Podcasts about angelman

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.AstraZeneca has recently made a significant investment of up to $1 billion in cell therapy through the acquisition of esobiotec. This move is part of AstraZeneca's larger strategy to expand in the cell therapy space, positioning itself to be a major player in the market. Dyne is also looking to file for accelerated approval for its Duchenne exon skipping oligomer, while Taiho Pharmaceutical has acquired ADC partner Araris for up to $1.1 billion. Alnylam is expected to enter the transthyretin amyloid cardiomyopathy market, which is projected to reach $11.2 billion by 2030.Sino Biological has developed reagents for the 2025-2026 influenza vaccine strains, offering a range of recombinant proteins for vaccine development. The pharmaceutical industry is seeing significant activity in various therapy areas, with companies making strategic investments and advancements in research and development.Alnylam is awaiting approval for their drug Amvuttra in the transthyretin amyloid cardiomyopathy market, which is currently dominated by Pfizer and BridgeBio. The obesity drug market is becoming increasingly competitive, with companies focusing on overall health benefits rather than just weight loss. Biopharma companies are now exploring the use of CAR T cell therapies for autoimmune disorders, with several readouts expected this year. Ionis and Ultragenyx are competing to develop treatments for Angelman syndrome, while Neuren is trying to catch up.Overall health outcomes are becoming more important in the obesity drug market, with successful studies in therapeutic areas like cardiovascular and sleep apnea providing a market advantage. Other news includes flu vaccine recommendations from the FDA and updates on drugs for alcohol use disorder, plaque psoriasis, breast cancer, and weight loss. The biopharma industry continues to evolve, with readers encouraged to provide suggestions for future coverage topics.

El síndrome de Angelman es un trastorno genético que ocurre por una alteración en el cromosoma 15. Esta es una enfermedad minoritaria que afecta al sistema nervioso, manifestándose a través de un retraso significativo en el desarrollo, dificultades severas en el habla, problemas de equilibrio y coordinación (ataxia), convulsiones frecuentes y una conducta característicamente alegre, con risas y sonrisas frecuentes. Hoy, para hablar de este síndrome, tenemos con nosotros a Nora Branni, madre una niña con síndrome de Angelman, Lía. Con Nora hablaremos de cuestiones generales como en qué consiste este síndrome y cómo se manifiesta, del proceso diagnóstico de Lía y de otros temas como su experiencia buscando un cole para ella, ensayos clínicos e investigaciones sobre esta entidad y recursos interesantes que recomienda. Quiero contribuir a dar voz a enfermedades minoritarias. Cuando te encuentras un caso cercano sabes muy bien que la información al respecto vale oro, y en este sentido, si tienes un ser querido con Angelman, alguna enfermedad minoritaria o simplemente quieres aprender más sobre estas cuestiones, te recomiendo muchísimo quedarte hasta el final. Os dejo con la entrevista con Nora Branni

El síndrome de Angelman es un trastorno genético que ocurre por una alteración en el cromosoma 15. Esta es una enfermedad minoritaria que afecta al sistema nervioso, manifestándose a través de un retraso significativo en el desarrollo, dificultades severas en el habla, problemas de equilibrio y coordinación (ataxia), convulsiones frecuentes y una conducta característicamente alegre, con risas y sonrisas frecuentes. Hoy, para hablar de este síndrome, tenemos con nosotros a Nora Branni, madre una niña con síndrome de Angelman, Lía. Con Nora hablaremos de cuestiones generales como en qué consiste este síndrome y cómo se manifiesta, del proceso diagnóstico de Lía y de otros temas como su experiencia buscando un cole para ella, ensayos clínicos e investigaciones sobre esta entidad y recursos interesantes que recomienda. Quiero contribuir a dar voz a enfermedades minoritarias. Cuando te encuentras un caso cercano sabes muy bien que la información al respecto vale oro, y en este sentido, si tienes un ser querido con Angelman, alguna enfermedad minoritaria o simplemente quieres aprender más sobre estas cuestiones, te recomiendo muchísimo quedarte hasta el final. Os dejo con la entrevista con Nora Branni REDES: Twitter: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@entiendetusalud⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Instagram: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@entiendetusalud⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ TikTok: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠@entiendetusalud⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Email: hola@entiendetusalud.com Youtube: Entiende tu Salud

Angelmanův syndrom je genetické onemocnění. Způsobuje ho vada na patnáctém chromozomu. Malí pacienti, kterým se také říká Andělské děti, mají epileptické záchvaty a poruchy spánku, což velmi ovlivňuje celý chod rodiny. Po celý život zůstávají angelmánci malými dětmi.Všechny díly podcastu Radioporadna můžete pohodlně poslouchat v mobilní aplikaci mujRozhlas pro Android a iOS nebo na webu mujRozhlas.cz.

Angelmanův syndrom je genetické onemocnění. Způsobuje ho vada na patnáctém chromozomu. Malí pacienti, kterým se také říká Andělské děti, mají epileptické záchvaty a poruchy spánku, což velmi ovlivňuje celý chod rodiny. Po celý život zůstávají angelmánci malými dětmi.

