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Friday, November 15, 2024   SRF NEWS Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/ Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker! Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/ Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe   4MTx Announcement and direct impact on pipeline https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebr https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2   RESEARCH UPDATE There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Frazier! https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112 Sign up for Frazier https://syngap.fund/eye2  https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/   More Grants at work Science: Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/ New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEsp Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO Thank you Corey Baysden for getting the Studies so well organized!  https://curesyngap1.org/resources/studies/   Conference - Conference is 18 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner   FUNDRAISING Coast2Coast Challenge $120,642 Syngap.Fund/C2C  Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted FUNDRAISE https://syngap.fund/FR  CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/   VOLUNTEER SPOTLIGHT:Amber Mickler  https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK    ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing    VOLUNTEER  https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS  - 1,220 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,847 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 154 of #Syngap10  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

In this discussion which goes beyond the basics of "just take your prenatal vitamins", Dr. Mitzi Krockover welcomes two insightful experts in pregnancy nutrition: Meredith McAllister, CEO and co-founder of Marma, an app designed to guide women through the complexities of pregnancy nutrition, and Dr. Basma Faris, a board-certified OB/GYN and culinary medicine specialist who leads Marma's medical advisory team. Together, they discuss common challenges like managing morning sickness, handling food aversions, understanding cravings, and postpartum nutrition needs, while also discussing the innovative field of culinary medicine. Whether you're expecting, planning, or supporting a loved one, this episode provides practical insights and solutions for navigating nutrition throughout pregnancy and postpartum. Please visit Beyond the Paper Gown to join our community and to learn more about achieving your optimal health. SHOW NOTES: Meredith McAllister, Founder and CEO, Marma Basma Faris, MD, OBGYN and Certified Culinary Medicine Specialist Mitzi Krockover, Founder and CEO, Woman Centered, LLC and Host of Beyond the Paper Gown Marma Health CulinaryMedicine.org

Hope and Progress in Type 1 Diabetes Management In honor of World Diabetes Day earlier this week, this podcast episode celebrates the strength of our T1D Moonshot Community and explores innovative solutions for better insulin delivery management. This episode features inspiring conversations with: Ole Kjerkegaard Nielsen, PhD, CEO & Co-founder of GO-Pen: Making insulin pens more affordable and accessible Bill Ervin, CEO & Founder of Bulsai: Revolutionizing injection techniques for optimized results Discover how these groundbreaking ventures are: Empowering patients with better tools and technology Addressing key frustrations in current diabetes management Plus, learn about StartUp Health's Health Moonshot Communities, like the T1D Moonshot Community, and how they connect founders tackling the biggest health challenges, such as Type 1 diabetes. This episode is a must-listen for anyone impacted by Type 1 diabetes, healthcare professionals, and innovators passionate about improving patient lives. Listen now and join the movement for a brighter future! Are you ready to tell your story? Members of our Health Moonshot Communities are leading startups with breakthrough technology-driven solutions for the world’s biggest health challenges. Exposure in StartUp Health Media to our global audience of investors and partners – including our podcast, newsletters, magazine, and YouTube channel – is a benefit of StartUp Health’s PRO Membership. To schedule a call and see if you qualify to join and increase brand awareness through our multi-media storytelling efforts, submit our three-minute application. If you’re mission-driven, collaborative, and ready to contribute as much as you gain, you might be the perfect fit. Learn more and apply today. Want more content like this? Sign up for StartUp Health Insider™ to get funding insights, news, and special updates delivered to your inbox.

Healthfirst, myPlace Health and Wellsky share their successful strategies for reducing readmissions, improving health outcomes and reducing costs through post-acute and home care.   Topics covered include: Building your provider partnerships beyond the traditional transition of care program Reducing readmissions among higher-risk Medicare Advantage members?  Ensuring members receive high-quality home health care after being discharged from skilled nursing facilities, and what made this approach stand out in terms of impact Susan J. Beane, MD FACP, Executive Medical Director, Health System Transformation, Healthfirst Robert Schreiber, MD, Vice President & National Medical Director, myPlace Health Andy Eilert, President, Payer & Emerging Markets, WellSky Bios: https://www.brightspotsinhealthcare.com/events/how-to-create-more-bright-spots-in-post-acute-and-home-care/   This episode is sponsored by Wellsky WellSky is one of America’s largest and most innovative healthcare technology companies leading the movement for intelligent, coordinated care. Our proven software, analytics, and services power better outcomes and lower costs for stakeholders across the health and community care continuum. In today’s value-based care environment, WellSky helps providers, payers, health systems, and community organizations scale processes, improve collaboration for growth, harness the power of data analytics, and achieve better outcomes by further connecting clinical and social care. WellSky serves more than 20,000 client sites — including the largest hospital systems, blood banks, cell therapy labs, home health and hospice franchises, post-acute providers, government agencies, and human services organizations. Informed by more than 40 years of providing software and expertise, WellSky anticipates clients’ needs and innovates relentlessly to build healthy, thriving communities.

