CURE SYNGAP1 Podcasts

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Canal • 3 programas

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Sin fines de lucro

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29 ENE

Episodio 34: Vanina, Mamá de Suri Con la Enfermedad Cask

Vanina es mamá de Suri de 6 años quien fue diagnosticada con (Cask), una enfermedad poco frecuente. Nos trae su historia valiente llena de amor, paciencia y fortaleza. 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: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠paulina@curesyngap1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Conéctate con SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con Mike Episodio 34 Café SYNGAP1, Enero 26, 2026 #CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1 #Cask #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP

29 ene

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39 min
20/10/2023

Episodio 03: Marcos y Su Hijo Lucas Desde Alemania

Marcos nos acompaña desde Alemania- son una familia de cuatro y él nos habla sobre su hijo Lucas que tiene Syngap1. Nuestra anfitriona Merlina y nuestro invitado especial Marcos hablan sobre como el Syngap1 tocó a la puerta después de tanto buscar qué era lo que sucedía con Lucas, así como también la labor y compromiso con los científicos en la búsqueda de una cura o mejor calidad de vida. Bio de ⁠⁠⁠⁠⁠Merlina Información sobre Cure SYNGAP1 & SYNGAP1: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠CURE SYNGAP1⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Donaciones:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://curesyngap1.org/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: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠paulina@curesyngap1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Conéctate con CURE SYNGAP1 (@curesyngap1): Facebook⁠⁠⁠⁠ ⁠⁠⁠⁠Twitter⁠⁠⁠⁠ ⁠⁠⁠⁠Instagram⁠⁠⁠⁠ ⁠LinkedIn⁠⁠⁠⁠ ⁠⁠⁠⁠TikTok⁠⁠⁠⁠ ⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal con Mike Conferencia SYNGAP1 2023, organizado por SRF - ⁠⁠⁠Reservaciones de Hotel⁠⁠⁠ Comentarios: paulina@curesyngap1.org Episodio 03 Café SYNGAP1, Octubre 5, 2023 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Lucas #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

20/10/2023

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24 min
11/07/2025

Episodio 30: Conociendo Enfermedades Raras- Italy y Sus Hijas con AME

En este episodio de Café Syngap1, Merlina le da la palabra a una mamá de la comunidad de enfermedades raras para contar su historia. Desde España nos acompaña Italy, ella nos presenta su historia y la de sus hijas quienes conviven con una enfermedad rara llamada AME (Atrofia Muscular Espinal). Ella nos habla sobre esa circunstancia tras recibir un diagnóstico desesperanzador y que la lleva a tomar decisiones firmes, cambiar de planes, con mucho amor para salvar a sus hijas. Bio de ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Merlina⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Información sobre Cure SYNGAP1 & SYNGAP1: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠CURE SYNGAP1⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Donaciones:⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://curesyngap1.org/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: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠paulina@curesyngap1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Conéctate con CURE SYNGAP1 (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con Mike Gracias por darle a nuestro podcast 5 estrellas! cureSYNGAP1.org/Rating Episodio 30 Café SYNGAP1, Julio 11, 2025 #CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #enfermedadesraras #RareDisease #AtrofiaMuscularEspinal #AME #SpinalMuscularAtrophy #SMA #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

11/07/2025

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59 min
06/06/2025

Episodio 28: Dina y Su Hija Maya Desde Nueva York

En el episodio de hoy nos acompaña Dina Figueroa desde Nueva York. Dina es mamá de Maya, quien tiene 3 años y fue diagnosticada con Syngap1 en el 2022. Dina nos recuerda que debemos ser constantes y mantener siempre la esperanza. Bio de ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Merlina⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Información sobre Cure SYNGAP1 & SYNGAP1: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠CURE SYNGAP1⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Donaciones:⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠https://curesyngap1.org/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: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠paulina@curesyngap1.org⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Conéctate con CURE SYNGAP1 (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ con Mike Episodio 28 Café SYNGAP1, Junio 6, 2025 #CafeSYNGAP1 #Syngap #SYNGAP1 #CureSYNGAP1 #CafeSYNGAP1Maya #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP

06/06/2025

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32 min
20/05/2024 · VIDEO

SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week: https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific. MDBR is 3 weeks away! https://Syngap.Fund/Unite $5k match https://x.com/phalliburton/status/1792288377049415835 It’s all about therapies. Precision Genetic and Repurposed. Conferences are where we engage professional communities around SYNGAP1 & SRF. - Last week I was at Milken Global. All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role. - ASGCT was last week and that means announcements… - Kathryn and I are off to BIO in June in San Diego. Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ Repurposed therapies are just as important. Cost effective. Globally available. They are here now. We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials. And to even suggest that is unethical if it suggests people should hold off on helping patients. How about we just diagnose more kids? Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials. Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction. I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx. I am hopeful that some researcher does an investigator led trial. But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action. Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating. Please share data with us if you are trying. We are collecting case studies for Update 3. Thank you to the team here. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,010 YouTube. https://www.youtube.com/@CureSYNGAP1 - 9,900 Twitter https://twitter.com/cureSYNGAP1 - 3,560 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