It is a privilege to welcome back for the fifth time onto The Jake's Take with Jacob Elyachar Podcast – the one and only Drew Angelman.  Drew is the creator and founder of Angelcake Entertainment! Since he last visited the podcast, Drew covered several Challenge spin-offs – The Challenge: World Championship, The Challenge USA: Season Two, and The Challenge All-Stars: Season Four.  He also covered The Challenge: Battle for a New Champion and the current season – The Challenge: Battle of the Eras. He also created top moments of the show's iconic champions, tackling some of the franchise's biggest rumors, and broke down how Wes Bergmann and Kenny Santucci's legendary rivalry still impacted the franchise. He also made a two-part documentary covering show icon Cara Maria Sorbello's time on the long-running MTV Reality TV show.   He also conducted several interviews with cast members. Brandon Nelson, Dr. Kefla Hare, Kyland Young, and Troy Cullen are some of the people who visited Drew Angelman's platform. Fans can also see Drew sit down with The Challenge 40 cast members on his Patreon.   On this edition of The Jake's Take with Jacob Elyachar Podcast, Drew Angelman gave his take on Battle of the Eras and his thoughts on the social media drama and previewing The Challenge: All-Stars' fifth season.Let's connect on social media! Visit my channels on:A) Facebook: https://www.facebook.com/JacobElyachar/B) Instagram: https://www.instagram.com/jacobelyachar/C) Threads: https://www.threads.net/@jacobelyacharD) TikTok: https://www.tiktok.com/@therealjacobelyacE) YouTube: https://www.youtube.com/@JacobElyacharBecome a supporter of this podcast: https://www.spreaker.com/podcast/jake-s-take-with-jacob-elyachar--4112003/support.

Un reto solidario por Martina suma 550 kilómetros que deben ayudar a recaudar fondos para tratar a esta niña turolense de 8 años con síndrome de Angelman. Además, en Ayerbe están recogiendo setas en sus archifamosas jornadas micológicas.

"El Polideportivo” vuelve a la carga con toda la actualidad deportiva de la Marina Baja, ofreciendo a su audiencia lo mejor del deporte local y mucho más. Desde las 19:00h y hasta las 21:00h, Jorge Berna comandará dos horas intensas con noticias, entrevistas y temas de interés para todos los amantes del deporte.El programa arrancará con un completo repaso a los últimos acontecimientos y noticias que han marcado la semana deportiva. Analizaremos todas las clasificaciones, además de presentar los encuentros clave del fin de semana para nuestros equipos de la Marina Baja, brindando a nuestros oyentes la información que necesitan para seguir de cerca a sus equipos favoritos.Contaremos con la visita especial de una auténtica leyenda del voleibol nacional y de Benidorm: Raúl Mesa. Con él, repasaremos los éxitos cosechados por el Club Voley Playa Poniente en esta temporada, que ya se perfila como la mejor en la historia del club.También dedicaremos un espacio a la solidaridad, hablando de un reto que busca recaudar fondos y dar visibilidad a una enfermedad rara: el Síndrome de Angelman. Martina, nuestra protagonista de tan solo 8 años, inspira esta iniciativa, que busca crear conciencia y brindar apoyo a las familias afectadas por esta condición.En nuestro apartado de salud y deporte, profundizaremos en la suplementación alimentaria, abordando su importancia y utilidad. Explicaremos los beneficios y las posibles contraindicaciones para quienes buscan mejorar su rendimiento físico de manera saludable y responsable.Para cerrar, hablaremos de la historia de Dick Fosbury y su innovador estilo de salto, un hito que cambió para siempre el mundo del atletismo. Te esperamos hoy desde las 19:00h a través del 104.1 FM, en Spotify, Ivoox, y en directo en nuestras redes: YouTube, TikTok, Facebook e Instagram. Únete a esta cita ineludible con el deporte y comparte con nosotros dos horas repletas de pasión y emociones.

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

00:25 Genová terapie Angelmanova syndromu04:44 Testování léku na Angelmanův syndrom na myších09:00 Korunní komora v Katedrále svatého Víta13:04 Nemoci srdce a oboukomorové stimulátory17:07 Rozhovor s místopředsedou české kardiologické společnosti, Alešem Linhartem20:55 Rozhovor s regionálním vedoucím ATLS kurzů Jorgenem Jorgensenem

00:25 Genová terapie Angelmanova syndromu04:44 Testování léku na Angelmanův syndrom na myších09:00 Korunní komora v Katedrále svatého Víta13:04 Nemoci srdce a oboukomorové stimulátory17:07 Rozhovor s místopředsedou české kardiologické společnosti, Alešem Linhartem20:55 Rozhovor s regionálním vedoucím ATLS kurzů Jorgenem JorgensenemVšechny díly podcastu Magazín Experiment můžete pohodlně poslouchat v mobilní aplikaci mujRozhlas pro Android a iOS nebo na webu mujRozhlas.cz.

Recapping Episode 5 with Drew Angelman!!!-Devin/Michele-Michele/Laurel-Laurel/Cara Maria-And much more!Twitter: @ChallengeFanPodInstagram: @challenge_fanatics_podcast

Llegó el día, 24 de agosto a las 8 horas arranca la Transibérica 2024 y empieza nuestro seguimiento día a día de la prueba. En este primer episodio previo a la salida hablamos con Javi Gamallo como miembro de la organización para que nos haga un análisis de lo que podemos esperar del evento. También aprovechamos la calma que precede a la tempestad para hablar un poco con dos participantes de esta TI24, Iñaki Padilla con un mensaje solidario dando a conocer el Síndrome de Angelman, también charlamos con Jesús Morente que nos contará su particular viaje desde Murcia hasta la salida en Bolzano. Muchas gracias por el seguimiento, ahora toca no despegar la vista de la pantalla siguiendo a todos esos puntos que irán recorriendo los diferentes puntos de control de esta nueva edición de Transibérica.