Editor’s Summary by Linda Brubaker, MD, and Preeti Malani, MD, MSJ, Deputy Editors of JAMA, the Journal of the American Medical Association, for articles published from November 9-15, 2024.

Indigenous nurses bring more than clinical expertise to their practice—they bring a legacy of resilience, cultural knowledge, and a commitment to holistic care that honors their ancestors, culture, and history. For Native and Indigenous nurses, advancing practice means blending tradition and cultural humility with innovation to meet the unique needs of their communities, build trust, and transform health outcomes.   In this episode, we learn from Chippewa Indian Nurse researcher and educator Misty Wilkie PhD, RN, FAAN an Indigenous nurse director of the Doctoral Education Pathway for American Indian/Alaska Native Nurses at the University of Minnesota School of Nursing, to explore how the Center for Indigenous People, Health & Nursing is devoted to improving the health and well-being of Indigenous people and communities works toward reconciliation. Aiming to eliminate health disparities by building trusting relationships with Tribal Nations, developing evidence-based practices, and preparing doctorally trained Indigenous healthcare leaders, Misty Wilkie emphasizes the power of honoring tradition, language, and strengths to shape more inclusive, equitable healthcare systems.   Find this episode’s resources at www.seeyounowpodcast.com and more information on the podcast bundles visit ANA’s Innovation Website at www.nursingworld.org/innovation. Have questions for the SEE YOU NOW team? Feedback? Future episode ideas? Contact us at [email protected].  

On episode 495 of The Nurse Keith Show nursing and healthcare career podcast, Keith interviews Michael Dexter, MSN, RN, EMT, CEN, CPEN, CFRN, CTRN, TCRN, CCRN, CNL, the Director of Professional Development at the Board of Certification for Emergency Nursing (BCEN). In the course of their conversation, Keith and Michael discuss how emergency nurses can lean into their specialty, sharpen their skills and knowledge, and maximize their impact on patients and the quality of care delivered in emergency departments around the country. They also discuss BCEN's overarching mission of promoting education and growth within emergency nursing, and the six certifications overseen and administered by this crucial specialty nursing organization. Michael Dexter holds a master's degree as a clinical nurse leader and 7 board certifications. He is passionate about professional growth, continuous learning, and collaborative care practices. Having worked emergency, transport, and cardiac care areas, Michael uses his experiences to tie clinical conditions together across the entire emergency care spectrum. Connect with Michael Dexter and BCEN: BCEN website Facebook BCEN on LinkedIn Instagram YouTube Michael Dexter on LinkedIn Contact Nurse Keith about holistic career coaching to elevate your nursing and healthcare career at NurseKeith.com. Keith also offers services as a motivational and keynote speaker and freelance nurse writer. You can always find Keith on LinkedIn. Are you looking for a novel way to empower your career and move forward in life? Keith's wife, Shada McKenzie, is a gifted astrologer and reader of the tarot who combines ancient and modern techniques to provide valuable insights into your motivations, aspirations, and life trajectory, and she offers listeners of The Nurse Keith Show a 10% discount on their first consultation. Contact Shada at TheCircelandtheDot.com or [email protected].

