Shows
Café SYNGAP1Episodio 35: Jordan Bastoni y Su Hija Alegría, Diagnosticada con SLC6A1"Cuando ser padre cambia el mundo".Jordan Bastoni nos acompaña desde España, es papá de Alegría quien fue diagnosticada con SLC6A1. Su experiencia personal se ha transformado en acción. Lo ha impulsado a ser una voz que lleva conciencia, acompañando a otras familias e impulsado alianzas para dar visibilidad a esta enfermedad poco frecuente.Bio de MerlinaInformación sobre CURE SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoPlanificación Financiera Futura para las Personas con Discapacidades Comentar...
2026-03-1059 min
CURE SYNGAP1 PODCAST aka SYNGAP10We need to raise funds for the critical work of CURE SYNGAP1, join us with #Sprint4SYNGAP #S10e201Friday, March 6, 2026 - Week 10
WHAT DO WE NEED $ FOR?
I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants. All of this is what we need to fund.
SPRINT FOR SYNGAP1
Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money.
Get on the map! Text sprint26 to 71777
https://curesyngap1.org/calendar/sprint4syngap-2026/
INAUGURAL SF NIGHT OF IMPACT
Also to raise funds, please...
2026-03-0609 min
Café SYNGAP1Episodio 34: Vanina, Mamá de Suri Con la Enfermedad CaskVanina 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 MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):FacebookTwitterInstagramLinkedInTikTokSYNGAP10 Video Podcast Semanal
2026-01-2938 min
Café SYNGAP1Episodio 33: Nohora de la Fundación Dravet Latam, y Mamá de LucianaNohora es psicóloga de profesión y representante legal de la Fundación Dravet Latam. Su historia inspira: es una mamá incansable en la defensa de los derechos de su hija Luciana, quien tiene el síndrome de Dravet, y de las familias que conviven con una enfermedad rara. Su corazón y su fuerza han iluminado el camino de muchas familias.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanifica...
2025-12-0337 min
CURE SYNGAP1 PODCAST aka SYNGAP10F78.A1,the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185Wednesday, October 1st, 2025. Week 40.
SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht. Our code is F78.A1
Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/
Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg
Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
W...
2025-10-0109 min
CURE SYNGAP1 PODCAST aka SYNGAP10DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184Friday, September 26, 2025. Week 39.
In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.
DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)
Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and wil...
2025-09-2609 minCURE SYNGAP1 PODCAST aka SYNGAP10DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184Friday, September 26, 2025. Week 39.
DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)
Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org...
2025-09-2609 min
Café SYNGAP1Episodio 32: Verónica y Su Hija Martina Desde UruguayNuestra primera familia de Uruguay, Verónica comparte su historia cuyo amor no conoce límites. Se planta como una firme defensora de su hija Martina, buscando apoyo, servicio y oportunidades posibles para ayudarla avanzar en este camino.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):FacebookTwitterInstagram
2025-09-2648 min
CURE SYNGAP1 PODCAST aka SYNGAP10CURE SYNGAP1 joins biotech investors in CAMP4 Tx’s $100M Raise for ASO Program $CAMP #S10e182Wednesday, September 10, 2025. Week 37.
CAMP4 Press Release:
https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR
Let me tell you a story:
EW Story, concern over viability of C4.
Easy to follow financials, Mrkt Cap and Net assets of ~$40M. Net income/EBITDA of -$12.6M in Q2.
Running Phase I / II trials and ramping up for Phase III, not cheap. They need more than they had and capital is hard to get in this market.
But here is the good part, the data is solid, the team is strong, and th...
2025-09-1009 min
Café SYNGAP1Episodio 31: Andrea Amosson, Escritora, Defensora y Madre Desde ChileAndrea es escritora y originaria de Chile. Ella es una madre atípica de corazón valiente, que transformó retos en fuerza. Su amor, lucha y voz son una guía e inspiración para otras familias.Consiga los libros de Andrea aquí!Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):Facebook...
2025-08-0750 min
CURE SYNGAP1 PODCAST aka SYNGAP10Global Overview of SYNGAP1 Natural History Studies - Support the SYNGAP1 #ProMMiS – #S10e175July 16, 2025. Week 29.
What is a natural history study (NHS)? And why do we care?
We care because we haven’t done this before, heal those born with disease.
Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.
NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PR...
2025-07-1717 min
Café SYNGAP1Episodio 30: Conociendo Enfermedades Raras- Italy y Sus Hijas con AMEEn 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 MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1...
2025-07-1159 min
CURE SYNGAP1 PODCAST aka SYNGAP10CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174July 7, 2025 Week 28
ADAMS CAMP
https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/
CENSUS & WHY WE WILL SEE MORE PATIENTS
AAP recommends Whole Exome as a first line test for GDD/ID.
https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_
SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is.
https://curesyngap1.org/census/
https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0
2025-07-0715 min
Café SYNGAP1Episodio 29: Yeleica y Su Hijo Yander Desde ColombiaDesde Colombia, Yeleica nos trae su historia desde el diagnóstico y nos recuerda que a pesar de lo duro que pueda ser este, se va aprendiendo en el camino y se saca lo mejor de ser mamá.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):FacebookTwitterInstagramLinked
2025-07-0533 min
CURE SYNGAP1 PODCAST aka SYNGAP10TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO
https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD
Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua
CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/
CAMP4 Update - Hear it from them, in our US or EU Webinar.
US https://curesyngap1.org/resources/webinars/1...