This week, Rachel and Chris interview the superstar members of the “Stepping Into AAC” project - Carole Zangari, Tabi Jones-Wohleber, Rachel Langley, and Michaela Ball! The “Stepping Into AAC” team shares about the core mission of the project: to introduce people to AAC, to guide them through the early months of using these new communication tools and strategies, and to offer resources to engage school teams and other caregivers. The program is divided into 20 parts with the intention to complete one part a week, making it more manageable!   Before the interview, Chris and Rachel share about their experience over the summer meeting up in Virginia! Chris also shares about Jennifer Wexton, a congresswoman with progressive supranuclear palsy who recently became the first person to use AAC on the floor of the House of Representatives!   Key Ideas This Episode:   Family-Centered AAC Education and Support:  The “Stepping Into AAC" project focuses on helping families understand and implement AAC through accessible training materials. These materials include videos, hands-on activities, and newsletters designed to empower families of individuals with Angelman syndrome and other AAC users by offering practical tools for communication development.   Habit Formation as Key to AAC Success: The “Stepping Into AAC” project emphasizes the importance of habit formation for long-term success with AAC. By breaking AAC learning into manageable steps and activities spread over 100 days, the program encourages families to develop habits that integrate AAC into daily life, making it more natural and sustainable over time.   Building Community Around AAC: The project recognizes the need for community, not just around the individual AAC learner but also for families. This includes support from other families on the AAC journey, professionals, and local communities, creating a sense of shared experience and providing much-needed encouragement and credibility to families advocating for their loved ones.   Links from This Episode:   Stepping Into AAC: https://www.angelman.org/stepping-into-aac/    Eleven Labs: https://elevenlabs.io/

Actor Colin Farrell has launched a foundation in honor of his son James who has Angelman's Syndrome, a rare neurogenetic disability. Corinne Van Dusen gives us the details in her entertainment report.

What responsibilities should dog owners have if their dog causes harm to a human or their furry friend? Grant Hardy leads the discussion on Trending Headlines . Actor Colin Farrell has launched a foundation in honor of his son James who has Angelman's Syndrome, a rare neurogenetic disability. Corinne Van Dusen gives us the details in her entertainment report. August is Spinal Muscular Atrophy Awareness Month. On The Buzz Laura Bain tells us about an advocate from Ontario with SMA who's leveraging social media to improve experiences for travelers with disabilities. Winnipeg Community Reporter Vic Pereira tells us about a multicultural festival where you can take a trip around the world without needing a passport. On our Health Check-in, Leslie DePoe shares the seven pillars of self-care and metrics to track progress in our own self-care routine. Jenna White returns to the show for a discussion about growing a small business and lessons learned over 5 years serving up Indigenous Cuisine at Jenna's Nut Free Dessertery.

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.Florida has awarded additional Medicaid contracts to CVS, UnitedHealth, and Molina, after they were excluded from the first round of contracts in April. Meanwhile, Steward Health failed to attract qualified bidders during the first round of hospital sales. In other news, CMS has tightened rules for ACA brokers to prevent unauthorized plan switching. Commure is set to acquire AI scribe Augmedix in a $139 million deal to expand its documentation products. The healthcare industry is increasingly using AI to transform unstructured data and improve patient care. Additionally, online tools are being utilized to address gaps in mental healthcare services. AI and machine learning are also playing a crucial role in improving clinical trials by retaining participants, enhancing key performance indicators, and boosting query quality.The text discusses various updates in the medical technology industry on July 22, 2024. The FDA sent warning letters to Chinese syringe manufacturers, Embecta, a diabetes device firm, is considering a sale, Truvian raised $74 million for a blood test instrument, and a CrowdStrike outage affected US hospitals. Medtronic executive Stacey Churchwell spoke about the use of artificial intelligence in reducing false positives in cardiac monitors. Intuitive's Da Vinci 5 robot launch exceeded Wall Street expectations. The text also includes information on real-time vital signs data, Biden's healthcare legacy, and suggestions for further reading.Private biotech M&A activity has increased significantly, with acquisitions of private biotechs outpacing public offerings. Ionis is moving forward with plans for an Angelman drug that Biogen passed on, with a late-stage study set to begin next year. Meanwhile, J&J is seeking expanded approval for its antidepressant Spravato. The advanced therapeutic medicinal product (ATMP) sector is at the forefront of personalized medicine, with over 1,000 trials in development and potential disruption through manufacturing automation. In the oncology research space, there is fierce competition in the GLP-1 drug race as companies vie for a share of the obesity treatment market expected to surpass $100 billion by the end of the decade.Innovent's Phase III trial for their diabetes drug in China has been successful, bringing them closer to potential approval in the country. The drug, Mazdutide, is also being developed for weight management. Meanwhile, Lilly has received approval in China for their drug Tirzepatide for obesity, following Novo's approval for Semaglutide. Samsung Bioepis has received FDA approval for a biosimilar to AstraZeneca's Soliris. Novo and Lilly are looking to expand their GLP-1 pipelines beyond treating diabetes and obesity. Other news in the biopharma industry includes startups competing in the obesity space, GSK plotting Blenrep's return to market, and a procurement deal between IGA and the US government.Researchers in China conducted a small study using an "off the shelf" CAR-T cell therapy to treat patients with autoimmune diseases. The therapy, made with engineered cells from a healthy donor, resulted in deep remission of immune diseases and a reversal of inflammation and fibrosis in three patients after six months. This study marks a potential breakthrough in allogeneic CAR-T cell therapy for autoimmune diseases, offering a potentially cheaper and easier-to-manufacture alternative to approved autologous therapies. However, despite this progress, payment barriers need to be addressed to make these therapies accessible to patients. The study highlights the need for outside support to overcome barriers in the development and commercialization of cell and gene therapies. Additionally, the research landscape for cancer treatments continues to grow, with oncology being a significant area of growth for pharma drug development. The stud

Stephanie Azout Chaki es la presidenta de FAST Latam, organización dedicada a la terapéutica del síndrome de Angelman en Latinoamérica. Stephanie es diseñadora de profesión y reside en Bogotá, Colombia, junto a su esposo y sus tres hijos. Michelle, su segunda hija, fue diagnosticada con Angelman hace 11 años. Desde entonces Stephanie y su familia han sido activos en la comunidad Angelman y en FAST. En este episodio, conversamos con Stephanie y aprendemos más sobre este grupo dedicado a Latinoamérica, y ella nos cuenta de los programas de apoyo y guía que están desarrollando, así como su trabajo en sentar las bases para futuros ensayos clínicos del síndrome de Angelman en Latinoamérica.   Más información:  FAST Latam: https://cureangelman.lat/ Congreso Síndrome de Angelman Latinoamérica / Bogota 2024: https://cureangelman.lat/congreso-sindrome-de-angelman/   Show Notes: Subscribe: Mas Que Raras Podcast   Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter  

