentol) Epidolex® (cannabidiol), and Fintepla® (fenfluramine). Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of intractable epilepsy that begins in infancy and proceeds with accumulating morbidity that significantly impacts individuals throughout their lifetime. It has an estimated incidence rate of 1:15,700. Connect to learn more: Website: https://dravetfoundation.org/ Facebook: @DravetSyndromeFoundation X: @curedravet IG: @dravetsyndromefoundation Email: info@dravetfoundation.org Phone: (203) 392-1955 For more information about Eric Jorgensen you can find him here: Web: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://visiblenationaltrust.com/⁠⁠⁠⁠ Waypoints: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://waypoints.substack.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ LinkedIn: ⁠⁠⁠⁠https://www.linkedin.com/in/eric-jorgensen-visible-national-trust/⁠⁠⁠ --- Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support

In this deeply moving episode of Evolving Together, Christine sits down with Lillian, a mother whose life took an unexpected turn when her son Mirai was diagnosed with Dravet syndrome, a severe form of epilepsy.   Lillian shares the raw and emotional journey of navigating hospital visits, facing life-threatening moments, and the profound transformation of her motherhood experience. From initially striving to “get her son back” to discovering the true essence of joy and acceptance in her relationship with him, Lillian's story speaks to the power of resilience, love, and self-care.   Tune in as she reflects on the importance of creating memories, letting go of expectations, and the continual evolution as both a mother and a woman. This episode is a testament to finding light and hope amidst life's hardest challenges, offering inspiration to all parents navigating the complexities of caring for a child with complex health needs.

In this episode of Money on My Mind, I'm diving deep into a topic that's close to my heart: investing for our children. I share the strategies my wife and I use to set our daughters up for financial success, but this isn't just about numbers. It's about the principles and values we're instilling in them to ensure they use wealth responsibly and make an impact. I tackle the common misconception that investing for your kids leads to them being “spoiled” and lay out the steps we take to ensure they grow up with a strong understanding of financial responsibility and giving back.   We explore the essential accounts and investments we're leveraging—from brokerage accounts to Roth IRAs—and why creating a system for generational wealth goes beyond just putting money in their hands. Whether it's setting up a trust with intentional stipulations or teaching the importance of financial literacy, this episode is a call to rethink how we approach wealth for the next generation.   Episode Highlights [0:00] - Introduction  [0:41] - Why I believe in raising “trust fund babies” with responsibility [2:07] - Our mission to raise $1 million for Dravet syndrome in honor of my daughter [4:31] - Debunking the myth: Money doesn't spoil kids; lack of values does [8:14] - Building generational wealth and why I'm the “first millionaire” in my family [10:05] - Mastering habits and the power of financial literacy for kids [17:32] - Trusts and stipulations: Setting financial expectations for our daughters [19:17] - How we invest for each of our daughters with a mix of accounts and goals [24:20] - Creating a positive financial mindset for our children and why it matters 5 Key Takeaways 1. Money Doesn't Spoil; Values Do – Wealth alone doesn't lead to entitlement; it's the values we instill that matter. Teaching responsibility and gratitude is essential in raising well-rounded, financially empowered kids. 2. Generational Wealth Starts with Habits – Creating a financial system and healthy money habits for your kids can set them up for a successful future and help them manage wealth wisely. 3. Leverage a Mix of Accounts – From brokerage accounts to Roth IRAs and 529 plans, choosing the right accounts can maximize growth while ensuring funds align with your goals for your child. 4. Intentional Gifting Through Trusts – Using trusts with specific stipulations is an effective way to provide for your children without fostering dependency or entitlement, helping them value their inheritance. 5. Positive Financial Mindset is Key – Cultivating a positive attitude toward money and avoiding stress around finances can empower your kids to approach money confidently and generously.   Links & Resources Join our beginner Millionaire Club today

Tuesday, October 22, 2024 First Principles Genetic disease means that gene broken since conception. Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation. These are delivered via spinal tap or directly to the brain in leading medical centers. First though, regulators must approve.   Our job Develop medicines or get industry to - This is happening see Pipeline Get regulators to approve trials Get medical centers up to speed on SYNGAP1-Related Disorders (SRD) What we are building on CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week's webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/ Rare-X platform for PRO collection Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.   What we are asking for We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS) Make your largest gift ever to SRF Fundraise with friends and family ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us. Key slides: S1 Path to Treatment | 2024 (09.27.24) 1. Why Now?  Why is it time to go from bench to bedside (research to clinical)? At least 10 companies on our pipeline not to mention multiple small molecule efforts We have limited resources – so the focus has to transition, clinical funding first. CHOP Gift is 1 year down… 2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105  FYI at CHOP, as I shared in #S10e151, at year 1, we are at  – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd)  + 22 (follow up)  Learn what to measure in clinical trials for SRD, remember our seizures are challenging Ideally we develop a Synthetic Control Arm if we use GCP Why top shelf?  We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians.  3. Why Multidisciplinary. Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho. Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.   4. Why Multisite/3 sites?Replicable/scalable required by regulators Accessibility (not primary reason) Establish more locations where trials will be managed Laying a foundation for a national self-sustaining network 3 is the minimum, look at STARR or Angelman, both had/ve 4. 5. How and why so fast? Because we can.  Time is Brain. Following a well trodden path SMA, Rett, Angelman, Dravet, but we are moving FASTER. 6. Does the industry really care? We are next there are so so many behind us, eager to take the resources we have access to today. Market size (Per our Census 425 US/1500 global is tip of iceberg) Multiple players reassuring each other Relatively strong amount of scientific and clinical research Haploinsufficiency (like Dravet – STOKE) – so relatively easy 7. Expensive? No. Clinical Research is more expensive than basic scientific research. Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials.  It's time. 8. Why Bother/Help? Now is the time for SYNGAP1, we miss it at our peril. Sure, once in these places we will still see our patients, but the study, the support and the focus may pass. Our kids don't die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers. If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked.  We must ask. 9. What can I do? Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it's critical $500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters. This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours? Syngap.Fund/C2C   https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge   Two teams:  https://Syngap.Fund/West & https://Syngap.Fund/East