2025-06-2027 min
Café SYNGAP1Episodio 28: Dina y Su Hija Maya Desde Nueva YorkEn 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 MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):FacebookTwitterInstagram
2025-06-0632 min
Café SYNGAP1Episodio 27: Sabrina y Su Hija Emma Desde Buenos AiresDesde Buenos Aires, Argentina nos acompaña Sabrina Valdez. Ella nos cuenta la historia de Emma, quien fue diagnosticada con Syngap1 en el 2024. Aquí notamos la determinación imparable de una mamá por hacer todo lo posible en buscar las herramientas necesarias que ayuden a su hija.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):Facebook
2025-04-1856 min
Café SYNGAP1Episodio 26: Jaime y Su Hijo Kai Desde ChicagoHola y bienvenidos de nuevo al Café Syngap1 Podcast! Hoy tenemos una historia centrada en la lucha y amor incondicional; Jaime nos comparte su experiencia como cuidador exponiendo las dificultades y resiliencia del día a día.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):FacebookTwitterInstagramLinkedIn
2025-03-1439 min
Café SYNGAP1Episodio 25: Antonia y Su Hija Lina Desde ChileEn este episodio nos acompaña Antonia Monsálvez desde Chile, nos platica sobre su hija Lina quien fue diagnosticada con SYNGAP1 en el 2020. Habla de su historia de valentía, y ganas de darlo todo por el bienestar de su pequeña.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):FacebookTwitterInstagramLinked
2025-01-2934 min
Café SYNGAP1Episodio 24: Paula Osorio y Su Hija Ariana Desde ChilePaula Osorio es mamá de Ariana de 9 años quien fue diagnosticada con Syngap1 en el 2019. Desde Antofagasta, Chile, Paula nos invita a siempre dar la milla extra detrás de un diagnóstico, de no darse por vencido y celebrar cada logro en ese camino con Syngap1.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CURE SYNGAP1 (@curesyngap1):Facebook
2024-12-2054 min
Café SYNGAP1Episodio 23: Valentina Mendoza y Su Hijo Mateo Desde ChileDesde Chile nos acompaña Valentina Mendoza, mamá de Mateo de 4 años diagnosticado en Septiembre 2024. Valentina nos comparte un pedacito de su historia sobre lo difícil de conocer un diagnóstico pero también la incertidumbre de no saberlo, y a pesar de todo que con amor y valentía están dispuestos a luchar cada día para una mejor calidad de vida.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Prue...
2024-12-0438 min
CURE SYNGAP1 PODCAST aka SYNGAP10Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154Friday, 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://sy...
2024-11-1614 min
Café SYNGAP1Episodio 22: Sara Jimenez y Su Hijo Diego, El Primer Paciente de SYNGAP1 Diagnosticado en GuatemalaSara 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 MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificac...
2024-11-1544 min
Café SYNGAP1Episodio 21: Gloria Amparo Guzmán y Su Hija Gloria de 39 Años, Desde ColombiaGloria Amparo Guzmán es madre de Gloria Isabel, quien tiene 39 años y diagnosticada con Syngap1. Originarias de Cali, Colombia, Gloria nos habla sobre los desafíos y retos que ha enfrentado a lo largo de los años. También nos muestra su valentía y firmeza en la búsqueda del bienestar de su hija, siempre con la sonrisa que la caracteriza, enfrentando así las dificultades.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico Genético...
2024-11-0841 min
Café SYNGAP1Episodio 20: Merlina Dávila y Su Hija Rosanna Desde Texas, USAEn este episodio especial, nos tomamos un momento para conocer la historia de nuestra linda anfitriona Merlina Dávila. Originaria de Venezuela, Merlina ahora reside en Texas con su esposo y dos hijas. Merlina nos habla sobre cómo es el proceso de vivir con una niña SYNGAP1, sobre el balance en una familia atípica y sobre su experiencia como colaboradora en el Fondo de investigación SYNGAP.Historia de RosannaBio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDo...
2024-10-1131 min
Café SYNGAP1Episodio 19: Yong Francisco, Hermano de IsabelaEn este episodio nos acompaña Yong Francisco desde la República Dominicana. Yong tiene 17 años y es hermano de Isabela quien tiene 9 años y es diagnosticada con Syngap1. Yong es un jovencito admirable. Nos habla de su historia impresionante, sus logros, y de cómo es ser hermano de una persona con Syngap1. Nos habla del amor que tiene por su hermana, como ella le ha cambiado la vida, y como le ha ayudado a formar la persona que es el.Bio de MerlinaPagina Para Hermanos de Personas co...
2024-09-2716 min
Mas Que RarasDesde Venezuela a Texas: Hablando de SYNGAP1 con Merlina DávilaEn 2014, Merlina llegó de Venezuela y se estableció en Dallas, TX, junto a su familia. En el 2019 su hija Rosanna fue diagnosticada con SYNGAP1 a la temprana edad de 4 años, tras haber sido erróneamente diagnosticada con retraso global del desarrollo e hipomielinización. Merlina comparte con nosotros su proceso de aceptación de este diagnóstico, cómo la motivó a profundizar su comprensión de esta enfermedad y cómo se ha convertido en una líder en la comunidad hispana de SYNGAP1. Además de ser maestra de niños con necesidades especiales, Merlina es la...
2024-09-1830 min
Café SYNGAP1Episodio 18: Elcy Florez y Su Hija Camila Desde Washington, USAElcy Florez es mamá de Camila, quien tiene 11 años, y nos acompaña desde Seattle, USA. Nos cuenta sobre su día a día con su hija menor quien fue diagnosticada con Syngap1, nos habla sobre su camino hacia el diagnóstico y cómo va aprendiendo poco a poco sobre Syngap1 con el propósito de ayudar a su hija.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUU...
2024-08-1730 min
Café SYNGAP1Episodio 17: Dra. Jisbelys SalazarAcceder a información sobre enfermedades raras es complicado-- y la falta de datos adecuados dificulta las decisiones sobre tratamientos y servicios para los pacientes. Algunas enfermedades raras comparten síntomas con otras, como Syngap1. En este capitulo de Café Syngap1, invitamos a la neurólogo-pediatra, Dra. Jisbelys Salazar. Aquí ella resalta la importancia de la detección temprana, el trabajo comunitario, como mantenerse informado y aumentar la concienciación para mejorar los diagnósticos.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones:...