Send us a textWith the election decided and over, Americans are looking at Republicans to make good on their campaign promises.One important promise to voters was to make America healthy again.But what does this agenda entail?And what impacts can we expect to see in healthcare?In this episode of CareTalk, David E. Williams and John Driscoll discuss the framework of Make America Healthy Again, covering what they have right, what they have wrong, and how it is set to change healthcare.This episode is brought to you by BetterHelp. Give online therapy a try at https://betterhelp.com/caretalk and get on your way to being your best self.As a BetterHelp affiliate, we may receive compensation from BetterHelp if you purchase products or services through the links provided.TOPICS(0:32) Sponsorship(1:59) Positives of Make America Healthy Again(3:31) Examining Chronic Disease Rates(4:54) Framework of Chronic Diseases(5:56) Health Policies on Pollution(7:02) The Gun Safety Epidemic(8:08) Government Regulations and Health Track Record(9:16) Contradictions in Make America Healthy Again(12:04) Hope for Change in American Healthcare🎙️⚕️ABOUT CARETALKCareTalk is a weekly podcast that provides an incisive, no B.S. view of the US healthcare industry. Join co-hosts John Driscoll (President U.S. Healthcare and EVP, Walgreens Boots Alliance) and David Williams (President, Health Business Group) as they debate the latest in US healthcare news, business and policy. GET IN TOUCHBecome a CareTalk sponsorGuest appearance requestsVisit us on the webSubscribe to the CareTalk NewsSupport the showCareTalk: Healthcare. Unfiltered. is produced by Grippi Media.

Sara Jimenez es mamá de Diego de 3 años. Ellos son la primera familia de Guatemala diagnosticada con SYNGAP1, y sin duda tienen una historia inspiradora que nos invita a no darnos por vencidos para encontrar un diagnóstico, dar lo mejor de nosotros como familias por el bienestar de nuestros hijos y sacar de la adversidad lo positivo y seguir adelante. Bio de ⁠⁠⁠⁠⁠⁠⁠⁠Merlina⁠⁠⁠⁠⁠⁠⁠⁠ Información sobre SRF & SYNGAP1: ⁠⁠⁠⁠⁠⁠⁠⁠Syngap Research Fund⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠ Donaciones: ⁠⁠⁠⁠⁠⁠⁠⁠https://syngap.fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠⁠⁠⁠⁠⁠⁠ Comentarios: ⁠⁠⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠⁠⁠ Conéctate con SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con Mike Episodio 22 Café SYNGAP1, Noviembre 14, 2024 #CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Diego #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

Laurie McGraw is speaking with the Inspiring Women pioneers of public radio Breeze Richardson and Marty Durlin. These special interviews were aired on KGNU’s It’s the Economy and highlight the importance of public radio. Both Marty and Breeze provide their reasons for coming into public radio – the true town square, the opportunity for storytelling […]

In this episode of Talking HealthTech, host Ruby Hartley speaks with Sarah Weller from Movember, Professor Bogda Koczwara from Flinders Centre for Innovation in Cancer, and Cindy Toms from Cancer Australia about the importance of integrating patient feedback into cancer care through advanced health technology. They discuss the challenges and opportunities presented by the Pan Cancer initiative, focusing on data standardisation, interoperability, and the role of patient-reported outcomes in enhancing cancer treatment.Key Takeaways:Effective cancer treatment needs technology capable of managing longitudinal data across various healthcare providers and systems over extended periods.The interoperability of patient-reported outcomes is key to comparing care quality among different health settings and improving targeted care delivery.The Pan Cancer initiative aims to standardise and unify data collection nationwide, addressing differences in jurisdictional technologies and infrastructures.Future healthcare scenarios envision real-time feedback on patient outcomes, providing immediate care adjustments for better management.National benchmarking could help identify high-risk populations, guiding targeted training and better medication accessibility.The initiative by Movember aims to standardise patient-reported outcomes across cancer types in Australia, facilitating improved healthcare systems and decision-making processes.Check out the episode and full show notes on the Talking HealthTech website.Loving the show? Leave us a review, and share it with someone who might get some value from it.Keen to take your healthtech to the next level? Become a THT+ Member for access to our online community forum, meet-ups, special offers, and more exclusive content. For more information, visit talkinghealthtech.com/thtplus.

Episode Highlights: Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability community. She delves into practical tips for navigating travel with a wheelchair-using child, explains the importance of universal design, and discusses how sharing your story can be a catalyst for change. Mindy also talks about her book, The Truth About Things That Suck, and the role of mindset in overcoming adversity. Packed with inspiration and actionable advice, this episode is a must-listen for anyone looking to make the world more accessible, one step—or one flight—at a time. Links: Connect with Mindy Henderson on LinkedIn: LinkedIn Profile Learn more about MDA Quest: mdaquest.org Mindy's book - The Truth About Things That Suck: Amazon Link Tammy Duckworth - Every Day is a Gift: Amazon Link Get Involved and Take Action: Share your story on social media to raise awareness. Join disability advocacy groups to support accessible travel policies. Tune in and join us in supporting accessible, inclusive travel! Airplane Travel Tips from a One Million Mile Traveler The recent passage of the FAA Reauthorization Act

