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SynGAP10 weekly 10 minute updates on SYNGAP1Author: Syngap Research Fund, 501(c)(3)
Over 1200 families are caring for a loved one with the rare disease SynGAP resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/ Language: en Genres: Business, Health & Fitness, Medicine, Non-Profit Contact email: Get it Feed URL: Get it iTunes ID: Get it |
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TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25
Episode 174
Friday, 20 June, 2025
It’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/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ Amlexanox and Cool Science Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/ Inaugural New Family Webinar Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ STUDIES - MATTER ORTAS (need many, 27 signed up, 8 completed.) https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/ BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/ “Dear Families, This is a brief update on the Communication abilities in Children with Genetic Conditions study. The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions. We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available. With best wishes, Harriet and the Communication abilities in Children with Genetic Conditions study team.” PRESS JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/ Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/ Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/ Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/ NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45 FUNDRAISING Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/ MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate Liam https://donate.curesyngap1.org/campaign/696438/donate Story https://donate.curesyngap1.org/campaign/695981/donate Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate Pubmed is at 24 (so less than one a week…) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068 Cunnane DCM is out and Ingo noticed! https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,185 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,380 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,314 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 173 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