2024-08-0948 min
Café SYNGAP1Episodio 16: Norma Herrera y Su Hija Olivia Desde ArgentinaNorma Herrera nos acompaña desde Argentina. Ella es mamá de Olivia- Olivia tiene 3 años y fue diagnosticada con Syngap1 en Noviembre 2023. Norma es Kinesiologa de profesión, pudiendo así detectar alteraciones en el desarrollo de una niña tan pequeña y siguiendo su instinto maternal nos habla sobre su incesante búsqueda para el diagnóstico correcto de su hija. Nos da una vista rápida de como es el día a día con Olivia y sus necesidades especiales también de cómo enfrenta el diagnóstico de Syngap1 con positivismo de un mejor mañana.
2024-07-0540 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143📝Full show notes: https://syngap.fund/n143
BIO WAS GREAThttps://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp
GRANTS APPROVED
Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!FUNDRAISING
- Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!
- Blane & Ashley Dallen in Canada raised almost $15k via a tournament.
NHS UPDATE...
2024-06-2019 min
CURE SYNGAP1 PODCAST aka SYNGAP10Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143📝Full show notes: https://syngap.fund/n143
BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp
GRANTS APPROVED
Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!
FUNDRAISING
- Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!
- Blane & Ashley Dallen in Canada raised almost $15k via a tournament.
...
2024-06-1919 min
Café SYNGAP1Episodio 15: Gonzalo Bermejo y Su Hija Carlota Desde EspañaBienvenidos a Café Syngap1! Hoy para honrar a los padres, nos acompaña Gonzalo Bermejo. Es el Presidente de la Asociación Syngap1 España, coach y autor del libro "Cómo aprender de la discapacidad de tu hijo".Es padre de Carlota, quien tiene la enfermedad rara Syngap1. Gonzalo es un padre atípico y resiliente que enfrenta la discapacidad con valentía y busca ayudar a otros en su camino. Nos habla sobre su experiencia como padre de Carlota y nos invita a valorar los pequeños detalles de la vida donde se encuentra la verdader...
2024-06-1226 min
The Neurological Disorder Podcast14. Here's an Ally: Syngap1 Foundation ft. Monica Dudley-WeldonSend a textToday's episode features Monica Dudley-Weldon! Not only is she the founder and CEO of the Syngap1 foundation, but she also has a background in biology and teaching and attended Law School. Her son, Beckett, was the 6th person in the world and 3rd in the United States to be diagnosed with Syngap1-Related Disorder, an intellectual disorder often accompanied by autism, epilepsy, and other behavioral abnormalities. In this episode, Monica delves into the relatively unknown symptoms of this condition and treatments, such as ASOs (Antisense Oligonucleotide Therapy), that are currently being researched. Wh...
2024-05-201h 00
Café SYNGAP1Episodio 14: Diana Ramirez y Su Hija Luhana Desde PerúAhora nos vamos al Sur de América para oír la historia de Diana Ramirez y su hija Luhana. Su caso fue el primer diagnóstico con Syngap1 encontrado en Perú. Con un reciente diagnóstico, Diana nos abre las puertas de su hogar para contarnos todo sobre el proceso de obtener un diagnóstico y cómo poco a poco se va informando y conociendo más de Syngap1 con el propósito de ayudar a su hija. Entre todo, nos demuestra su valentía y resiliencia para salir adelante.Bio de Me...
2024-04-1927 min
SYNGAP1 StoriesRainy Schlosser, SYNGAP1 Mom to Hope, discusses her 4-year-old daughter's journey in life and across the US for 3 studies!Show Notes
Rainy Schlosser is in the middle of a 7,500 mile drive-a-thon to participate in 3 studies to help find a cure for SYNGAP1. She talks with Ashley about the studies, her daughter Hope's incredibly difficult medical journey, what makes Hope happiest, an EEG with Curious George, and the wonderful connections they are making along the way! This is a fundraiser, so please check out Syngap.Fund/Hope4theCure!
All episodes are available at Syngap.Fund/Stories.
Hope's Warrior Story
My SYNGAP1 Drive-a-thon, Hope4theCure
Connect with Rainy & Hope:
Instagram - @Hope4theCure
YouTube...
2024-04-1242 min
Café SYNGAP1Episodio 13: Lucía María, Traductora del Libro "Mas de Todo"Lucía María es escritora de profesión, editora y traductora que vive en Guadalajara, México. Nos comparte su pasión y experiencia con la escritura, traducción de texto, el lenguaje en diferentes culturas. También nos cuenta su experiencia con el Libro “Más de Todo”, escrito por Janie Reade que se trata de como una madre alivió sus cargas emocionales y mejoró para su hijo que es diagnosticado con Syngap1. Al hacer la traducción de Más de Todo, de cierta forma Lucía acompaña a Janie en ese camino donde ella iba haciendo difer...
2024-04-0430 min
Café SYNGAP1Episodio 12: Victoria Polanco, Hermana de Esperanza y LibertadEn un especial de Hermanos, nos acompaña Victoria Polanco desde California, quien nos comparte su historia de cómo es ser hermana no de una, sino de gemelas con la enfermedad rara SYNGAP1. Ella nos demuestra a través del amor lo que ha aprendido para cuidar de ellas y protégelas. Nos cuenta de cómo sus hermanas han moldeado su vida de forma positiva estando al servicio de otros que también pasan por circunstancias similares. Nos habla de los servicios y apoyos que merecen los hermanos de personas afectadas por una enfermedad rara y que de alg...
