• Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

  • Jul 27 2024
  • Length: 27 mins
  • Podcast

Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

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  • 📝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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