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The GRIN2B Foundation

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Wisdom Shared with Carole BlueweissWisdom Shared with Carole BlueweissA Sister Shines a Light on Special NeedsEpisode SummaryIn this heartfelt episode, I’m joined by Kylainah Zacharcuk, author of You Can Find Me in Her Shadow: My Sister Has Special Needs and This is My Story. Kylainah opens up about the unique and often complex experience of growing up as the sibling of someone with special needs. We talk about her book, which gives voice to the often-overlooked sibling perspective, and explore the emotional layers that come with love, responsibility, and identity. Kylainah also shares candidly about her own mental health journey. We hear how treatment modalities like Anat Baniel Method NeuroMovement® hel...2025-07-0642 minPatient Stories with Grey GeneticsPatient Stories with Grey GeneticsGRIN2B: An Odyssey from Diagnosis to EvacuationNadia Billous is a mother of two young sons, including 9-year-old Andryusha who was diagnosed with GRIN2B-related neurodevelopmental disorder. Nadia and her family are Ukrainian and lived in Kyiv at the time of Andryusha’s birth. At first, he was a typical, healthy baby but began to have some alarming symptoms around 3 months of age which led to a 7 year odyssey to identify this rare diagnosis. Andryusha was receiving therapies and interventions to help him gain strength and prove his quality of life which were abruptly impacted by the war in Ukraine. In this episode, Nadia talks about he...2024-05-2829 minThis BitchThis BitchThe Cult of Kimmy and ShenkSHOP MERCHhttps://thisbitch.bigcartel.com/Follow Kimberly Congdon on Instagram for show dateshttps://www.instagram.com/kimcongdon/https://www.patreon.com/kimcongdonhttps://linktr.ee/KimcongdonFollow Sara Weinshenk on Instagram for show dateshttps://www.instagram.com/princessshenk/https://www.patreon.com/saraweinshenkhttps://linktr.ee/saraweinshenkEdit by Xavier Campos @ImXavierCampos https://www.instagram.com/imxaviercam...THIS...2023-12-1856 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare: The GRIN2B Podcast Episode 8 - Defining and Combating AbleismThe goal of this episode is to define ableism, name it in its various forms and reflect upon the times when we have all perpetuated ableism both in society at large and within the rare disease space. I promise my listeners that this episode will be very informative and probably uncomfortable at times to hear. But I encourage you all to lean into your discomfort with the knowledge that you will come out on the other side better for having experienced it and better able to be active allies for your disabled loved ones. As part of this episode...2023-07-221h 04DNA Today: A Genetics PodcastDNA Today: A Genetics Podcast#196 Mitochondrial Disorders with Devin Shuman and Lissa PoincenotThis week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON). Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1. Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA. Her pr...2022-08-0542 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare - The GRIN2B Podcast Episode 7 - Looking Forward to 2022 with Liz Marfia-AshCelebrating Rare - The GRIN2B Podcast closes out 2021 by welcoming GRIN2B Foundation President and founder Liz Marfia-Ash. Liz reflects on the year that was while also previewing three exciting initiatives GRIN2B Foundation is taking on in 2022, including a potential clinical trial for patients with gain of function GRIN2B variants, the opening of the first GRI Center of Excellence in Denver, Colorado and previewing our first in-person family weekend since 2018.PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts...2022-01-0457 minGiantsGiantsScience News-2nd Fortnight of May 2021In this episode, we will talk about a treatment to prevent covid-19 vaccine-induced blood-clotting, the mechanism of sense of smell loss in covid-19 patients, the effect of plastics on IQ, a new blood glucose monitoring system that uses sweat instead of blood and how the body differentiates between good bacteria in the gut from the bad ones. ----------------------------------------------------------- The papers reviewed in this podcast: 1- Johannes Thaler, Cihan Ay, Karoline V. Gleixner, Alexander W. Hauswirth, Filippo Cacioppo, Jürgen Grafeneder, Peter Quehenberger, Ingrid Pabinger, Paul Knöbl. Successful treatment of vaccine‐induced prothrombotic immu...2021-05-3005 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare - GRIN2B Podcast - Episode 6 - Understanding Genetic ReportsHello! In this episode of Celebrating Rare, host Phil Ash helps newly diagnosed parents of children with GRIN2B-Related Neurodevelopmental Disorder understand the basics of genetics. This will help parents interpret their child's genetic report in order to create a plan forward both medically and holistically. PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not...2021-05-0428 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare - GRIN2B Podcast Episode 5 - Interview with Dr. Samuel KwonHello! In this episode of Celebrating Rare, host Phil Ash interviews GRIN2B Foundation Science Director Dr. Samuel Kown about his in-depth research into and personal connection with GRIN2B-Related Neurodevelopmental Disorder. PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire...2020-03-2550 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare - GRIN2B Podcast Episode 4 - Interview with Dr. Caitlin HudacHello! In this episode of Celebrating Rare, host Phil Ash interviews GRIN2B Foundation Grant Recipient Dr. Caitlin Hudac about her exciting, upcoming work with GRIN2B-Related Neurodevelopmental Disorder.PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire disclaimer...2020-01-1444 minDad to Dad  PodcastDad to Dad PodcastDad to Dad 80 - Steve Mogul, Father of Two Daughters, Both with Very Rare Genetic DisordersOn this Special Fathers Network Dad to Dad podcast, host David Hirsch speaks with special father Steve Mogul, a financial advisor with UBS Financial Services and a father of two children who both have very rare developmental disorders. Hayley, is only one of 19 in the world who has a rare form of Smith–Magenis Syndrome. Bari, is one of only 19 in the world who have a mutated GRIN2B gene. It’s a very unique situation and Steve spells out the challenges that his family faces. He also offers other parents of kids with special needs some truly insightful advice. That...2020-01-101h 14The GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare - GRIN2B Podcast Episode 3 Part 2The second part of episode 3 continues our discussion with GRIN2B parents Brittaney and Mike Crider as they discuss how they discovered and created their new normal of living a life with their daughter Natalie and her GRIN2B variation.PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any...2019-03-3019 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare: The GRIN2B Podcast Episode 3, Part 1: Brittaney and Mike's Journey with Natalie and her GRIN2B DiagnosisIn part 1 of episode 3, Celebrating Rare is joined by parents Brittaney and Mike. They discuss their daughter Natalie's journey with GRIN2B and reflect on how living with a rare genetic disorder has changed them as parents and as people.PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any...2019-03-2635 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare: The GRIN2B Podcast Episode 2: Family Conference ReflectionsIn this episode of Celebrating Rare, the GRIN2B Podcast, host Phil Ash shares his personal reflections on the GRIN2B Foundation Family Conference, which took place on September 22, 2018 in Atlanta Georgia.PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire...2018-10-1326 minThe GRIN2B Foundation\'s PodcastThe GRIN2B Foundation's PodcastCelebrating Rare: The GRIN2B Podcast Episode 1In its inaugural episode, Celebrating Rare discusses the goals of the GRIN2B podcast and defines the rare genetic disorder that is GRIN2B. Host Phil Ash then discusses his daughter, Lucy and his family's journey to receiving her diagnosis. Finally, Phil discusses several treatment options for persons with GRIN2B.PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2...2018-03-3041 minMedizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 13/19Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 13/19Das GRIN2B-Gen und seine Bedeutung für die Schizophrenie2011-11-1000 min