Join Tom Ackerman as he dives into his latest NFL picks, sharing his top selections for the week and reflecting on his impressive 10-2-1 record against the spread. Tom welcomes Jim Brennan, president of McKelvey Homes, to discuss the upcoming Dance for Dravet event and its significance in raising awareness and funds for Dravet Syndrome. Join Tom Ackerman for an engaging episode filled with NFL picks and reflections on the St. Louis sports scene. Tom shares his latest selections for the NFL week, boasting a stellar record of 10-2-1 against the spread. He welcomes Jim Brennan, president of McKelvey Homes, who emphasizes the critical role of community support in raising awareness and funds for Dravet Syndrome through the upcoming Dance for Dravet event. Jim highlights the positive impact of such events on the community and the importance of participation. Later in the episode, Lutz Pfannenstiel, sporting director of STL City SC, calls in to discuss the 2024 season. Lutz reflects on the season's challenges, particularly the number of draws and injuries, while stressing the importance of the upcoming transfer window for team improvement. He shares insights on individual player evaluations, emphasizing trust in the current roster while acknowledging the need for potential changes to enhance performance. Lutz also encourages fans to support City 2 in their playoff game, reinforcing the importance of community engagement in shaping the future of STL City SC. He concludes by thanking the fans for their unwavering support and participation.

Guests: Brian Barnhart, Illinois Football Announcer Josh Schertz, SLU Basketball Analyst Jim Brennan, President of McKelvey Homes Lutz Pfannenstiel, Sporting Director of St. Louis City SC Polo Ascencio, Spanish Broadcaster for the St. Louis Cardinals Bernie Miklasz, KMOX Sports Analyst Description: In Hour 1, Tom Ackerman kicks off with an in-depth look at college football, starting with Mizzou quarterback Brady Cook's heroic performance, leading a 21-17 comeback win against Auburn despite playing through an injury. Illinois Football announcer Brian Barnhart joins to discuss Illinois' shocking 21-7 upset over Michigan, along with insights on Brad Underwood's basketball team. Josh Schertz shares his analysis of SLU's exhibition win over Rockhurst, highlighting standout performances from Kalu Anya and Isaiah Swope. The hour wraps up with coverage of the St. Louis Blues' thrilling 4-3 victory over the Carolina Hurricanes, where Dylan Holloway scored the game-winning goal, supported by Joel Hofer's incredible 37 saves. Hour 2 dives into Tom's weekly NFL picks, analyzing key matchups like Atlanta vs. Seattle, Buffalo vs. Cleveland, and more. The show also celebrates the Dravet Syndrome Foundation's incredible fundraising success, with over $2 million raised for research. Jim Brennan, President of McKelvey Homes, discusses his involvement with the foundation, sharing the inspiring story of his niece, Anna Grace, and the success of the "Dance for Dravet" event. Lutz Pfannenstiel reflects on St. Louis City SC's season, covering both the highs and areas for improvement, while Polo Ascencio offers his expert MLB insights, previewing the Dodgers-Mets NLCS showdown. Tom and Bernie Miklasz wrap up with a lively discussion about college football, focusing on Indiana's surprising run and Mizzou's thrilling games, along with predictions for the MLB playoffs and potential World Series matchups

