CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) (@cureSYNGAP1) / X

CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)

6,021 posts

CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)

@cureSYNGAP1

#SYNGAP1 🧬 = 🧠NDD DEE causing #Epilepsy #Autism #ID #Sleep #GI. Incidence = 6️⃣.1️⃣/💯k ICD10 syngap.fund/F78A1 syngap.fund/10 🎙

USA-UK-EU-LatAm-Aus

cureSYNGAP1.org

Joined December 2018

Pinned
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Feb 12, 2025
🙏🏼@StanMedMag for this article about SRF funded work in @julietkknowles lab featuring our founders - Ashley & @JMGraglia - and son Tony. Special thanks to our donors for making this work possible. #SYNGAP1 #Epilepsy #RareDisease #PatientAdvocacy #HOPE
How neural insulation can amplify epileptic seizure damage
From stanmed.stanford.edu
2.8K
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Nov 30, 2021
JOIN US ON FRIDAY! 3️⃣rd ANNUAL SYNAPSE 🧠 VIRTUAL ROUNDTABLE! 7️⃣ Speakers all discussing how they work across our genes. #SYNGAP1 #STXBP1 & #SHANK3 REGISTER: Syngap.Fund/RT3 Hosted by @cureSYNGAP1, @curestxbp1 & @CureSHANK #SynapseRT
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Jan 25, 2023
Read & share this @Newsweek story profiling SRF, our founders (@SYNGAP1mom & @JMGraglia) and Tony's diagnostic journey. newsweek.com/my-son-syngap1… FYI @StanfordChild @IDreamofGenes @Invitae @Labcorp (MNG)
"Our son has a rare genetic disorder. Life is risky for us"
From newsweek.com
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CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Feb 7, 2023
$25M gift to ⁦@PennMedicine⁩ @ChildrensPhila ENDD Center: therapies for NDDs starting w/ #SYNGAP1🧬 & #STXBP1. SRF is excited to keep collaborating w/⁦incredible @Prosser_Lab⁩ ⁦⁦@IngoHelbig⁩ ⁦@EAHellerPhD⁩ & ⁦@curestxbp1⁩ pennmedicine.org/news/news-rele…
13K
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Sep 14, 2021
.@Rarebasepbc launches FUNCTION 🧠 💊🔬 #neuroscience #drugdiscovery w/ 1️⃣5️⃣ #raredisease orgs @cureSYNGAP1 is proud to be an anchor ⚓️ partner alongside outstanding groups like @Foxg1Research @curestxbp1 @ADNPkids @CMTNeuropathy & #Hope4Harper! prn.to/3EfZFBI #SYNGAP1
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Jan 10, 2022
Congratulations to @AcadiaPharma & @StokeTx for announcing their program on #SYNGAP1! Our community is strong, organized & ready to partner for trials with 155+ US patients already enrolled in the @ciitizen patient data program. Let's @cureSYNGAP1.
Stoke Therapeutics
@StokeTx
Jan 10, 2022
Today @AcadiaPharma and Stoke announced a collaboration to pursue multiple RNA-based treatments for severe and rare genetic neurodevelopmental diseases. Read the release for more info: investor.stoketherapeutics.com/news-releases/… #raredisease #JPM22
00:00
investor.stoketherapeutics.com
Acadia Pharmaceuticals and Stoke Therapeutics Announce Collaboration to Pursue Multiple RNA-based...
– Establishes co-development and co-commercialization agreement for Stoke’s SYNGAP1 preclinical program – Acadia receives exclusive worldwide licenses for two additional preclinical programs: Rett...
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Oct 29, 2022
Great story about our #SYNGAP1 dads - @UFDTech & @phalliburton - who drove over 57 hours, livestreamed the cross-country trip & raised $156,000+ for @cureSYNGAP1 and our work with @rarebasepbc! Thx @iamreneeonque/@CNBCMakeIt for the support. cnb.cx/3NfUbvH
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
May 28, 2023
.@DarcelTribune's @chicagotribune piece on Hayden's #SYNGAP1 🧬 journey emphasizes impressive family support & highlights how different cultures respond to rare 🧠diseases. It's critical to have a #Chinese-American family sharing their story. 🙏🏻 Minnie!
The absence of a gene protein makes 5-year-old Hayden Cheng a medical rarity. Her mom shares their...
From chicagotribune.com
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CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Apr 10, 2023
The @KCStar knows what they are doing, this great SYNGAP1 press made it to the front page today. Just in time for the @gatlinburgcon!
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Apr 4, 2023
"Only 1,215 people have this rare disease." The Kansas City Star featured the Foster family & daughter Hattie, who has #SYNGAP1. Spread the word so we can find a cure for Hattie and all 1,215 in the world! kansascity.com/news/local/art…
9.4K
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Apr 27, 2022
Praxis Precision Medicines announces plans to declare antisense oligonucleotide (#ASO) candidate PRAX-090 for #SYNGAP1 in 2023!
globenewswire.com
Praxis Precision Medicines Showcases Largest Targeted Epilepsy Portfolio in Industry at 2022...
Live event in New York City and webcast to start at 8:30 a.m. ET...
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Jun 8, 2021
Genetic 🧬 Neuro 🧠 Orgs we 💜 and learn from: 1. @curedravet 2. @cureangelman 3. @CDKL5USA 4. @tscalliance 5. @FoundationUSP7 6. @Foxg1Research 7. @Projectalive 8. @SLC6A1_Mom 9. @curestxbp1 10. @TESSResearch 11. @combined_brain Love @EBResearch too. Who'd we miss?
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Mar 16, 2023
Kudos to @IDreamofGenes for this tremendous work covering 6 genes. SYNGAP1 STXBP1 KCNQ2 FOXG1 SCN2A SCN8A Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness medrxiv.org/content/10.110…
3.2K
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
May 10, 2022
🚨#SYNGAP1 🧬PREPRINT ALERT 🚨 Congrats 🎉 to @MarcellaBirtele, @DossoAshley...Marcelo Coba, @GiorgiaQuadrato of @KeckMedUSC who discovered...🧵👇🏽 We support work in Coba's lab, collaborated for patient samples & are acknowledged. 🙏🏼 to our families.
Giorgia Quadrato
@GiorgiaQuadrato
May 10, 2022
📢 Excited and proud to share our first preprint! We discovered a novel function for the autism-associated gene SYNGAP1 at the early stages of human cortical neurogenesis. Work co-lead by the very talented @MarcellaBirtele postdoc and @DossoAshley PhD candidate in our lab🧵 1/8
biorxiv.org
The autism-associated gene SYNGAP1 regulates human cortical neurogenesis
Autism spectrum disorder (ASD) is a genetically heterogeneous disorder linked with rare, inherited and de novo mutations occurring in two main functional gene categories: gene expression regulation...
CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3)
@cureSYNGAP1
Jul 19, 2022
PAPER ALERT 🚨 @Prosser_Lab🫀🧠 with @lab_davidson & @EAHellerPhD of @Penn / @PennMedicine have identified #PTBP2 for #RNA splicing and it's impact on 🧬 #SYNGAP1 as well as #STXBP1 #DLG4 & #GRIN1. Tremendous work. Now let's validate this in🐁 & then patients... Keep going.
Ben Prosser
@Prosser_Lab
Jul 19, 2022
Excited to drop our first preprint on RNA biology and therapeutics in the brain! With spectacular colleagues in @lab_davidson and @EAHellerPhD, and with implications for @cureSYNGAP1 and other neurodevelopmental disorders: biorxiv.org/content/10.110… 🧵 1/4