2024-03-0728 min
SYNGAP1 StoriesJackie Kancir, SYNGAP1 Mom and Advocacy Leader for SRF talks about daughter Jadyne and shares advice for all rare disease parents.Show Notes
In this special episode, guest host Jessica Johnson talks with Jackie Kancir. The two SYNGAP1 Moms discuss education systems, on the farm with Jadyne (Jackie's daughter), make-up, behavioral issues, Jadyne's optimism, and advocating for your children! This episode will educate everyone in the rare disease world. Behavior is communication - listen for details!
See all episodes at Syngap.Fund/Stories.
Jadyne's Warrior Story
Connect with Jackie:
jackie@curesyngap1.org
Jackie's SRF bio
LinkedIn
Other Links
SRF SYNGAP1 Resources for Education & Advocacy
SYNG...
2024-03-0343 min
Café SYNGAP1Episodio 11: Claudio Díaz y Su Hijo Francisco Desde ArgentinaEn este episodio tenemos un invitado especial desde Argentina. Claudio Díaz es papá de Francisco quien tiene 9 años y fue diagnosticado con SYNGAP1 en 2021. Nos habla sobre su vida después del diagnóstico- cómo se compatibiliza el trabajo, consultas médicas, terapias y cuidados de un niño con necesidades especiales. También nos habla de cómo es el rol de un papá cuidador, y comparte herramientas que pueden ayudar a otras familias en este camino.Historia de FranciscoBio de MerlinaInformación sobre C...
2024-02-1834 min
SynGAP10 weekly 10 minute updates on SYNGAP1What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611
B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)
C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)
D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability
E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)
F. SYNGAP1 Related-ID - ICD-10 & Hopkins
- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120...
2024-02-1413 min
CURE SYNGAP1 PODCAST aka SYNGAP10What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611
B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)
C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)
D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability
E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)
F. SYNGAP1 Related-ID - ICD-10 & Hopkins
- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)
- h...
2024-02-1413 min
SYNGAP1 StoriesPaulina Polanco, SRF volunteer and sibling to twin sisters with SYNGAP1 shares her very personal story of loss of what could have been, love, and hope.Show Notes
The most moving episode yet! Paulina Polanco is caregiver to her twin sisters Libertad (Libby) and Esperanza (Espy). She delivered a raw, personal address at the 2023 SYNGAP1 Conference hosted by SRF. This episode not only includes that speech, but Ashley talks candidly to Paulina to expand upon her life with twin Syngapians. See all episodes at Syngap.Fund/Stories.
Warrior Story for Libby & Espy
Connect with Paulina:
Instagram
Facebook
Blog Posts Written by Paulina:
SRF – Our Voice is Getting Louder for SYNGAP1!
SYNGAP1 Family Day 2023...
2024-02-1352 min
Café SYNGAP1Episodio 10: Episodio Especial en la Conferencia de SYNGAP1 con Dr. Alfredo González Sulser y Dr. Andrés JimenezEn este episodio especial, platicamos con dos doctores, Dr. Alfredo González Sulser y Dr. Andres Jimenez en la Conferencia SYNGAP1 en Orlando 2023. En el Fondo SYNGAP1 de America Latina estamos unidos trabajando incansablemente para conocer sobre avances científicos, investigaciones en curso, e información para padres y cuidadores. Todo esto alineado con un mismo fin- la cura para SYNGAP1.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUU...
2024-02-0512 min
SYNGAP1 StoriesJessica Johnson, SRF Volunteer and SYNGAP1 Mom shares her positive outlook on raising her son Kai.Show Notes
Living with SYNGAP1 can be challenging, but approaching it with a positive outlook is important. Listen to Jessica Johnson chat with Ashley to talk about her son Kai, who has SYNGAP1. They discuss iPads, music & guitars, finding your community, and more. See all episodes at Syngap.Fund/Stories.
Kai's Warrior Story
Connect with Jess:
Instagram
Instagram (Kai's account)
Connect with Ashley:
afrye@curesyngap1.org
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://curesyngap1.org/
SYNGAP1 Resource...
2024-01-3046 min
Café SYNGAP1Episodio 09: Encarnación Postigo y Su Hija Celia Desde EspañaEncarnación Postigo, mamá de Celia, nos acompaña desde España. Ella es una madre y profesora que luchó incansablemente por obtener un diagnóstico para su hija. También abogó para que se respetaran los derechos de las características de cada individuo según sus diagnósticos, dirigido a colegios y centros educativos. Es escritora de libros y su tesis que sin duda son muy importante para nuestra comunidad.Historia de CeliaBio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?...
2024-01-1929 min
SYNGAP1 StoriesHilary Volz, SYNGAP1 Mom to Brycen, talks about Disney movies, genetic testing, behaviors, & more!Show Notes:
We open 2024 where we left off in 2023 - great advice! Hilary Volz joins Ashley to talk about her son Brycen, who has SYNGAP1. They discuss Brycen's favorite (and not so favorite) Disney movies, genetic testing, severe behaviors, his super sibling Kallen, and more. See all episodes at Syngap.Fund/Stories.
Brycen's Warrior Story
Connect with Hillary:
Facebook
Instagram
Other Episode Links:
Fragile X
Helen DeVos Children's Hospital Intensive Feeding Clinic
Connect with Ashley:
afrye@curesyngap1.org
SRF Bio
Link...
2024-01-0936 min
Café SYNGAP1Episodio 08: Luz Cornelio y Su Hija Kasandra Desde ChicagoConozcamos a Luz- mamá de una niña SYNGAP1, Kasandra, desde Chicago. Nos cuenta cómo son los desafíos del día a día de la vida inherente a la crianza de una niña con necesidades especiales, como lo afrontan y que hacen para salir adelante en la dinámica familiar cotidiana.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgCon
2024-01-0529 min
SynGAP10 weekly 10 minute updates on SYNGAP1Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127
12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/
9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx
9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html
10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was i...