Summary In this episode of the Young Dad Podcast, Jey interviews Harry the Gorillagician, a gorilla who performs magic and is also a dad to a son with Angelman syndrome. They discuss the unique challenges and joys of parenting a child with special needs, the importance of mental health for everyone, and the need for understanding and support from others. They also touch on the role of high expectations in parenting and the importance of enjoying the process of watching children learn and grow. The conversation covers the importance of being a coach and a supportive parent in children's sports activities. It emphasizes the role of parents in creating bonding moments and celebrating their children's accomplishments. The challenges of co-parenting and raising a special needs child in different states are also discussed. The conversation concludes with some fun magic tricks and the advice to set high standards for children and instill in them their true worth. Takeaways Parenting a child with special needs comes with unique challenges and joys. Mental health is important for everyone, including children and parents. Understanding and support from others is crucial for parents of children with special needs. Setting high expectations for children can help them rise to the challenge and achieve more. Parents should sit back, relax, and enjoy the process of watching their children learn and grow. Being a coach and a supportive parent in children's sports activities is important for their development and bonding. Parents should create bonding moments and celebrate their children's accomplishments. Co-parenting and raising a special needs child in different states present unique challenges. Setting high standards for children and instilling in them their true worth is crucial. Magic tricks can be a fun way to engage with children and create memorable experiences. Chapters 00:00 Introduction and Welcome 08:00 The Gorilla Perspective 27:05 Setting Expectations 35:08 The Benefits of Team Sports 45:50 Challenges of Co-Parenting and Raising a Special Needs Child 53:49 Setting High Standards for Your Children 01:00:19 The Best Revenge is to Live Well Support the Pod! Subscribe to the Newsletter and find all the deals, specials, promos and partners of Young Dad Podcast on our Link.Tree- ⁠⁠https://linktr.ee/ballboyblog⁠ Joon App: Discount code: YNGDAD Listener Link: ⁠joonapp.io/youngdad⁠ Make sure to like, follow, subscribe, leave a review and show your support --- Support this podcast: https://podcasters.spotify.com/pod/show/youngdadpod/support

This week, Chris interviews Caroline Woeber! Caroline is an SLP specializing in AAC at Children's Hospital Colorado, including working at their Angelman/Chromosome 15 Disorder clinic. Caroline shares all about supporting communication and AAC in the hospital environment, training parents and caregivers about AAC, identifying next steps when teaching people with Angelman syndrome to use AAC, and more!   Before the interview, Chris and Rachel answer a fascinating listener question about a complex communicator at their school whose parents want the student to use sign language instead of AAC. However, the school is pushing for AAC only. Chris and Rachel unpack this question, noting that it is often best for complex communicators to have multiple familiar communication modalities available.   Key Ideas this Episode:  

Drew Angelman stops by the Microdose to talk about his most anticipated movies of 2024s 2nd Quarter with Kush Hayes!Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on BlueSky: @KushHayesSubscribe to the Microdose on:iTunes & Apple PodcastsSpotify© 2024 TheBosNet Family All Rights Reserved

Drew Angelman stops by the Microdose to talk about the results of the 2024 Academy Awards with Kush Hayes!Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on BlueSky: @KushHayesSubscribe to the Microdose on:iTunes & Apple PodcastsSpotify© 2024 TheBosNet Family All Rights Reserved

Today City Hall in Cork lights up blue for Angelman Day between 9pm and 10pm. To help mark the day, here is the podcast of Cork mum Judit Bodor who spoke to PJ in December 2022 about her lad Christopher. Check out Judit's posts here Hosted on Acast. See acast.com/privacy for more information.

ONCE UPON A GENE - EPISODE 217 Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell Terry Jo Bichell is a rare mom, neuroscientist and the founder of COMBINEDBrain, a nonprofit organization revolutionizing the approach to clinical treatments for rare genetic neurodevelopmental disorders by pooling efforts, studies and data.  EPISODE HIGHLIGHTS Can you share a little bit about yourself and how you came into the rare disease space? I am a mom of five grown kids and my youngest is 24 years old and has a diagnosis of Angelman syndrome. With that, everything that was interesting to me wasn't interesting anymore and I turned my attention to neurological, genetic and developmental things. I worked as a nurse and midwife before my youngest son was born and I took a particular interest in research. Research felt like it was taking forever and I had the innocent notion that I could push things faster if I only had the right science degree, so I went back to school and got a PhD in molecular neuroscience. What inspired you to form your organization, COMBINEDBrain? While I was working on my PhD, scientists figured out treatments for Angelman syndrome and a way to measure if the compounds were working was needed. I was drafted to work on the Angelman Biomarkers and Outcome Measures Alliance (A-BOM) and learned I could take what  I knew about Angelman and apply it to a lot of other similar disorders. I started COMBINEDBrain to take the lessons from A-BOM and expand it to as many other disorders as possible.  What are COMBINEDBrain's key services and programs? The biorepository has over 900 individuals represented and we collect all samples to be used for biomarker studies for use in stem cells. We have a COMBINEDBrain registry that any disorder member can use for free and transfer data into their own portal. Project FIND-OUT has a goal of facilitating early diagnosis of rare genetic neurodevelopmental disorders in infants based on 7 symptom categories. In the future, we'll also expand this offering to adults.  Can you tell us about the COMBINEDBrain Roadshow? Many of our participating member organizations are having conferences this year across the country. We have asked each organization to open their conference to other member organizations so we can collect COMBINEDBrain member samples at those sites. This allows us to meet local families and opens up an opportunity to stop by the conference and submit their donation. We can also send a mobile phlebotomist to patient homes to collect and submit samples.  LINKS AND RESOURCES MENTIONED COMBINEDBrain https://combinedbrain.org/ Angelman Syndrome Foundation https://www.angelman.org/ The Foundation for Angelman Syndrome Therapeutics https://cureangelman.org/ Simons Searchlight https://www.simonssearchlight.org/ Rare-X https://rare-x.org/ Probably Genetic https://www.probablygenetic.com/ AmbitCare https://ambitcare.com/geneticseizures/ Project FIND-OUT https://projectfindout.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