**NOTICIAS ECONÓMICAS Y FINANCIERAS** ☕️ SpaceX logró un hito histórico en su quinto vuelo de prueba al lanzar el gigantesco cohete Starship y recuperar el propulsor de primera etapa Super Heavy usando brazos mecánicos llamados "chopsticks". Este avance acerca a la empresa de Elon Musk a su objetivo de desarrollar cohetes reutilizables que podrían reducir los costos de transporte espacial. Además, fortalece los planes de la NASA para reanudar sus misiones lunares y explorar Marte. Aunque los primeros tres vuelos de prueba terminaron en explosiones, el cuarto en junio de 2024 y el más reciente han sido exitosos, allanando el camino para futuras pruebas de aterrizajes controlados. NASA ya ha seleccionado a Starship para su misión tripulada a la Luna, Artemis 3, programada para septiembre de 2026. Berkshire Hathaway ($BRK.A, $BRK.B), la empresa de Warren Buffett, realizó una compra significativa de acciones de la compañía de radio y radiodifusión SiriusXM ($SIRI) esta semana, adquiriendo un total de $86.73 millones en acciones, lo que elevó su participación total a 192 millones de acciones. La empresa compró 870,000 acciones el miércoles, 1,435,000 acciones el jueves y 1,259,000 acciones el viernes. Berkshire había revelado su participación en $SIRI en noviembre de 2023, luego de que la empresa se convirtiera en pública e independiente tras su transacción con Liberty Media en septiembre. La gigante de software empresarial, ServiceNow ($NOW), anunció una inversión de $1.5 billones en el Reino Unido durante los próximos cinco años, como muestra de confianza hacia el primer ministro Keir Starmer, quien busca atraer inversión extranjera. El dinero se destinará a expandir su negocio en el Reino Unido, incluyendo nuevas oficinas y un crecimiento en la plantilla actual de 1,000 empleados. Además, la inversión se enfocará en la localización de procesamiento de datos para sus modelos de lenguaje grande (LLMs) y la incorporación de GPUs de Nvidia en centros de datos en Londres y Newport. Este esfuerzo busca desarrollar LLMs específicos para clientes y gobiernos del Reino Unido, promoviendo la "soberanía" de la IA en Europa. Lundbeck ($HLBBF) adquirirá Longboard Pharmaceuticals ($LBPH) por un valor de $2.6 billones. Las acciones de $LBPH subieron un 47.81% en el premercado tras el anuncio. Lundbeck lanzará una oferta pública para adquirir todas las acciones en circulación de Longboard. El acuerdo, aprobado por unanimidad por ambas juntas directivas, se cerrará en el cuarto trimestre de este año. A través de esta adquisición, Lundbeck accederá a bexicaserina, un tratamiento en desarrollo para las convulsiones asociadas con epilepsias raras como el síndrome de Dravet y Lennox-Gastaut. La empresa financiará el acuerdo con recursos de caja y su línea de financiamiento bancario, y estima costos de integración de $80 millones que impactarán principalmente en 2024.El ministro de Finanzas de China, Lan Fo'an, ofreció un discurso esperado sobre el plan del país para apoyar la economía, pero no dio detalles sobre cuánto gastará el gobierno para revertir las tendencias deflacionarias. Afirmó que el gobierno tiene una gran capacidad para aumentar el gasto y aliviar las deudas de los gobiernos locales, estabilizar el valor inmobiliario y recapitalizar los principales bancos. Aunque prometió medidas audaces, algunos economistas expresaron decepción por la falta de anuncios sobre el impulso al consumo personal, que consideran clave para el crecimiento a largo plazo. Más detalles se esperan cuando el parlamento chino se reúna este mes. Las acciones que tenemos hoy con predicción bullish en Pre-Market Runners:**

El tercer concierto solidario de la Banda Municipal "La Pamplonesa" reconoce la labor de la Fundación Síndrome de Dravet, una enfermedad rara que afecta a una de cada 20.000 personas y se manifiesta desde el primer año de vida a través de crisis epilépticas severas con afecciones cognitivas. Sólo hay nueve personas diagnosticadas con este síndrome en Navarra. La banda ofrecerá el concierto con una invitada estrella, Maialen Gurbindo. Entrevista con Nekane Solana, La Pamplonesa, Patxi Berasategui Fundación de Síndrome de Dravet Navarra, y Maialen Gurbindo 'Chica Sobresalto'....

What's it like to raise a child with a rare disease? In this episode of A Place of Yes, Heather connects with Jeff Ames, whose daughter Tessa lives with Dravet syndrome. As rare disease parents, Heather and Jeff share the unique struggles and unexpected joys of raising a child in a world that feels so different from everyone else's. They discuss the emotional toll, the constant challenges, and the overwhelming love that defines their journeys. It's a conversation about resilience, community, and what it means to live a life that few others can truly understand. Find Heather and Jake's Help from Heaven: ❤️ Heather's Instagram: https://www.instagram.com/heathersstraughter/ ❤️ Jake's Help from Heaven: http://jakeshelpfromheaven.org/ ❤️ Jake's Help from Heaven IG: https://www.instagram.com/jakeshelp/ ❤️ Facebook: https://www.facebook.com/jakeshelpfromheaven ❤️ Our YouTube Channel: https://www.youtube.com/@APlaceofYesPodcast Learn more about your ad choices. Visit megaphone.fm/adchoices

Los abuelos cobrarán por cuidar de sus nietos. La letra pequeña: no es una noticia española, sino de Suecia. Pero traemos el debate a casa con oyentes y opinantes, y con abuelos, faltaría más. Nos pasamos por la exposición que traslada a imagen nuestros sueños en el Pozu Santa Bárbara de Mieres con su comisaria, Cristina de Silva. Miguel Trevín hace su magia musical y nosotros seguimos proponiendo planes, parada especial en el Festival Metrópoli de Gijón con Suca García, su directora. Hacemos recuento de las fiestas “de prao” que vienen los próximos días en Asturias con Daniella Alumbreros. Pedro Muñoz, padre de Cristina, una niña de once años con “síndrome de Dravet” nos cuenta lo que es convivir con una enfermedad “rara”. Cerramos con la escritora Concha Calleja que acaba de publicar “Tres Reinas” y vendrá a presentarla a Asturias.

Los abuelos cobrarán por cuidar de sus nietos. La letra pequeña: no es una noticia española, sino de Suecia. Pero traemos el debate a casa con oyentes y opinantes, y con abuelos, faltaría más. Nos pasamos por la exposición que traslada a imagen nuestros sueños en el Pozu Santa Bárbara de Mieres con su comisaria, Cristina de Silva. Miguel Trevín hace su magia musical y nosotros seguimos proponiendo planes, parada especial en el Festival Metrópoli de Gijón con Suca García, su directora. Hacemos recuento de las fiestas “de prao” que vienen los próximos días en Asturias con Daniella Alumbreros. Pedro Muñoz, padre de Cristina, una niña de once años con “síndrome de Dravet” nos cuenta lo que es convivir con una enfermedad “rara”. Cerramos con la escritora Concha Calleja que acaba de publicar “Tres Reinas” y vendrá a presentarla a Asturias.