2023-12-1510 min
Café SYNGAP1Episodio 07: Marisol Parra y Su Hija Isabella Desde Republica DominicanaHoy tenemos la oportunidad de conocer a Marisol Parra desde Republica Dominicana donde nos cuenta sobre su hija Isabella diagnosticada con SYNGAP1. Cabe resaltar que Marisol ha tenido que reinventarse y emprender una forma de trabajo que le permita dedicar tiempo a Isabella ya que cuando se tiene diagnósticos así como cuidadora ella siente la gran responsabilidad de cuidar y asistir a su hija con SYNGAP1 pero con el amor más profundo que una madre puede sentir.Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?...
2023-12-1531 min
SYNGAP1 StoriesSpecial Episode - On Giving Tuesday, we present the best advice from SYNGAP1 Stories guests from the past year!Show Notes:
This is the Best Episode of 2023! Every SYNGAP1 parent had a story to tell Ashley and advice for others. This compilation has it all! Good advice is good at any time, no matter how many times you hear it, and this episode has a lot of advice that relates to all in the Rare Disease Community. We hope you enjoy, and if you’ve missed any episodes, you can see them all at Syngap.Fund/Stories.
Please help us on Giving Tuesday so that we can continue our effort to find a cure for al...
2023-11-2850 min
Café SYNGAP1Episodio 06: Teresa Jimenez y Su Hijo Santiago Desde MexicoTeresa Elizabeth Jimenez nos acompaña desde México y nos comparte su historia hacia el diagnóstico de Santiago de 10 años y la convivencia con Syngap1. Teresa es Mama de dos niños, licenciada en educación y escritora del varios blogs en Español. Abajo incluimos los enlaces de los blogs.Notas de TerlizRueda de la FortunaVacacionar con un Syngap1Regreso a Clases con Nuestros Pequeños Syngapians. Bio de TeresaHistoria de SantigoBio de ...
2023-11-1636 min
Café SYNGAP1Episodio 05: Liliana y Su Hijo Simón Desde ColombiaLiliana y Simón viven en Colombia y nos acompañan para contarnos de como es su vida día a día con Syngap1.Liliana comparte su experiencia sobre crear rutinas, terapias, su familia y el amor incondicional que tienen para Simón.Historia de SimónBio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades ...
2023-11-0324 min
SYNGAP1 StoriesFAQs for SRF’s SYNGAP1 Conference 2023 - Operations Mgr. Lauren Perry joined Ashley recently with all you need to know.Show Notes:
This episode is dedicated to the upcoming SYNGAP1 Conference 2023, hosted by SRF. Pricing goes up after 10/31. Registration closes 11/8. Don't delay! Register now here! Special Thank you to our sponsors, including our Gold-level sponsors, Stoke Therapeutics / Acadia Pharmaceuticals!
Book your rooms here
Order T-shirts here
Friday night Caregiver Dinner tickets here
Lauren Perry - SRF Bio
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - ...
2023-10-3115 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
htt...
2023-10-2517 min
CURE SYNGAP1 PODCAST aka SYNGAP10SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
https://www.syngapresearc...
2023-10-2517 min
Café SYNGAP1Episodio 04: Teresa y Su Hija Maria Desde EspañaTeresa nos acompaña desde España y nos habla sobre Maria quien tiene Syngap1. Nos brinda unas lindas palabras de inspiración para las familias con personas especiales.Merlina y Teresa hablan como la pasan con Syngap1, sobre terapias, escuela, las pasiones de Maria, y su relación con sus hermanos. Bio de MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:CURE SYNGAP1Que es SYNGAP1?Recursos en EspañolDonaciones: https://curesyngap1.org/donate/SYNGAP1 & EpilepsiaPorque es Importante Obtener un Diagnóstico GenéticoCómo Obtener Pruebas Genéticas Gratuitas en EEUUPlanificación Financiera Futura para las Personas con Discapacidades Comentarios: paulina@curesyngap1.orgConéctate con CU
2023-10-2025 min
Café SYNGAP1Episodio 03: Marcos y Su Hijo Lucas Desde AlemaniaMarcos 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 MerlinaInformación sobre Cure SYNGAP1 & SYNGAP1:...
2023-10-2024 min
SYNGAP1 StoriesJulie Miles, SRF BOD member, talks about Miller's SYNGAP1 journey, getting 'The Call', activities Miller loves, the upcoming Scramble for SynGAP, & patience.Show Notes:
Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP’ in Traveler’s Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming!
Julie’s SRF Bio
WSPA-7 News Video
Scramble for SynGAP
Follow Ashley Frye:
SRF Bio
LinkedIn...
2023-10-0347 min
CURE SYNGAP1 PODCAST aka SYNGAP10Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117CALLS TO ACTION
Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this surveySurvey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
Tweet https://x.com/PedsGCAbby/status/1706446478904811750
Great papers
Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
https://x.com/cureSYNGAP1/status/1706770818703953955
Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism model...
2023-09-3011 min
SynGAP10 weekly 10 minute updates on SYNGAP1Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117CALLS TO ACTION
Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this survey
Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
Tweet https://x.com/PedsGCAbby/status/1706446478904811750
Great papers
Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
https://x.co...
2023-09-3011 min
Café SYNGAP1Episodio 02: Juanita y Sus Hijas Esperanza y LibertadBienvenidos de nuevo a Café SynGAP1!En este episodio nos acompaña una invitada especial, Juanita Polanco. Juanita y su hermosa familia son de California con 5 hijas, dos de ellas son mellizas con Syngap1. Juanita nos cuenta sobre los retos, la experiencia y la esperanza que han vivido.Nuestra anfitriona Merlina habla con Juanita sobre el diagnóstico, el tiempo que tomó, los cambios, sin duda llenos de altas y bajas pero que han sido de aprendizaje y amor.Historia de Libby y EspyBio de ...