The nominations for 2024s 96th annual Academy Awards dropped the other day inspiring Drew Angleman and Kush Hayes to make 1st speculations on what Best Pictures theyve seen to date. Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on BlueSky: @KushHayesSubscribe to the Microdose on:iTunes & Apple PodcastsSpotify© 2024 TheBosNet Family All Rights Reserved

Drew Angelman stops by the Microdose to talk with Kush about his most anticipated movies of 2024! Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on BlueSky: @KushHayesSubscribe to the Microdose on:iTunes & Apple PodcastsSpotify© 2024 TheBosNet Family All Rights Reserved

Drew Angelman stops by the Microdose to talk with Kush about his favorite movies of 2023.Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on BlueSky: @KushHayesSubscribe to the Microdose on:iTunes & Apple PodcastsSpotify© 2023 TheBosNet Family All Rights Reserved

Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. The Chairperson for The Angelman Network Ursula Christel's adult son has the syndrome. Ursula joins us...

Three Todos: 1 - Come to the #SRFconf and be sure to buy dinner tickets! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund  2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz 3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   EEGS MATTER To get an EEG Biomarker, you need to collect EEGs.  Not simple. This eg from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997) https://www.sciencedirect.com/science/article/pii/S2667174321000380 Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1   SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud) Where's our paper?   Beacon Biosignals is a company we know: https://beacon.bio/   You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you. https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html    EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images).  Check out Tony's https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

"We didn't call the police right away." Those are the electric first words of this extraordinary novel about a biracial Korean American family in Virginia whose lives are upended when their beloved father and husband goes missing. Mia, the irreverent, hyperanalytical twenty-year-old daughter, has an explanation for everything--which is why she isn't initially concerned when her father and younger brother Eugene don't return from a walk in a nearby park. They must have lost their phone. Or stopped for an errand somewhere. But by the time Mia's brother runs through the front door bloody and alone, it becomes clear that the father in this tight-knit family is missing and the only witness is Eugene, who has the rare genetic condition Angelman syndrome and cannot speak. What follows is both a ticking-clock investigation into the whereabouts of a father and an emotionally rich portrait of a family whose most personal secrets just may be at the heart of his disappearance. Full of shocking twists and fascinating questions of love, language, and human connection, Happiness Falls (Hogarth Press, 2023) is a mystery, a family drama, and a novel of profound philosophical inquiry.  Happiness Falls was an instant New York Times bestseller. Angie's debut novel, Miracle Creek, won the Edgar Award, the ITW Thriller Award, the Strand Critics' Award, and the Pinckley Prize and was named one of the hundred best mysteries and thrillers of all time by Time, The Washington Post, Kirkus, and the Today show. One of Variety Magazine's inaugural “10 Storytellers to Watch,” Angie has written for The New York Times Book Review, The Washington Post, Vogue, Glamour, and numerous literary journals. She lives in northern Virginia with her family. Recommended Books: Kazuo Ishiguro, Never Let Me Go Naoki Higashida, The Reason I Jump Daniel Mason, North Woods Hang Kan, Greek Lessons  Chris Holmes is Chair of Literatures in English and Associate Professor at Ithaca College. He writes criticism on contemporary global literatures. His book, Kazuo Ishiguro as World Literature, is under contract with Bloomsbury Publishing. He is the co-director of The New Voices Festival, a celebration of work in poetry, prose, and playwriting by up-and-coming young writers. Learn more about your ad choices. Visit podcastchoices.com/adchoices

"We didn't call the police right away." Those are the electric first words of this extraordinary novel about a biracial Korean American family in Virginia whose lives are upended when their beloved father and husband goes missing. Mia, the irreverent, hyperanalytical twenty-year-old daughter, has an explanation for everything--which is why she isn't initially concerned when her father and younger brother Eugene don't return from a walk in a nearby park. They must have lost their phone. Or stopped for an errand somewhere. But by the time Mia's brother runs through the front door bloody and alone, it becomes clear that the father in this tight-knit family is missing and the only witness is Eugene, who has the rare genetic condition Angelman syndrome and cannot speak. What follows is both a ticking-clock investigation into the whereabouts of a father and an emotionally rich portrait of a family whose most personal secrets just may be at the heart of his disappearance. Full of shocking twists and fascinating questions of love, language, and human connection, Happiness Falls (Hogarth Press, 2023) is a mystery, a family drama, and a novel of profound philosophical inquiry.  Happiness Falls was an instant New York Times bestseller. Angie's debut novel, Miracle Creek, won the Edgar Award, the ITW Thriller Award, the Strand Critics' Award, and the Pinckley Prize and was named one of the hundred best mysteries and thrillers of all time by Time, The Washington Post, Kirkus, and the Today show. One of Variety Magazine's inaugural “10 Storytellers to Watch,” Angie has written for The New York Times Book Review, The Washington Post, Vogue, Glamour, and numerous literary journals. She lives in northern Virginia with her family. Recommended Books: Kazuo Ishiguro, Never Let Me Go Naoki Higashida, The Reason I Jump Daniel Mason, North Woods Hang Kan, Greek Lessons  Chris Holmes is Chair of Literatures in English and Associate Professor at Ithaca College. He writes criticism on contemporary global literatures. His book, Kazuo Ishiguro as World Literature, is under contract with Bloomsbury Publishing. He is the co-director of The New Voices Festival, a celebration of work in poetry, prose, and playwriting by up-and-coming young writers. Learn more about your ad choices. Visit podcastchoices.com/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/new-books-network