Lennox-Gastaut syndrome and Dravet syndrome are two rare, developmental and epileptic encephalopathies. Drug developers have sought to address epilepsies by altering the electrical activity in the brain. Ovid therapeutics, though, has taken a novel approach with its experimental therapy soticlestat by seeking to restore homeostasis to the brain. We spoke to Meg Alexander, chief strategy officer of Ovid, about rare epilepsies, how the company's experimental therapy soticlestat works, and the potential to apply the approach to other CNS conditions. Since recording this episode, there have been new results on soticlestat released. Ovid's partner Takeda this week reported that soticlestat narrowly missed its primary endpoint in its phase 3 Dravet syndrome study while showing clinically meaningful and nominally significant effects in multiple key secondary efficacy endpoints. It also missed its primary endpoint of reduction in major motor drop seizures as compared to placebo in a separate phase 3 study in Lennox-Gastaut syndrome. Takeda said it will be engaging with regulators to determine the best path forward.

Encoded Therapeutics is developing gene therapies that can target any cell type that has a unique genetic profile. The company's lead experimental therapy is in development for the epileptic encephalopathy Dravet syndrome, although the company expects to pursue metabolic, liver, and cardiovascular conditions in the future. We spoke to Salvador Rico, chief medical officer of Encoded Therapeutics, about its lead program in Dravet syndrome, its efforts to develop gene therapies with optimized regulatory elements to target specific organs, and why he believes its approach is a point of differentiation for the company.

A partir de maio, a rede pública de saúde do Estado de São Paulo vai fornecer gratuitamente medicamentos à base de canabidiol (CBD) para pacientes das síndromes de Dravet e Lennox-Gasteau, e de esclerose tuberosa. Será a primeira vez que o Sistema Único de Saúde inclui a substância no seu rol de tratamentos – o ato mais recente de um movimento que tomou impulso em 2015 e em 2019, quando, respectivamente, a Anvisa liberou a importação e a comercialização em farmácia de produtos feitos a partir do CBD. Neste episódio, Julia Duailibi entrevista o psiquiatra e neurocientista José Alexandre Crippa, professor da Faculdade de Medicina da USP Ribeirão Preto e um dos principais pesquisadores em canabidiol do país. Ele diferencia o CBD do THC - substância com ação psicoativa que “dá barato” - e explica por que ele, o canabidiol, é tão importante para o tratamento de algumas condições neurológicas.

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.Biotech veteran Art Krieg has postponed his retirement to start a new drug startup called Zola Therapeutics, focusing on cancer immunotherapies without outside investors. Stoke's shares surged on updated results for their drug for Dravet syndrome, a form of genetic epilepsy. Moderna received backing from Blackstone for flu vaccine research and development. Armon Sharei, founder of the now-liquidated SQZ Biotechnologies, is starting over in biotech with a focus on cell therapies. The newsletter Gene Therapy Weekly provides insights into the latest news and trends in the biopharma industry, covering topics such as clinical trials, FDA approvals, gene therapy, and more. Industry Dive's Biopharma Dive publication offers in-depth journalism and analysis for decision makers in the biotech and pharma sectors.CVS has entered the biosimilar drug market with a new venture, as more than three dozen biosimilars have been approved in the U.S. However, their impact has been limited by patent thickets and insurance contracting that favors brand-name drugs. Despite this, there are signs that biosimilars are gaining momentum. Other stories in the biosimilars market include biosimilar makers adopting different strategies to compete with top-selling drugs like Humira, and Sandoz spinning out of Novartis to become a standalone generic drugmaker. This trendline provides insights into the state of the biosimilars market and is independently produced by journalists. Sponsorship opportunities are available for those interested in reaching biopharma industry executives. Biopharma Dive is a product of Industry Dive, Inc. located in Washington, DC.Walgreens has experienced a $6 billion loss due to the depreciation of the value of VillageMD, resulting in the closure of 140 VillageMD locations. CMS has implemented new regulations to streamline Medicaid and CHIP enrollment processes. UCI Health has completed a $975 million purchase of four Tenet hospitals, while Ascension is divesting three hospitals in northern Michigan. Additionally, over 2,000 nurses are planning to strike in Santa Clara County. Healthcare organizations are facing challenges related to staffing shortages, and technology is being recommended as a solution. UnitedHealth is offering loans to providers affected by cyber attacks, and efforts are being made to keep 'site neutral' policies alive. University of Michigan Health workers have unionized. Healthcare Dive provides insights on various topics including health IT, policy and regulation, insurance, digital health, and value-based care.