2023-09-2724 min
SYNGAP1 StoriesSydney & Brett Stelmaszek, SRF volunteers, share their journey with their 3 sons to find the best care for Emmitt, diagnosed w/ SYNGAP1 in 2019.Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children’s Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is...
2023-09-191h 08
CURE SYNGAP1 PODCAST aka SYNGAP10Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116Congrats to…
- Allan Blake on his airborne fundraiser for SRF UK
- Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes)
- Beacon on their FDA approval on the Sleep Headband Dream 3S
- Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
...
2023-09-1912 min
SynGAP10 weekly 10 minute updates on SYNGAP1Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
Sti...
2023-09-1912 min
SYNGAP1 StoriesVicky Arteaga is the Latin America Director of SRF & SYNGAP1 Mom to Amelia. Her efforts help the SYNGAP1 community in Latin America & across the globe.Show Notes
Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia’s progress, the joy she brings to the family, a new service dog, SRF’s latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish.
Amelia’s Warrior Story & Instagram Post
Vicky’s Bio
Follow Vicky:
Instagram - @vickyart78
Instagram Fondo - @synga...
2023-09-1235 min
SYNGAP1 StoriesMike Graglia, SRF Managing Dir. & SYNGAP1 Dad to Tony. Going back to school can be difficult. Tony's experience shows that it's so much harder for kids with SYNGAP1!Show Notes
Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure...
2023-08-3051 min
Café SYNGAP1Episodio 01: Valeria Torcetta y Su Hija Charo- La Primera Paciente Diagnosticada con SynGAP1 en America LatinaBienvenidos a nuestro nuevo podcast, Café SynGAP1! En nuestro primer episodio, nos acompaña Valeria Torcetta, una invitada especial quien nos habla sobre Charo, su hija con Syngap1, y primera paciente diagnosticada en America Latina y Argentina. Nuestra anfitriona Merlina habla con Valeria sobre lo que ha sido el Syngap1 en la vida de Charo como se han enfrentado a los desafíos, su compromiso y labor incansable por dar a conocer esta patología y promover el diagnostico en Argentina.Historia de CharoBio de Merlina
2023-08-2152 min
CURE SYNGAP1 PODCAST aka SYNGAP10Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112Congratulations to Dr. Knowles, read our press release.
https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy
Check out the CSC Clinic at Stanford
https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1
Don’t miss #S10e111 to learn about Dr. Helbig
https://www.youtube.com/watch?v=i6EZUrqsn2g
In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian
https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf
Congratulations to Dr. Kadam for the SR...
2023-08-1812 min
SynGAP10 weekly 10 minute updates on SYNGAP1Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112Congratulations to Dr. Knowles, read our press release.
https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy
Check out the CSC Clinic at Stanford
https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1
Don’t miss #S10e111 to learn about Dr. Helbig
https://www.youtube.com/watch?v=i6EZUrqsn2g
In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian
https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf
Congratulations to Dr. Kadam for the SR...
2023-08-1812 min
SYNGAP1 StoriesThis week's guest is Stefanie Decker, SYNGAP1 Mom to 5-year-old Saydee, who has "the best smile"!Show Notes:
Ashley and SYNGAP1 Mom Stefanie Decker chat about 5-year-old Saydee. Diagnosed in 2020, Saydee loves water, is a local “celebrity”, and has “the best smile’! Listen to their SYNGAP1 journey and how they handle the ups and downs of living with a rare disease.
Stefanie’s SRF BIO
Saydee’s Warrior Story
More links:
2022 Caregiver Connect - blog written by Stefanie
CHOP Natural History Study
Follow Ashley Frye:
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SYNGAP1 Stories Episode 005 - Pand...
2023-07-2531 min
SynGAP10 weekly 10 minute updates on SYNGAP1FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109Guest Hosts: Ashley Frye & Lauren Perry
THE BASICS
Who: Everyone! Families (including extended), caregivers, scientists, industry reps.
What: SRF’s 2nd Annual SYNGAP1 Conference.
- Registration link: Syngap.Fund/2023ConfReg
Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center.
- Room block: https://Syngap.Fund/2023hotel
When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that.
Why: Once in a year opportunity to be in the sam...
2023-07-2014 min
CURE SYNGAP1 PODCAST aka SYNGAP10FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109Guest Hosts: Ashley Frye & Lauren Perry
THE BASICS
Who: Everyone! Families (including extended), caregivers, scientists, industry reps.
What: SRF’s 2nd Annual SYNGAP1 Conference.
- Registration link: Syngap.Fund/2023ConfReg
Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center.
- Room block: https://Syngap.Fund/2023hotel
When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that.
Why: Once in a year opportunity to be in the same roo...
2023-07-2014 min
SYNGAP1 StoriesIn this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon.Show Notes:
In this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon. She describes his first seizures, aggression, going to church, the impact of COVID changing his schedule, and how it affected the entire family. This is an important glimpse into the struggles and joys a strong family living with SYNGAP1 faces.
Monica's SRF bio
Jaxon's Warrior Story
More links:
Jayden’s Juice
Follow Ashley Frye:
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
S...
2023-07-111h 00
SYNGAP1 StoriesAshley chats with SRF Co-Founder, and SYNGAP1 Mom to Tony, Ashley Evans on the 5th birthday of SRF!Show Notes:
In Episode 11, our host, Ashley, chats with SRF Co-Founder and SYNGAP1 Mom Ashley Evans to celebrate SRF's 5th birthday! They talk about starting SRF, progress made during the past five years, the dedicated community of SRF volunteers, hope for the future, moving, and, of course, Syngapian Tony and his now 5-year-old brother John.