"We didn't call the police right away." Those are the electric first words of this extraordinary novel about a biracial Korean American family in Virginia whose lives are upended when their beloved father and husband goes missing. Mia, the irreverent, hyperanalytical twenty-year-old daughter, has an explanation for everything--which is why she isn't initially concerned when her father and younger brother Eugene don't return from a walk in a nearby park. They must have lost their phone. Or stopped for an errand somewhere. But by the time Mia's brother runs through the front door bloody and alone, it becomes clear that the father in this tight-knit family is missing and the only witness is Eugene, who has the rare genetic condition Angelman syndrome and cannot speak. What follows is both a ticking-clock investigation into the whereabouts of a father and an emotionally rich portrait of a family whose most personal secrets just may be at the heart of his disappearance. Full of shocking twists and fascinating questions of love, language, and human connection, Happiness Falls (Hogarth Press, 2023) is a mystery, a family drama, and a novel of profound philosophical inquiry.  Happiness Falls was an instant New York Times bestseller. Angie's debut novel, Miracle Creek, won the Edgar Award, the ITW Thriller Award, the Strand Critics' Award, and the Pinckley Prize and was named one of the hundred best mysteries and thrillers of all time by Time, The Washington Post, Kirkus, and the Today show. One of Variety Magazine's inaugural “10 Storytellers to Watch,” Angie has written for The New York Times Book Review, The Washington Post, Vogue, Glamour, and numerous literary journals. She lives in northern Virginia with her family. Recommended Books: Kazuo Ishiguro, Never Let Me Go Naoki Higashida, The Reason I Jump Daniel Mason, North Woods Hang Kan, Greek Lessons  Chris Holmes is Chair of Literatures in English and Associate Professor at Ithaca College. He writes criticism on contemporary global literatures. His book, Kazuo Ishiguro as World Literature, is under contract with Bloomsbury Publishing. He is the co-director of The New Voices Festival, a celebration of work in poetry, prose, and playwriting by up-and-coming young writers. Learn more about your ad choices. Visit podcastchoices.com/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/literature

„Představte si nejhorší možný scénář. My byli takoví, že jsme věřili v to nejlepší. Že nám dají cvičení, lék, že to syn dožene. A najednou se před vámi otevře černá jáma a vy spadnete na úplné dno. Na první konzultaci s lékařem nebyla přítomná žádná útěcha ani podpora. Padaly tam věty, že nemůžeme dělat vůbec nic,“ vzpomíná Lenka Hajgajda na moment, kdy se dozvěděla, že její syn má Angelmanův syndrom.Všechny díly podcastu Houpačky můžete pohodlně poslouchat v mobilní aplikaci mujRozhlas pro Android a iOS nebo na webu mujRozhlas.cz.

Drew Angelman stops by the Microdose to talk with Kush about his expectations for the Fourth Quarter of 2023.Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on Twitter @Kush_HayesMovie reviews at: www.TheBosNet.Family/reviewsSubscribe to the Microdose on:StitcheriTunes & Apple PodcastsSpotify© 2023 TheBosNet Family All Rights Reserved

Episode 151 brings author Angie Kim back to the podcast with her sophomore novel, Happiness Falls. Angie is carving out her niche with literary mysteries featuring children with disabilities or illnesses, drawing inspiration from her own family's encounters. I broke my own rules for podcast guests because Happiness Falls is now in the running for my #1 book of 2023 and it's the smartest book I've read all year! This post contains affiliate links through which I make a small commission when you make a purchase (at no cost to you!). CLICK HERE for full episode Show Notes on the blog. Highlights Angie shares a spoiler-free summary of Happiness Falls. Angie's own life experiences that shape her stories. How Angie's move as a pre-teen to the United States from South Korea influenced the happiness experiments in this novel. Angie's expectations going into her sophomore book release. How long Angie had been ideating and writing Happiness Falls. The differences in Angie's approach to writing this novel compared to her debut. How Angie discovered Angelman's Syndrome and decided to include it in her novel. The differences in perspectives between a parent of a child with disabilities and and the sibling of a child with disabilities as portrayed in Miracle Creek and Happiness Falls. Angie gives a small teaser about her next book! Angie's Book Recommendations [40:34] Two OLD Books She Loves Swamplandia! by Karen Russell | Amazon | Bookshop.org [40:45] Chemistry by Weike Wang | Amazon | Bookshop.org  [42:48] Other Books Mentioned: Joan Is Okay by Weike Wang [44:47] Two NEW Books She Loves Greek Lessons by Han Kang | Amazon | Bookshop.org [45:10] Hestia Strikes a Match by Christine Grillo | Amazon | Bookshop.org [48:05] Other Books Mentioned: The Vegetarian by Han Kang [45:27] One Book She Didn't Love The Godfather by Mario Puzo | Amazon | Bookshop.org [50:48] NEW RELEASE She's Excited About Same Bed Different Dreams by Ed Park (November 7, 2023) | Amazon | Bookshop.org [53:05] Other Books Mentioned: Cloud Atlas by David Mitchell [54:09] Last 5-Star Book Angie Read Tomorrow, and Tomorrow, and Tomorrow by Gabrielle Zevin | Amazon | Bookshop.org [54:24] Other Links Ep. 22: Angie Kim (Author of Miracle Creek)