Hello Brave Friends! In this story episode, #172, we enter the world of a parent living on unstable ground. An emotional state riddled with fault lines, shifting plates and the possibility that even a fun outing could cause an earthquake of a seizure in her child's body.Erin Rusling's daughter was born with Dravet Syndrome, a rare and severe form of Epilepsy that causes prolonged seizures. Almost two, at the time of this story, Erin's daughter had already had many seizures and had come out of them with minimal measures, but the BIG ONE was never impossible and always lurking. Welcome to today's story episode: Walking on Eggshells with Epilepsy.Erin is a wife, mom of 2 human children and 3 fur children. She loves making pancakes on Sunday mornings, planning family vacations and listening to true crime podcasts. She stays busy balancing work, family, Dravet medical research and looking for her cold cup of coffee that she knows is around here somewhere. She believes that research and advocacy is the most important part of being a rare parent.Brave Together is the podcast for We are Brave Together, a not-for-profit organization based in the USA. The heart of We Are Brave Together is to strengthen, encourage, inspire and validate all moms of children with disabilities and other needs in their unique journeys. Find our first book from We Are Brave Together coming May 1st here.JOIN the international community of We Are Brave Together here.Donate to our Retreats and Respite Scholarships here.Donate to keep this podcast going here.Can't get enough of the Brave Together Podcast?Follow our Instagram Page @wearebravetogether or on Facebook.Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.orgIf you have any topic requests or if you would like to share a story, leave us a message here.Please leave a review and rating today! We thank you in advance!Disclaimer

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200!   Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A    The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.   Repurposing:  Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we've realized that we don't like him”. Very harsh but very real to say”   Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38   List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ  Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs  Fycompa® (perampanel) - Need to have a webinar on this.   Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone.  Wow.   Ethics. Is it ethical to sit back and let our kids suffer?   Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen!  Thank you to those working on CZI grant too!   Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html   Ed said: Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24  https://www.rifton.com/  (9 teams signed up as of 2/23 - we had 28 teams in 2023;) Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj)  Added to Paulina's blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/);  Videos include Science Day Recap as well as a separate video of Mike's recap on “Where are we now?”, a summary of how parents can prepare for what's coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F). SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact stacey@curesyngap1.org #SyngapConf SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ Addison's Warrior Story - https://curesyngap1.org/syngap-warriors/addison/ We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you're not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/ Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20 We're looking for state representatives and state advocates - fill out this form if you're interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources State Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)   Upcoming Rare Disease Day - join us in DC; two blog posts:Rare Disease Day 2024 - what is it and how can you help SYNGAP1? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Fundraising Getting organized:MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/  2nd annual Golf Tourn in Canada 6/8 CFTC early-mid Sept? Link to past events is here:  https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/  3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/  4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here:  https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it's ready https://Syngap.Fund/24Pre   Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 134 of #Syngap10 - Feb 24, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

MedLink Neurology Podcast is delighted to feature selected episodes from BrainWaves, courtesy of James E Siegler MD, its originator and host. BrainWaves is an academic audio podcast whose mission is to educate medical providers through clinical cases and topical reviews in neurology, medicine, and the humanities, and episodes originally aired from 2016 to 2021. Originally released: March 8, 2018 Cigarettes can offset Parkinson disease. Alcohol can reduce the risk of heart attack. Can the case be made that marijuana has health benefits too? Produced by James E Siegler. Music by Montplaisir and Kevin McLeod. Voiceover by Erika Mejia. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision-making. Or, if you're a patient with seizures, this doesn't mean you should start smoking pot now. Be smart. REFERENCES Brodie MJ, Ben-Menachem E. Cannabinoids for epilepsy: What do we know and where do we go? Epilepsia 2018;59(2):291-6. PMID 29214639Cunha JM, Carlini EA, Pereira AE, et al. Chronic administration of cannabidiol to healthy volunteers and epileptic patients. Pharmacology 1980;21(3):175-85. PMID 7413719Devinsky O, Cross JH, Laux L, et al. Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome. N Engl J Med 2017;376(21):2011-20. PMID 28538134Maa E, Figi P. The case for medical marijuana in epilepsy. Epilepsia 2014;55(6):783-6. PMID 24854149  We believe that the principles expressed or implied in the podcast remain valid, but certain details may be superseded by evolving knowledge since the episode's original release date. 

On October 19, 2023 we spoke with MacKenzie Howard on the genetics and neurophysiology of Dravet syndrome, a severe genetic and developmental form of epilepsy. We learned how the a single genetic mutation can lead to a cascade of physiological defects during development. Guest: MacKenzie Howard, Assistant Professor in the Departments of Neurology and Neuroscience and the Center for Learning and Memory at the Dell Medical School, University of Texas at Austin. Participating: Jenny Hsieh, Department of Neuroscience, Developmental and Regenerative Biology, UTSA Host: Charles Wilson, Department of Neuroscience, Developmental and Regenerative Biology, UTSA Thanks to Jim Tepper for original music

Dravet syndrome is a rare, severe epilepsy caused by changes in a gene called SCN1A. The changes cause the gene to stop functioning normally. But not everyone with this type of genetic change develops Dravet syndrome, and people with Dravet also have a wide range of clinical characteristics, which can't be fully explained by these changes. What else is going on? We spoke with Dr. Sanjay Sisodiya about a recent publication on genomic influences in Dravet syndrome.This episode is based on a recent publication in the journal Brain:Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic' conditionDravet syndrome is a rare severe epilepsy typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, Dravet syndrome also has phenotypic heterogeneity, which cannot be explained by clinical factors or SCN1A variants. This relatively small study (34 adults) found that additional genomic variation contributes to the diversity of phenotypes found in Dravet syndromes. The authors suggest that the SCN1A variant may need to act against a "broadly compromised genomic background" to generate the full Dravet syndrome phenotype, and that genomic resilience may contribute to a reduction in mortality risk among adults with Dravet syndrome.   The International League Against Epilepsy invites you to explore the ILAE Academy: Interactive, practice based online courses for health care professionals who diagnose and treat epilepsy. Find more information at ilae-academy.org. Support the showSharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.The International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, Twitter, and Instagram.