Ashley's SRF bio
Tony's Warrior Story
More links:
Interview with Kayo Conferences
SRF Introductory Video
A Message to the Newly Diagnosed SynGAP-1 Parent
Meet the Global Village of...
2023-06-2739 min
SYNGAP1 StoriesAshley talks with Danielle Williams, Mom to two daughters in Australia, each with SYNGAP1.Show Notes:
Episode 10 comes from "down under" as Ashley talks with Danielle Williams, Mom to two daughters, now 13 & 11 years old, each with the same de novo SYNGAP1 mutation. They talk about the heartbreaks of two diagnoses, living with no sleep, connecting to the community, advice to newly diagnosed families, and the joys of cuddling with a teenager.
Jaeli & Dali’s Story
Williams Family Story
Raising Awareness in the Early Days
Follow Danielle: LinkedIn
Danielle's Business Website
Additional Reading - Five Things Parents Need to Know
2023-06-1343 min
SYNGAP1 StoriesIf you know about SYNGAP1, you likely know this week's guest Lauren Perry, SRF's Operation Mgr. Lauren & Ashley share stories about Will & more than a few laughs!Show Notes:
In Episode 9, Ashley talks with SYNGAP1 Mom & SRF Operations Mgr. Lauren Perry. These two talk about Lauren’s 2 teenage sons, including Will, diagnosed in 2016, seizures, and Will’s recent successful VNS replacement surgery. They also chat about his typical day, markers, and pride in the SRF community.
Will’s Warrior Story
VNS Therapy
Follow Lauren:
Twitter
Email: lauren@curesyngap1.org
Follow Ashley Frye:
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SYNGAP1 Stories Episode 005 - Panda
Panda...
2023-05-3038 min
SYNGAP1 StoriesAshley chats with Certified Christian Life Coach Heather Bensch about her daughter McKaela, who was diagnosed with SYNGAP1 as an adult.Show Notes:
In Episode 8, Ashley talks with SYNGAP1 Mom Heather Bensch, whose daughter McKaela was diagnosed in her 20s. Heather talks about her struggles getting a diagnosis as well as the joys of raising McKaela. Heather is a certified life coach working with and advocating for the special needs community.
McKaela’s Warrior Story
McKaela’s Spark for Autism Story
McKaela’s Facebook Blog
A Sister’s Promise - a post to McKaela from her sister Plum
Follow Heather:
Facebook
Instagram
Twitter
2023-05-1637 min
SYNGAP1 StoriesPeter Halliburton, SYNGAP1 Dad & head of SRF's Resource Mobilization team, joins Ashley.Show Notes:
In episode 7, SYNGAP1 Dad Peter Halliburton joins Ashley to discuss volunteering with SRF in the "early days" compared to now, receiving his son Carter's diagnosis, dealing with seizures, changing doorknobs, and appreciating the joys in Carter's daily life.
Carter's Warrior Story
Follow Peter Halliburton:
Instagram
Twitter
LinkedIn
Contact Peter at peter@curesyngap1.org.
More about the Halliburton Family:
Halliburton Family Video
Cook Children's Hospital Article
Blog by Peter - 8 Months on the Rollercoaster of...
2023-05-0246 min
SYNGAP1 StoriesKali Worth, SYNGAP1 Mom to Kailyn (Kai) is Ashley's guest.Show Notes:
In Episode 4, Ashley talks with SYNGAP1 Mom Kali Worth. Kali talks about missing milestones, epilepsy, genetic testing, expanding your community as a rare parent as well as the joys Kailyn (Kai) brings to her life.
Kai’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/kai
Read Kali's SRF bio, blogs and a video of Kai’s story here.
Follow Kali on Twitter: https://twitter.com/WorthKali
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Donate: https://Syngap.Fun...
2023-03-2132 min
CURE SYNGAP1 PODCAST aka SYNGAP10Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95
It’s RARE DISEASE DAY! Hattie has a new video!
https://www.syngapresearchfund.org/families/movies
I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation
- https://ncats.nih.gov/news/events/rdd
- https://everylifefoundation.org/rare-advocates/rare-disease-week/
We have a $20k match!
- https://syngap.fund/rdd23
- https://s...
2023-02-2818 min
SynGAP10 weekly 10 minute updates on SYNGAP1Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95It’s RARE DISEASE DAY! Hattie has a new video!
https://www.syngapresearchfund.org/families/movies
I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation
- https://ncats.nih.gov/news/events/rdd
- https://everylifefoundation.org/rare-advocates/rare-disease-week/
We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
Deadline for Grants is 3/1
- https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 15 Teams! Eight already raising funds: Team...
2023-02-2818 min
SynGAP10 weekly 10 minute updates on SYNGAP1Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - Date TDB - https://syngap...
2023-02-2311 min
CURE SYNGAP1 PODCAST aka SYNGAP10Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- J...
2023-02-2311 min
SYNGAP1 StoriesOur Host - Ashley Frye tells her family's SYNGAP1 StoryShow Notes:
Host Ashley Frye discusses her family's journey to a SYNGAP1 diagnosis for her son Nathan and living with and caring for a young child with a rare disease.
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Follow Ashley:
Facebook: https://www.facebook.com/ashley.hewettfrye
LinkedIn: https://www.linkedin.com/in/ashley-frye-62095582/
Nathan’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan
Connect with SRF:
Facebook: https://www.facebook.com/cureSYNGAP1
Tw...
2023-02-0729 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why we need to keep talking about SYNGAP1 #S10e91Why we need to keep talking about SYNGAP1 #S10e91
Press is good!
- Short link: https://syngap.fund/nw
- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362
Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf
Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science D...
2023-02-0109 min
CURE SYNGAP1 PODCAST aka SYNGAP10Why we need to keep talking about SYNGAP1 #S10e91Press is good!