In this episode, I sat down with Anthony & Jessica Cicali to learn how they parent their daughter, Abbigail who has been diagnosed with Angelman syndrome. It is a genetic disorder that affects the nervous system. It results in delayed development, challenges with their speech, balance and intellectual disability. There is no cure. However, the Cicali's have rallied for over 13 years through their faith, resilience, and a large community of supporters.   Intro/Interlude/outro music: John_Yasutis from Pixabay [Inspiring Cinematic] Interlude music: GoodBMusic from Pixabay [Called to Win] --- Send in a voice message: https://podcasters.spotify.com/pod/show/darryl-bodkin/message

Angie Kim joins Carol Fitzgerald to talk about her new novel, HAPPINESS FALLS, which packs so much between its pages. It's a family story with a mystery woven through. And much of the book revolves around the young son, Eugene, who has Angelman syndrome --- and what he may know about the disappearance of their father/husband. Angie talks about how long this story was in her head --- more than a decade --- and why she felt that this was the right time to tell it. She notes that she aimed to look at the impact of someone who is verbally disabled on the entire family. And she wanted to address how those who are different may be in jeopardy when being looked at by law enforcement as they would not be attuned to things like Eugene's jumping to calm himself or the verbal noises he makes. These cues could keep someone who is disabled from protecting themselves. She also discusses her creative writing work with students who have issues with oral communication and shares how the person who performs Eugene's part for the audiobook was hand-selected by her from among this group. Book discussed in this episode:  HAPPINESS FALLS by Angie Kim https://www.bookreporter.com/reviews/happiness-falls Latest “Bookreporter Talks To” Interviews: Melanie Benjamin: https://youtu.be/Vl-uEWGAnn4 Shari Lapena: https://youtu.be/zCT_Z1nJPT0 Tracey Lange: https://youtu.be/NvMLQsooDvQ Naomi Hirahara: https://youtu.be/pwvkwqt2No Liz Nugent: https://youtu.be/pH2HEvvyiAo Alli Frank and Asha Youmans: https://youtu.be/d02mLanJV8g Carolyn Mackler: https://youtu.be/L4M-w9BeaTk Adrienne Brodeur: https://youtu.be/6U7kf2KVtco Lisa See: https://youtu.be/D8XYEYI60Ww Nancy Horan: https://youtu.be/49bdiHbIUmY Linwood Barclay: https://youtu.be/pkDG90y9FN0 Alice Elliott Dark: https://youtu.be/9AAk-lLDRbc Check out our past “Bookaccino Live” Book Group events: Nita Prose: https://youtu.be/f_Ev0KN8z2M Chamaine Wilkerson: https://youtu.be/0DluxmfXGoI  Marie Benedict and Victoria Christopher Murray: https://youtu.be/rYelwWiTJbE Janet Skeslien Charles: https://youtu.be/47Sx9DtcAkA Miranda Cowley Heller: https://youtu.be/gVlKvApDO8M Sign up for newsletters from Bookreporter and Reading Group Guides here: https://tbrnetwork.com/newsletters/ FOLLOW US on Facebook: https://www.facebook.com/bookreporter Website: https://www.bookreporter.com Art Credit: Tom Fitzgerald Edited by Jordan Redd Productions

Let's define happiness! Angie Kim, the author of Happiness Falls, joins us live from the BOTM office to talk about her new novel, the meaning of happiness, and how BOTM members broke her Instagram. Mia is hyper analytical and has an explanation for everything, so when her father and younger brother Eugene don't return from a walk in a nearby park, she is not concerned. But when Mia's brother runs through the front door bloody and alone, it becomes clear that the father is missing and the only witness is Eugene, who has Angelman syndrome and cannot speak. Full of twists and questions of love, language, and human connection, Happiness Falls is a novel of profound philosophical inquiry. Get Happiness Falls at bookofthemonth.com. New members get their first book for just $9.99 with code VBT at checkout.  Learn more about Virtual Book Tour at virtualbooktour.com.  

Jim and Jessamyn are live from the Virginia Mason Athletic Center ahead of the Seahawks training camp. The duo reacts to the news about the Colorado Buffaloes leaving the PAC12 next year. Hugh Millen quickly visits to chat about the Seahawks ahead of day three of training camp, plus his reaction to the Colorado Buffaloes leaving the PAC-12. Nancy Henderson, wife of former MLB Dave Henderson to talk about the Angelman Foundation.

We break down the new cast of The Challenge USA 2 with Drew Angelman (Angelcake Entertainment on Youtube)-Paulie's return and being on a team with Bananas and Josh!?!-Cory is back after a short break-Amanda and Wes leading what we feel is the strongest team!-The lack of love for the Amazing Racers-And so much more!Instagram: @challenge_fanatics_podcastTwitter: @ChallengeFanPodLook at Drew's latest video on his YouTube breaking down the trailer shot for shot:https://www.youtube.com/watch?v=-jibVEqYwNMThis show is part of the Spreaker Prime Network, if you are interested in advertising on this podcast, contact us at https://www.spreaker.com/show/4574073/advertisement

Drew Angelman stops by the Microdose to talk with Kush about his expectations for the Third Quarter of 2023.Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on Twitter @Kush_HayesMovie reviews at: www.TheBosNet.Family/reviewsSubscribe to the Microdose on:StitcheriTunes & Apple PodcastsSpotify© 2023 TheBosNet Family All Rights Reserved