20/05/2024 · Video

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24 min
13/08/2021 · VIDEO

Webinars, Mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR

Episode 22 of #Syngap10 - August 13th, 2021 - Webinars -https://Syngap.fund/eduardo August 19 at 10 am PST -https://Syngap.fund/ana Sept 2 at 10 am PST - Mugs mugs mugs -https://twitter.com/AAledo/status/1426207246149636099 - Blog: Genetics article is a must read for new families - https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1 - Genetic Counselors - Tell me about your experience - What do they need to know? - Hug them - Ciitizen - Count 110 + 12, let's keep going, 28 spots left! - Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/ - Sign up https://ciitizen.com/syngap1 - Cure - Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease - See episode 19. Yes, we need to reach for this - We may not know what is coming, but we need to work for it - One Upon a Gene - 94 https://effieparks.com/podcast/episode-094-mike-and-nasha - 41 https://effieparks.com/podcast/episode-41-syngap-research-fund - Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k!

13/08/2021 · Video

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14 min
15/04/2023 · VIDEO

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101 What’s your neuro emergency plan? https://twitter.com/cureSYNGAP1/status/1646170843503034368 Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481 Thanks to Kevin for going to Gatlinburg - Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433 - ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097 Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Sibling day John https://youtu.be/J5oBo9zcRUE LGS https://www.youtube.com/watch?v=kR1nWSEZPfY Webinars McKEE 4/27 https://syngap.fund/mckee SMITH 5/11 https://syngap.fund/smith Ciitizen SYNGAP1 count is over 2101 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ Rare News Updates Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases SCN2A Clinical Trial Site and Video, which is very good! - https://www.youtube.com/watch?v=z9SqMSO405I - https://scn2aclinicaltrials.com/ Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8 #Sprint4Syngap - 14 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 #MDBRSRF - 56 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 229 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A - Education survey https://forms.gle/YZJZmJavMNKNEBg88 - Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer Info@SyngapResearchFund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 101 of #Syngap10 - April 15, 2023 #frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

15/04/2023 · Video

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21 min
05/03/2022 · VIDEO

Another week in 5th gear, buckle up

Post RDD - - Last day of Feb, b/c rarest day - What did we do? - Raised $25k! - Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824 - Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644 - Jansen and Kimberly were shared, and that is a win for all of us. - https://variantyx.com/2022/02/25/jansens-story/ - https://www.raredisease.org.uk/rduk-news/our-syngap1-story/ - Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic - Webinar madness! - Two down - https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice - https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org - Two to go - Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal - Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian - SEVEN (7) New families this week - Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743 - One not on FB, but reached out after finding us… via this podcast! Yeah. That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too! - Follow us everywhere with @cureSYNGAP1 - We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go. https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg - And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle Thank you to SAB and CAB - We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board - They are working hard looking at some of the seven grant proposal we received! It’s going to be a great investment in the future of our loved ones… Sprint4Syngap! - 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ What else? - ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project. - Great meeting with Overcome and partnering on Canadian grants. - One family, older, needed a neuro and we got them hooked up in a day. Love it. - One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 50 of #Syngap10 - March 5, 2022 #s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

05/03/2022 · Video

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20 min
01/11/2023 · VIDEO

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier We need endpoints and assessment tools. We can help make it happen with this study. Let’s get to 100 participants. #SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link Two papers already!! Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome https://pubmed.ncbi.nlm.nih.gov/37045800/ Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes https://pubmed.ncbi.nlm.nih.gov/37534867/ Raise funds for SYNGAP1 Research via SRF https://syngap.fund/give https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt Register for the Dinner & Conference! 29 Days until the Conference - Join us! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund #SyngapConf Conference Agenda! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view 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 122 of #Syngap10 - November 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

01/11/2023 · Video

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11 min
02/09/2023 · VIDEO

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01 - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw - Spotify https://spotify.link/MJZZVMoKGCb - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1 #FondoSYNGAP SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016 Soiree was AMAZING - Tweet https://twitter.com/curesyngap1/status/1696595956467183904 - Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20 CANNONBALL 3 is coming! October 4-6. Super Heroine: Dr. Danielle Andrade Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20 Proposals came in today, we need to raise money! Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate Share you time and blood too! Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! Info@SyngapResearchFund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

02/09/2023 · Video

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17 min

CURE SYNGAP1 is a 501(c)(3) public charity incorporated in 2018. The mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely family led, SRF is a leading funder of SynGAP research. CURE SYNGAP1's mantra is Collaboration, Transparency & Urgency.

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SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

Another week in 5th gear, buckle up

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

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