- Short link: https://syngap.fund/nw
- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362
Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf
Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science Day!
https://www.sy...
2023-02-0109 min
CURE SYNGAP1 PODCAST aka SYNGAP10Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90Seven Ways to help:
- Post a video with a seizure
- Take a 10 minute survey
- Tell us how you feel about Simons and Rare-X
- Signup for or Update Ciitizen
- Signup for or share a Wednesday Warrior
- Buy JR’s book and give it to someone
- Plan your fundraiser this year
Videos of kids with seizures. #SYNGAPseizure
#biomarker
Help Research with this brief survey. Tell a friend and share these links...
2023-01-2111 min
SynGAP10 weekly 10 minute updates on SYNGAP1Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90Seven Ways to help:
- Post a video with a seizure
- Take a 10 minute survey
- Tell us how you feel about Simons and Rare-X
- Signup for or Update Ciitizen
- Signup for or share a Wednesday Warrior
- Buy JR’s book and give it to someone
- Plan your fundraiser this year
Videos of kids with seizures. #SYNGAPseizure
#biomarker
Help Research with this brief survey. Tell a friend and share these links - 150 & counting, $50 each.
2023-01-2111 min
SynGAP10 weekly 10 minute updates on SYNGAP1New Grant, Rare Affair, SYNGAP1 research and events #S10e88NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK
LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568
Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl
Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences
#RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
https://www.linkedin.com/in/allyson-berent-36621523/
Saving Ryan -
#BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED
https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL
GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU
https://www...
2023-01-1012 min
CURE SYNGAP1 PODCAST aka SYNGAP10New Grant, Rare Affair, SYNGAP1 research and events #S10e88NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK
LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568
Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl
Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences
#RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
https://www.linkedin.com/in/allyson-berent-36621523/
Saving Ryan -
#BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEED...
2023-01-1012 min
DNA Today: A Genetics Podcast#217 SynGAP1 with Mike Graglia and Elli BrimblePatient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene.
Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World...
2022-12-3036 min
CURE SYNGAP1 PODCAST aka SYNGAP10#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85
Dr. Grinspan on AES
https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan
Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022
Dr. Dennis Lal on AES & Genetics
https://twitter.com/LalDennis/status/1600617199110070286
Mike’s Talk at AES
https://twitter.com/LouisTDang/status/1598753675714887684
https://twitter.com/IDreamofGenes/status/1598753872172191745
https://twitter.com/john_oldenhof/status/1598756993073717249
CAMP4 Poster by Ali Al Abdullatif, MsC
htt...
2022-12-2911 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY!
https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984
https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3
GRANT ALERT
Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873
COMPANY UPDATE
Stoke Tx https://www.stoketherapeutics.com/
Praxis Medicine https://praxismedicines.com/
Rarebase https://www.rarebase.org/
Beacon Biosignals https://beacon.bio/
Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax
Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride
Tevard https://tevard.com/
...
2022-10-0509 min
Looking Forward®: It's All About Opportunities!SYNGAP1: A FACTOR IN AUTISM, EPILEPSY, AND OTHER MEDICAL CONDITIONS, TOO? (EPISODE #1)Hi everyone. Welcome to the premier episode of "Health Care on the Horizon," Looking Forward's new "sister" podcast. Today we’re going to learn about a genetic disorder referred to as SYNGAP1. Most of us have probably never heard of SYNGAP1. That’s largely because it’s only recently been identified. Research is showing it is a significant factor in autism, epilepsy, and possibly other disorders, too, including Parkinson’s disease, schizophrenia, and Alzheimer’s disease.To help us understand what SYNGAP1 is... and much more, we’ve brought on probably the best person out there to dis...
2022-08-1123 min
Health Care on the HorizonSYNGAP1: A Genetic Disorder Involved in Autism, Epilepsy, and Maybe Alzheimer's, Parkinson's, and SchizophreniaHi everyone. Today, we're going to learn about a genetic disorder referred to as SYNGAP1. Most of us have probably never heard of SYNGAP1. That's largely because it's only recently been identified.Research is showing it is a significant factor in autism, epilepsy and possibly other disorders too, including Parkinson's disease, schizophrenia and Alzheimer's disease. In this episode, we'll learn when the problems with the SYNGAP1 gene were discovered, who this affects, where the SYNGAP condition presents itself.We'll also What is being done right now to learn about this genetic disorder and...
2022-08-1123 min
SynGAP10 weekly 10 minute updates on SYNGAP1Let’s catch the Genetic Therapy Tsunami for SYNGAP1!Let’s catch the Genetic Therapy Tsunami for SYNGAP1!
Episode 40 of #Syngap10 - December 17, 2021
- Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150!
- Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL
- ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
...
2021-12-1809 min
CURE SYNGAP1 PODCAST aka SYNGAP10Let’s catch the Genetic Therapy Tsunami for SYNGAP1!Episode 40 of #Syngap10 - December 17, 2021
- Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150!
- Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL
- ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
- Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! ht...
2021-12-1809 min
SynGAP10 weekly 10 minute updates on SYNGAP1Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.
Episode 38 of #Syngap10 - December 4th, 2021
Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers.
The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021
Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1
Raise funds for SYNGAP1
- Facebook Fundraisers: http://syngap.fund/FBFun
- Giving Tuesday Fundraiser: https://syngap.fund/gt21
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
- Sign up for...
2021-12-0409 min
CURE SYNGAP1 PODCAST aka SYNGAP10Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.
Episode 38 of #Syngap10 - December 4th, 2021
Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers.
The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021
Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1
Raise funds for SYNGAP1
- Facebook Fundraisers: http://syngap.fund/FBFun
- Giving Tuesday Fundraiser: https://syngap.fund/gt21
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
- Sign...
2021-12-0409 min