Reality TV conversations the challenge 39 with Drew

The effects of Angelman Syndrome (AS) on young children are debilitating. From an early age, they face an uphill battle with this neurogenetic disease's unrelenting symptoms, including seizures, cognitive impairments, and loss of motor function. It can also be tough on caretakers – just ask Dr. Allyson Berent and Jennifer Panagoulias. They both have personal connections to this disease, which in Dr. Berent's case led to her creating the Foundation for Angelman Syndrome Therapeutics (FAST) in 2008. Today, Panagoulias, whose niece has AS, serves as their head of Regulatory and Policy, tasked with the responsibility to find a path that will develop treatments to improve the quality of life for both patients and caregivers.  Join Jennifer as we discuss the origins of FAST, the science behind Angelman Syndrome, the crucial role outside partnerships have played in research, and what's in the pipeline for potential therapeutics.Show Notes  Foundation for Angelman Syndrome Therapeutics  ASOs Rescue Brain Rhythms, Sleep Patterns in Angelman Mouse Model  A Big Year for Angelman Syndrome  Antisense Therapies and Angelman's Syndrome  Unsilencing Quincy  The Quest to Cure Quincy  Development of Potential Outcome Measures for AS Clinical Trials – Angelman Syndrome Foundation   

Drew Angelman stops by the Microdose to talk with Kush about his expectations for the Second Quarter of 2023. Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on Twitter @Kush_HayesMovie reviews at: www.TheBosNet.Family/reviewsSubscribe to the Microdose on:StitcheriTunes & Apple PodcastsSpotify© 2023 TheBosNet Family All Rights Reserved

As promised, Drew Angelman and Kush Hayes have gone through the list of Best Picture nominations for 2023. What do the guys think of this years nominations and do they get their predictions correct?Music by IAmSoLocoFind more from IAmSoLocoon Twitteron Facebookon SpotifyFollow Drew on Twitter @DrewAngelmanMore Drew at: Angelcake EntertainmentFollow Kush on Twitter @Kush_HayesSubscribe to the Microdose on:StitcheriTunes & Apple PodcastsSpotify© 2023 TheBosNet Family All Rights Reserved

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

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

Here are just a few athletic accomplishments from today's guest Deanna McCurdy: Six national championships, Four Pan-Am championships, 5th overall at ITU Cross Worlds, she's finished as the top American female and 4th overall twice at the XTERRA World Championships. USA Triathlon awarded her Off-road Triathlete of the Year honors in 2017, 2018, and 2021.  In 2019, she competed as a Pro (at age 45), placing 2nd at XTERRA Quebec and winning XTERRA Fruita. WHEW...Even if you don't know what any of those races are, you certainly recognize a powerhouse when you see and hear those results. BUT, what makes Deanna's success story so incredible is that she didn't start doing triathlons until 2009 after she had her second daughter. Yes, Deanna is also currently raising two teenage daughters (which is an “I Could Never Do That” unto itself) — one of which was diagnosed with Angelman's Syndrome at just 16 months. Life can change in an instant. Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide. Symptoms include, but are not limited to: delayed developmental milestones; gross and fine motor impairment; difficulty with feeding and swallowing; issues; loss of functional speech and epilepsy. As you'll hear today, her daughter Hayden is one of the main reasons she races and trains —all in an effort to raise awareness and funds for a cure for this rare disorder. In fact, her most recent endeavor was truly epic — It was the Breck Epic, a six-day mountain bike race in the Breckenridge mountains. She and her partner crushed the race, but her fundraising goals continue and today, we talk about her athletic journey, and also the joy, difficulty, reality, and gift of raising a child with Angelman's Syndrome. She speaks beautifully and candidly about this privilege of giving her baby angel the wings to fly.  Episode Resources: Deanna's "Epic Climb for an Epic Cure" Fundraising Page - https://cureangelman.org/deanna-mccurdys-epic-climb-for-an-epic-cure  To learn more about FAST Athletes, their mission and inspiring stories, check out our FAST Athletes page - https://cureangelman.org/fast-athletes  Deanna's Team USA Blog Support the Podcast through BuyMeACoffee.com -  "I Could Never Do That" Website - https://www.podpage.com/icouldneverdothat/  "I Could Never Do That" Instagram - @icouldneverdothat https://www.buymeacoffee.com/CarrieBarrett  Theme Music: Your Love by Atch -License: Creative Commons License - Attribution 3.0 Unported (CC BY 3.0)    

E313 Sara Schiller is co-founder of Sloomoo Institute, an interactive playground of slime “celebrating joy through sensory play.”  She's the co-founder of Wooster Collective, a website that showcases and celebrates ephemeral art from around the world. She's a mom of two daughters (one has Angelman's Syndrome), and in 2015 her husband, Marc, suffered two near-deadly […]

Jessica Rolph is joined by Dr. Kate Barret and Dr. Terry Jo Bichell to bring listeners the story behind “Uncle Rob's Pizza Party,” a Lovevery book about a toddler's relationship with a man with Angelman Syndrome.   Lovevery's Senior Advisor of Equity and Inclusion, Nicole Stamp, guides the conversation. This episode challenges some of the norms around how we discuss neurodiversity, particularly with our children.   Key Takeaways: [2:15] Jessica explains why Uncle Rob's Pizza Party has a special place in her heart. [3:05] Jessica and Kate share how this book came to fruition. [5:36] The sisters look back at their childhood growing up together with Rob and share interactions with other children around Rob's condition, and why a book like this would have been helpful. [7:13] Jessica and Kate talk about the process of actually creating the book. [9:19] Jessica talks about the photoshoot for the book, which became her favorite day ever at work.  [10:47] Terry Jo shares her experience with Angelman syndrome. [12:03] Terry Jo talks about the relationship between her son Lou, diagnosed with Angelman, and his nephew, Elio. [15:52] Terry Jo shares what is important for a family to know If a child is showing any traits that could be markers of Angelman syndrome or any other cognitive diagnoses. [17:51] Kate, from her background in occupational therapy, shares her advice for families who think that maybe their child is exhibiting behaviors that might be associated with some kind of diagnosis.   Mentioned in this episode: Brought to you by Lovevery.com Angelman.org Cure Angelman Combined Brain Receive weekly emails about your child's development, and stay in the know about new play essentials, promos, and more by signing up at Lovevery.com Follow Lovevery and Jessica Rolph on Instagram.