El venezolano Rafael García superó el sábado su reto de correr durante 25 horas seguidas en Goald Coast, Australia, recorriendo 133 kilómetros para recaudar fondos por la investigación de tratamientos contra la epilepsia y apoyar a las familias que, como la suya, tienen algún miembro con esta condición. Su hija de tres años, Sofi, quien padece el síndrome de Dravet, fue la inspiración que le motivó en este desafío organizado por “Walk for Epilepsy”. Rafael relata cómo un desconocido donó una sustanciosa cantidad al verle correr en la localidad de Miami. Escucha la historia.

Jim Brennan of McKelvey Homes talks with Tom Ackerman about the fundraiser 'Dance for Dravet'. Plus Tom goes through the MLB playoff picture.  

This week, Lauren interviews the Budgetdog himself, Brennan Schlagbaum. Brennan talks about parenthood and gets into what it's like to parent a special needs child. Brennan and his wife Erin have an almost-2-year-old with Dravet syndrome. One theme woven throughout is the importance of having time, money, and health at the same time. Then, the two focus on the topic at hand: investing for your kids. The Schlagbaums started investing for their first child, Logan Lee, before she was even born. They're currently utilizing a brokerage, 529, and Roth IRA for their kid (she does baby modeling). Guess what? They have a second baby on the way in September! They've started investing for her now too. Brennan also tells Lauren about ABLE accounts. Then, they jump into the WHY behind investing for your kids, and balancing helping your kids versus making them entitled. Brennan says, “Create trust fund babies in a good way.” They briefly touched on UTMA & UGMAs. Don't forget, though, to take care of yourself and your retirement before investing for your kids. Brennan leaves us off with one more thing you can use to invest for your kids: real estate. If you liked this episode, you'll also like 27, Teachable Moments for Kids and 129 with the Wealth Dad. About Brennan: Brennan Schlagbaum is a 31-year-old entrepreneur and personal finance influencer, but there's more to the story than that. When Brennan and his then-fiancée Erin were “normal” 24-year-olds “building their life,” they couldn't shake the oppressive feeling their mountain of debt gave them. Before they even said “I do” they had a mortgage, student loans, car debt, and consumer debt totaling over $300,000. As a numbers guy – Brennan is a CPA – he couldn't live like this. Fast forward to today, the Schlagbaums have paid off all that debt and eclipsed $1,000,000 net worth. During their journey, it became clear to Brennan that he was meant to help others realize and achieve the same financial success that they had achieved, thus the Budgetdog empire was born. Currently, Brennan and his wife Erin live in Dallas, Texas, with their daughter Logan Lee, with another on the way. Connect with Brennan: https://www.instagram.com/budgetdog/ https://twitter.com/Budgetdog_ https://www.youtube.com/c/Budgetdog https://www.tiktok.com/@budgetdog_ https://www.facebook.com/budgetdog/ https://www.linkedin.com/in/brennan-schlagbaum-cpa-1b2b7338/ Connect with Lauren: ⁠https://twitter.com/AdultingIsEasy⁠ ⁠https://www.instagram.com/adultingiseasyreal/⁠ ⁠https://www.housemoneymedia.com/

Long trip, but first… Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors

Paige Figi's daughter Charlotte was only 3 months old when she started having regular seizures, ultimately being diagnosed with Dravet's Syndrome. By the time she was four, after a gamet of pharmceuticals have proven ineffective, Charlotte was on life support with only days to live. Desperate, Paige had begun researching plant medicine and found a high concentration Cannabanoid (CBD) from the hemp plant. She watched in disbelief as Charlotte began improving and the near constant seizures became infrequent. In this powerful conversation, we discuss Paige's early life as a rescue diver, her role as a military spouse, Charlotte's heartbreaking health struggles, how Paige began helping other families, the Coaltition for Access, the Major League Baseball team who is standing behind CBD and so much more.

First off, apologies from our team for the late posting, I had a sudden medical emergency myself that put me in the hospital.  But... we are back and will be posting a new episode on that incident in the near future!  Thank you for trusting us to return to show production, even if we are 30 hours late!  We are running with back to back reruns based on listeners requests.  For this week's show, let me re-introduce you to Meg Pecora from our first season in July of 2018. At the time Meg was a recent college graduate from Columbia in Chicago. Now she is a recently engaged artist with chronic pain due to Fibromyalgia.  She was approved for the Illinois medical cannabis program and discusses the process of obtaining the authorization and finally "prescription" for medical cannabis as a pain reliever.  ​ Medical marijuana uses the marijuana plant or chemicals in it to treat diseases or conditions. It's basically the same product as recreational marijuana, but it's taken for medical purposes. The marijuana plant contains more than 100 different chemicals called cannabinoids. Each one has a different effect on the body. Delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) are the main chemicals used in medicine. THC also produces the "high" people feel when they smoke marijuana or eat foods containing it. ​"The greatest amount of evidence for the therapeutic effects of cannabis relate to its ability to reduce chronic pain, nausea and vomiting due to chemotherapy, and spasticity [tight or stiff muscles] from MS," Bonn-Miller says. ​Medical marijuana received a lot of attention a few years ago when parents said that a special form of the drug helped control seizures in their children. The FDA recently approved Epidiolex, which is made from CBD, as a therapy for people with very severe or hard-to-treat seizures. In studies, some people had a dramatic drop in seizures after taking this drug.  ​The cannabidiol Epidiolex was approved in 2018 for treating seizures associated with two rare and severe forms of epilepsy, Lennox-Gastaut syndrome and Dravet syndrome. In addition, the FDA has approved two man-made cannabinoid medicines -- dronabinol (Marinol, Syndros) and nabilone (Cesamet) -- to treat nausea and vomiting from chemotherapy.  ​ (credits: WEBMD & Marcel Bonn-Miller Ph.D.)