Host: Darryl S. Chutka, M.D. [@chutkaMD] Guest: Alina M. Allen, M.D., M.S. Fat deposits in the liver are quite common and many individuals have no idea they have the condition. A minority of those individuals will develop an associated hepatic inflammation. It’s not entirely clear why some progress to this state, although there are some known risk factors. Steatohepatitis is a potentially serious health problem and can lead to end-stage liver disease. It’s also associated with cardiovascular disease and all of its complications. The topic for today’s podcast is Hepatic Inflammation and Metabolic Dysfunction-Associated Steatohepatitis. My guest is Alina M. Allen, M.D., M.S., from the Division of Gastroenterology and Hepatology at the Mayo Clinic. What are the risk factors for this health problem? Should we be screening patients for its presence and how should it be managed. These are just some of the topics we’ll discuss in this podcast. These talks on Inflammation and Cardiometabolic Disease are sponsored by Novo Nordisk Learn more about this series HERE Connect with the Mayo Clinic’s School of Continuous Professional Development online at https://ce.mayo.edu/ or on Twitter @MayoMedEd. 

Compelling research, discussions, opinions and more—enjoy these original podcasts from the AMA for the latest in medicine and patient care. AMA Update AMA Update The AMA Update podcast covers a range of health care topics affecting the lives of physicians and patients. Hear from physicians and experts on COVID-19, monkeypox, advocacy issues, scope of practice and more. Because who’s doing the talking matters. Apple Podcasts | Spotify | Simplecast | AMA Update videos | Audio transcripts AMA Moving Medicine AMA Moving Medicine From emerging issues to new innovations, the AMA Moving Medicine podcast brings you the physicians, scientists and all the leading voices making a difference in health care today. Subscribe now on your favorite podcast platform. Apple Podcasts | Spotify | Simplecast | Stitcher | Moving Medicine videos | Audio transcripts |  Making the Rounds Making the Rounds This podcast features advice, interviews and discussions on the most important topics affecting medical students’ lives and careers. Subscribe now on your favorite podcast platform. Apple Podcasts | Spotify | Simplecast | Stitcher | Audio transcripts AMA Thriving in Private Practice AMA Thriving in Private Practice Private practices have been under intense pressure for years; the COVID-19 pandemic has only exacerbated the financial strain and highlighted the burdens faced by physician practice owners each day. As a private practice physician, you know you need skills they didn’t teach you in med school to make your practice thrive. The AMA’s Thriving in Private Practice podcast, launching this summer, highlights the experience of private practice physicians who know your pain points—like workflow snags and payor audits—and can help you navigate these issues and more. Don't miss an episode—subscribe on your favorite podcast platform today. Apple Podcasts | Simplecast | Audio transcripts AMA Prioritizing Equity AMA Prioritizing Equity AMA Prioritizing Equity podcast illuminates how determinants of health uniquely impact marginalized communities, public health and health equity, with an eye on both short-term and long-term implications. Subscribe on your favorite podcast platform. Apple Podcasts | Amazon Music | Spotify AMA STEPS Forward® podcast series AMA STEPS Forward® podcast series Hear health care leaders share how they overcame practice challenges by implementing real-world solutions that helped put the joy back into the practice of medicine. Apple Podcasts | Spotify | AMA Ed Hub™ | Audio transcripts JAMA Network™ podcasts JAMA Network™ podcasts Catch up on the research, opinion and educational content from across the JAMA Network™, including the JAMA Editors' Summary, Author Interviews and the popular JAMA Clinical Reviews series. JAMA Podcasts Ethics Talk podcasts Ethics Talk podcasts Ethics Talk podcasts explore the ethical and professional challenges that medical students and physicians regularly confront during their education and practice careers. Journal of Ethics | PodBean | AMA Ed Hub™ Stories of Care: A CDC Project Firstline podcast from the AMA Stories of Care: A CDC Project Firstline podcast from the AMA Through the voices of health care experts and front-line personnel, this podcast explores the intersection of infection control and equity and examines how access plays a key role. AMA Ed Hub | Apple Podcasts | Spotify Opioid Overdose Epidemic podcast series Opioid Overdose Epidemic podcast series Expert discussions and insights to help physicians and other health professionals address the epidemic of opioid overdoses. Learn about treatment options for pain management, best practices in opioid prescribing, standards of care and medications for opioid use disorder, harm reduction and overdose prevention strategies. AMA Ed Hub