SynGAP10 weekly 10 minute updates on SYNGAP1

De: Syngap Research Fund 501(c)(3)
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  • 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/
    Copyright 2021-3. Syngap Research Fund. All rights reserved.
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Episodios
  • UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150
    Sep 24 2024
    UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150 📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ FRAZIER STUDY https://Syngap.Fund/Eye2 khuba@jcu.edu Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914 SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/ Chronic Grief Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w Conference - Conference is 72 days away Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srfBook a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-ASponsor alongside Jones, Wieczrek and Graglia. PR out this week Lacoste (https://Syngap.Fund/PR28) https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/Devinsky (https://Syngap.Fund/PR29) https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/ UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh! September 23 3:00 Eastern to Sept 30 noon. https://www.justgiving.com/page/ufd-2024https://www.youtube.com/watch?v=DtOyV2FNJ-s PRESS ABOUT FOF (Friends of the Fund) Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome RESEARCH UPDATE There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024! Now tied for 2nd place with 2009, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Three papers to note: Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $8,173 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Charmander $5,303 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,140 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,789 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,736 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 439 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 150 of #Syngap10 - Tuesday, September 24th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    23 m
  • Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

    Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149
    Sep 10 2024
    📝Full show notes: https://syngap.fund/n149 FRAZIER STUDY https://Syngap.Fund/Eye2 khuba@jcu.edu SRD JOINS CFC #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ PRESS ABOUT FOF (Friends of the Fund) Praxis https://firstwordpharma.com/story/5891543 Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/ RESEARCH UPDATE There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Three papers to note: Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE CHRONIC GRIEF We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families. VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! Smarts for Syngap - DC Trivia Night - Congratulations Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $8,147 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Charmander $5,150 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients) CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,090 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,600 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 429 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 149 of #Syngap10 - Monday, September 9th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    17 m
  • Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

    Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148
    Aug 22 2024
    📝Full show notes: https://syngap.fund/n148 BACK TO SCHOOL 2024 Push the schools to do better, at every turn. Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia STUDY https://Syngap.Fund/UB (Unravel Biosciences) 3 forms to fill out, please let us know if you want to participate. PRESIDENT & COO SEARCH https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/ RESEARCH UPDATE There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in 2024! Tied for 3rd place, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID https://pubmed.ncbi.nlm.nih.gov/39148034/ PRESS ABOUT FOF (Friends of the Fund) Fondo joins FECOR - ​​https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1 JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues TJB - X https://x.com/JMGraglia/status/1825949467973136804 L https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktop F https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl VOLUNTEER NEEDS Thank you Grants, Aaron & Sarah Fundraising and Finance Volunteer! https://curesyngap1.org/volunteer-with-srf/ https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024 Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $6,549 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 57 for Science Day & 66 for Family Day CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,744 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,375 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 420 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 148 of #Syngap10 - Wednesday, August 21th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    23 m

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