TWiN answers listener questions about Alzheimer's disease, glaucoma and the microbiota, Dravet's Syndrome, schizophrenia, brain development, and chips implanted in the human brain. Hosts: Vincent Racaniello, Jason Shepherd, Timothy Cheung, and Vivianne Morrison Subscribe (free): Apple Podcasts, Google Podcasts, RSS Links for this episode Letters read on TWiN 36 Timestamps by Jolene. Thanks! Music is by Ronald Jenkees Send your neuroscience questions and comments to twin@microbe.tv

WISCONSIN MUSIC PODCAST Amplifying Wisconsin Music Episode 092   Joey's Song raises the funds needed to support cutting-edge research and vital patient services in support of pediatric epilepsy and children with special needs.   HOW JOEY'S SONG RAISES FUNDS Because of Joey's love for music, our foundation uses music as our primary fundraising vehicle. Each year, we host a benefit concert that features multi-platinum recording artist and 3-time Grammy winner Butch Vig and his band, The Know-It-All Boyfriends (aka KIAB), who serve as a house band to a steady stream of musical stars. Our Joey's Song family of artists include: Brian Aubert (Silversun Pickups); Charlie Berens (The Manitowoc Minute); Peter Buck and Mike Mills (R.E.M.); Neko Case; Rosanne Cash; Miguel Cervantes (Hamilton); Cory Chisel; Chris Collingwood (Fountains Of Wayne); Ralph Covert (The Bad Examples); Cowboy Junkies; Crash Test Dummies; Marshall Crenshaw; Justin Currie (Del Amitri); Tanya Donelly and Gail Greenwood (Belly); Butch Vig and Duke Erikson (Garbage); Steve Forbert; Robbie Fulks; Laura Jane Grace (Against Me!); Jon Dee Graham (True Believers); Kay Hanley (Letters To Cleo); Joel Hodgson (Mystery Science Theater 3000); Kelly Hogan; Wally Ingram (Sheryl Crow); Jewel; Freedy Johnston; Sam Llanas (BoDeans); Gary Louris and Mark Olson (The Jayhawks); Jesse Malin; Patterson Hood (Drive-By Truckers); Scott McCaughey (Minus 5); Michael Mcdermott; Rhett Miller (Old 97s); Montgomery Gentry; Dan Navarro (Lowen & Navarro); Miles Nielsen; Rick Nielsen and Daxx Nielsen (Cheap Trick); Glen Phillips (Toad The Wet Sprocket); Dave Pirner (Soul Asylum); Linda Pitmon (Zuzu's Petals); Brian Ray (Paul Mccartney); Matthew Ryan; Trapper Schoepp; Jody Stephens (Big Star); Ken Stringfellow (The Posies); Aaron Tippin; Zach Williams (The Lone Bellow); and Steve Wynn (Dream Syndicate). Since Joey's death in 2010, we have produced 5 charity compilation CDs featuring rare and previously unreleased music from nationally known, award-winning musicians.  ​ Our CDs are all available as digital downloads. Radio stations from Australia to the UK to South America to Japan to Sweden and everywhere in between have played our songs. CDs have been downloaded in over 25 countries worldwide.   Joey's Song was started in 2010 following the death of four-year-old Joey Gomoll, who passed one week shy of his fifth birthday. Joey suffered from a rare and debilitating form of epilepsy known as Dravet Syndrome. Dravet's caused persistent seizures which were never able to be controlled through medications leading to severe learning disabilities. While Dravet's robbed Joey of the ability to speak, Joey remained a happy and fun-loving child. He was happiest when music was playing, allowing him to hum, drum, and sing in his own way. To be present when music was playing meant only one thing, that Joey would soon have you dancing and enjoying the music with him.

Outrora defensor da autonomia do médico, agora o Conselho Federal de Medicina (CFM) perde força ao tentar restringir o uso do canabidiol para poucos contextos clínicos? Quem deve tratar deste tema, o CFM, a Agência Nacional de Vigilância Sanitária (Anvisa), ou ambos? No primeiro episódio da sétima temporada do podcast Conversa de Médico, o advisor de psiquiatria do Medscape em português Dr. Sivan Mauer recebe seu colega Dr. Marco Bessa, especialista em psiquiatria da infância e adolescência, e em dependência química, para falar sobre a Resolução CFM Nº 2324 de 11/10/2022, publicada às vésperas das eleições presidenciais de 2022, que “Aprova o uso do canabidiol para o tratamento de epilepsias da criança e do adolescente refratárias às terapias convencionais na Síndrome de Dravet e Lennox-Gastaut e no Complexo de Esclerose Tuberosa”. Aperte o play e ouça o interessante debate sobre essa medida que gerou uma intensa resposta da sociedade civil ― sobretudo na internet.

