Episodes

  • 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 mins
  • 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 mins
  • 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 mins
  • #SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

    #SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147
    Aug 12 2024
    📝Full show notes: https://syngap.fund/n147 FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24 SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing. https://curesyngap1.org/team/leadership-team/jackie-kancir/ ADULT ADVOCACY SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQk Foundation: https://colinfarrellfoundation.org/ WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/ LEVERAGE PARTNERS https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/ Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/ SCIENCE TEAM PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel PROJECT FACILITATE - Tools and Reagents - Mice work in flight RESEARCH UPDATE There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024! We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers. I’ve seen multiple papers being submitted lately, it’a actually hard to keep up. LINK LATEST PAPER: https://www.eurekalert.org/news-releases/1053579 WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/ FUNDRAISERS! Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/ 3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb) Smarts for Syngap - DC Trivia Night - 24 Days! Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 68 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 $6,449 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 116 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 - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs) 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 - 3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,168 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 418 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 Cafe Syngap1 #17 https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811 Episode 147 of #Syngap10 - Sunday, August 11th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    21 mins
  • Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

    Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146
    Jul 27 2024
    📝Full show notes: https://syngap.fund/n146 Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110 Newsletter #39 - syngap.fund/NL39 https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566 Cafe Syngap16 https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/ Zempleni Grant https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/ Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-history-study-at-childrens-hospital-colorado/ Will not collect for biobank! Top 5 from Abbott webinar: Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest. This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research.Model successful with other rares, ie CDKL5 and STXBP1.Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned.SRF board approved travel reimbursement. Dinner on Saturday, talk to Lauren To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, Lauren@curesyngap1.org. FUNDRAISERS! Scramble for Syngap - 70 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 83 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,534 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5,799 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 131 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 CB Blood Donation accelerates Science! These samples are being used today! Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) 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 Hi Zoe! Do you have LGS? Harmony Biosciences bought Epigenyx https://www.prnewswire.com/news-releases/harmony-biosciences-acquires-epygenix-therapeutics-inc-adding-late-stage-epilepsy-franchise-to-growing-pipeline-of-innovative-cns-assets-302131000.html This write is a bit incomplete as it just says 5-HT2, which is a just receptor family: 5-HT2A 5-HT2B - this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor 5-HT2C - bexicasarin selectively activates this. SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,060 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,703 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,016 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 417 TikTok https://www.tiktok.com/@curesyngap1 Here is a way to use it #SyngapSeizure 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 146 of #Syngap10 - July 27, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    27 mins
  • A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145

    A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145
    Jul 12 2024
    📝Full show notes: https://syngap.fund/n145 2020 COBA GRANT https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/ SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/ 2022 QUADRATO GRANT & 2022/3 PAPER MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full SRF PR: https://www.eurekalert.org/news-releases/1050685 2022 ANDERSON GRANT & 2024 PAPER Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/ Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/ Transformatx Biotheraputics LLC: https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer TAKEAWAY: Focus on the clinic, and let the best therapy win. CLINICAL NETWORK / NHS UPDATE COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, Lauren@curesyngap1.org. CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ FUNDRAISING Missense Account of the Fund $10k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5k+ 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 Rare Across America is 24 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 146 days away & 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 CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) 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) NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,050 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,685 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,724 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 145 of #Syngap10 - July 11, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    22 mins
  • 1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144

    1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144
    Jul 3 2024
    📝Full show notes: https://syngap.fund/n144 CENSUS = 1,454 https://curesyngap1.org/how-many-people-have-syngap1-census/ STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024 FUNDRAISING Missense Account of the Fund https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYE Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Emmy 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/ PHARMA https://www.longboardpharma.com/ http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy CIRM Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497 Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia HOPE - Caring for your SYNGAPian Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698 Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/ Heat is not good - We need a blog here… Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/ CLINICAL NETWORK / NHS UPDATE COLORADO webinar next week! https://syngap.fund/Abbott July 11, 2024 at 9 Pacific. CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ CALENDAR MANAGEMENT Rare Across America is 34 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 156 days away & 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 SHOUTOUTS JACKIE NEW ED OF NCSA https://www.ncsautism.org/blog/ed Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey… CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) 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) NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,040 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,660 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,659 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 144 of #Syngap10 - July 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    23 mins
  • Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143

    Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143
    Jun 19 2024

    📝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.

    NHS UPDATE

    Colorado should start seeing patients in August! Don’t cancel CHOP appointments, some people have no choice.

    CHATS WITH INDUSTRY

    Prevalence:

    They are easily missed. The math is clear. Lots of data. 1% of ID = 35k+

    1/100k at 3.6m in 2023 = 36 a year, minimum with PTV.

    5/100k = 180. A YEAR.

    Caren is 65.

    36 x 65 = 2,340 PTVs vs 400 SRF knows about)

    https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/

    CALENDAR MANAGEMENT

    Rare Across America is 28 days away, register now:

    https://everylifefoundation.org/rare-advocates/rare-across-america/

    Conference is 170 days away & 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

    CB Blood Donation accelerates Science!

    STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

    Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

    HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

    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)

    SHOUTOUTS

    - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/

    - We need a Pavel award.

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,030 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 10,421 Twitter https://twitter.com/cureSYNGAP1

    - 3,652 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 143 of #Syngap10 - June 18, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    20 mins