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/  Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888    CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html  Total: https://www.justgiving.com/fundraising/ufd-cftc-2022  Tweet: https://twitter.com/UFDTech/status/1585640994652889089  Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8  Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU  #S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU   FOUR EVENTS LA: 11/1: https://epilepsyawarenessday.org/event-info/information/  ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap  BOSTON:  11/13 Call Sandy. NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path  RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377  Another incidence paper!  Thanks Maddie Gillentine, PhD: https://twitter.com/maddieag/status/1586421844566908928  4/100 number: https://twitter.com/maddieag/status/1586422427076022273  ASOs ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides  Sad news KCNT1 News: https://twitter.com/cureSYNGAP1/status/1585613781467484160 Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705 Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001  Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674  Minor Miracle -  Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - October 31, 2022  #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888 CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html Total: https://www.justgiving.com/fundraising/ufd-cftc-2022 Tweet: https://twitter.com/UFDTech/status/1585640994652889089 Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8 Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU #S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU FOUR EVENTS LA: 11/1: https://epilepsyawarenessday.org/event-info/information/ ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap BOSTON: 11/13 Call Sandy. NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 Another incidence paper! Thanks Maddie Gillentine, PhD: https://twitter.com/maddieag/status/1586421844566908928 4/100 number: https://twitter.com/maddieag/status/1586422427076022273 ASOs ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Sad news KCNT1 News: https://twitter.com/cureSYNGAP1/status/1585613781467484160 Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705 Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001 Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674 Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - October 31, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

On Sports On A Sunday Morning, Tom Ackerman is joined by Nate Gatter to discuss Mizzou football, STL City SC and what to expect from the club.  Also Tom was joined by Jim Brennen to talk about Dance for Dravet and Sabrina Cockerham promotes the light foundation putting for the kids.

COMMUNITY  Two blogs you must read: - Charlie https://syngap.fund/charlie  - MDBR https://syngap.fund/unite    Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w    LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting?  Well now you can go too: https://dravetfoundation.org/events/dsf-conference/  - Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o - Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E - Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw - Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16    FUNDRAISERS - MICE: Help us Make 2!  https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/  - 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap  - 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818    Episode 67 of #Syngap10 - July 18, 2022  #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration 

COMMUNITY Two blogs you must read: - Charlie https://syngap.fund/charlie - MDBR https://syngap.fund/unite Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/ - Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o - Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E - Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw - Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16 FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ - 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 67 of #Syngap10 - July 18, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Brett Parsons will be joining us for a chat tonight, Brett is the father to Samuel 12 and Bradley, who has Dravet Syndrome and is 9. We will talk about what challenges, triumphs and inspiration bring up a child with a disability, what impact it has had on his family and of course the impact it has on Brett himself.What is Dravet Syndrome?Dravet Syndrome is a rare neurological condition that encompasses treatment-resistant epilepsy, intellectual disability and a spectrum of associated conditions (known as ‘comorbidities'), which may include autism, ADHD, behaviours that challenge and difficulties with speech, mobility, eating and sleep. Where to find help with Dravet?www.dravet.org.uk#disability #disabilityawareness #disabled #wheelchair #inclusion #autism #chronicillness #wheelchairlife #specialneeds #accessibility #love #chronicpain #invisibleillness #autismawareness #disabilityadvocate #mentalhealth #cerebralpalsy #disabilityrights #disabilityinclusion #spinalcordinjury #downsyndrome #disabilities #disabilitypride #abilitynotdisability #disabilitylife #handicap #diversity #amputee #asdSupport this show http://supporter.acast.com/bcb. See acast.com/privacy for privacy and opt-out information.

Dravet Syndrome is a severe genetic epilepsy characterized by lifelong seizures and neurodevelopmental impairment that starts in infancy. Camp4 is developing an RNA therapy that it believes can reduce the frequency and severity of seizures, or eliminate them, by upregulating a gene that underlies the condition. We spoke to Ann Barbier, chief medical officer of Camp4 Therapeutics, about Dravet syndrome, the company's platform technology to develop therapies that can upregulate gene expression, and the potential to apply its approach to a broad range of conditions.

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022 Industry news! - Fintepla for LGS! Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113 - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178 We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn Thank you Julie for your help making mice, we are really having fun accelerating science. Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF. All costs $. Global: Victoria is at Dravet in Spain with Katrien from the Netherlands. How cool is that? Denmark is next week. BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues. We are so lucky to have this code, USE IT. I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors. USE THE CODE… F78.A1 Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Advice time: Build #TeamYourKid Our kids don't get simpler or smaller Babysitters and community members who know them now are their advocates later Double up on Neuros (unless you being seen by rockstars who are close) Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasons Second opinions never hurt The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list. Reminder in last episode (google #S10e53) for all the events this year, but coming up fast: Jackie's webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson's webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 54 of #Syngap10 - April 1, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022  Industry news! - Fintepla for LGS!  Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113 - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178  We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn Thank you Julie for your help making mice, we are really having fun accelerating science.  Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF.  All costs $. Global: Victoria is at Dravet in Spain with Katrien from the Netherlands.  How cool is that?  Denmark is next week. BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues.  We are so lucky to have this code, USE IT.  I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors.  USE THE CODE… F78.A1 Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Advice time: Build #TeamYourKidOur kids don't get simpler or smaller Babysitters and community members who know them now are their advocates later Double up on Neuros (unless you being seen by rockstars who are close)Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasonsSecond opinions never hurt The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list. Reminder in last episode (google #S10e53) for all the events this year, but coming up fast: Jackie's webinar on Severe Behaviors, Wednesday April 6th.  https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw  Dr. Anderson's webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg  2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022  This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818  Episode 54 of #Syngap10 - April 1, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology