#syngap1 search results
Paper alert🚨 Here we study for the 1️⃣st time the #adult evolution and phenotype of #SYNGAP1-DEE🔍 This is an international effort leaded by @DrDaniAndrade and her group🧬 Published in @GreenJournal➡️ ng.neurology.org/content/9/6/e2…
🚨 This is not an election related post 🚨 Today is #Syngap1 awareness day. SYNGAP1 is a rare genetic disorder which a few hundred people in the UK suffer from - although it could be more - and this includes my own granddaughter.
Look forward to @Syngap1Fnd 1st Industry Round Table on #drug development for #SYNGAP1 & related #neurological #disorders. Will discuss @Axonis_US first-in-class oral #KCC2 potentiator drugs for treating disorders of excitation/inhibition imbalance in CNS lnkd.in/gRyGrqyQ
The Syngap Research Fund launches the SYNGAP1 missense account with Nordmoe family donation - please check the link for more rb.gy/iqncuh @cureSYNGAP1 #SYNGAP1 #SRD #Autism #RareDiseases
Excited to share this publication outlining the strategy and progress of @curesyngap1. Grateful to my co-authors Aaron Harding & Kathryn Helde. Also thankful for Rodney Samaco and the editors @SageJournals for this important #RareDisease series. #PatientVoice #SYNGAP1 #Roadmap
SRF has published its first paper! We chronicle the last 5 years of advancements in specific treatments for SYNGAP1-related disorder and how #SynGAPResearchFund has helped accelerate the route to meaningful treatments for our loved ones living with #SYNGAP1.
Yes @cureSYNGAP1 is amazing. Bc of the diligence of volunteers & vision from @JMGraglia back in 2020 to implement the #SYNGAP1 natural history study w/@ciitizen, I was able to share my child's entire medical history at a simple link with a specialty clinic at @ChildrensColo!🧵1/2
Celia nació con una mutación en el gen #SYNGAP1, un trastorno genético poco frecuente que afecta al neurodesarrollo. Su madre, junto a otras familias de pacientes, han impulsado el proyecto #EURAS para investigar las #rasopatias #EnfermedadesRaras elpais.com/salud-y-bienes… @el_pais
elpais.com
En busca de respuestas a la extraña enfermedad de Celia
Un proyecto impulsado por familias de pacientes logra apoyo de la UE para estudiar las rasopatías, unos trastornos genéticos poco frecuentes que afectan al neurodesarrollo
Hemos participado en la III Carrera Solidaria SYNGAP1 España en Majadahonda! Una iniciativa en favor de la Fundación Tomás Pascual y Pilar Gómez-Cuétara. #SYNGAP1 #CarreraSolidaria
Flew in this AM for @cureSYNGAP1 scientific conference. Caught the second half of this overview from @julietkknowles on work on Phenylbutyrate and Nortriptyline repurposing. Both indicate improvements in seizures and socialization. Drug repurposing trials for #SYNGAP1 are here!
Today is #SYNGAP1 awareness day 💜 Symptoms vary between individuals but may include: intellectual disability, #epilepsy, speech delay, autism, as well as sleep and behavioral disorders ‼️ Syngapians love water! Join the #Splash4Syngap campain & help them raising awareness 💜
Thank you @mjszabo & @latimes for this article about my friend @JustinWestMd, his son Andrew and @CIRMnews. It is time to be all in on #RareDisease such as #KCNT1, #SYNGAP1 & so many others. latimes.com/socal/daily-pi…
This is a long one but a great update! Check it out. youtu.be/9xO1TcO1Eus?si… #CureSYNGAP1 #SYNGAP1
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YouTube
CURE SYNGAP1, 501(c)(3) fka SynGAP Research Fund
Listen to the latest #SYNGAP10 episode with @jmgraglia! What is #SynGAPResearchFund doing to help SYNGAP1 families this week? Subscribe to the #podcast at youtu.be/9xO1TcO1Eus #SYNGAP1
youtube.com
YouTube
CURE SYNGAP1, 501(c)(3) fka SynGAP Research Fund
Looking forward to getting into LAX early to catch up with the #SYNGAP1 Conference by @cureSYNGAP1 and the #Dravet Roundtable by @curedravet both on December 5th just before #AES2024 This "rare" start to AES has become a tradition! 🦓 Who else is coming? 💚
Yet another positive story from a parent at Neurocytonix 😊🇲🇽 We need Neurocytotron accessible to all! Please like and share our posts to create awareness and give other parents hope 🙏 @SecKennedy @RupertLowe10 @ABridgen #tobywoodier #neurocytonix #SYNGAP1 #nonverbal
Very grateful to @AmEpilepsySoc, @cureSYNGAP1, and #PERF for their support! We will delineate the longitudinal history of #SYNGAP1 to facilitate precision therapies! @IngoHelbig @JulieXXian @CHOP_Research @CHOPDBHi @PennNeurology
Congratulations are in order! Please join us in applauding 25 early career scientists who have received a combined $1.19M in grants and fellowships from AES and our partners! #epilepsy #epilepsyresearch aesnet.org/research-fundi…
Day 28 🇲🇽. The last day 😭 It really has gone so fast! Follow Toby's journey to see what other improvements we see once we return home 🇬🇧 @realDonaldTrump @SecKennedy @RupertLowe10 @ABridgen #tobywoodier #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
#Sprint4Syngap is almost here! But that's not the only way to raise funds. Check out the latest updates in cureSYNGAP1.org/NL51! #CureSYNGAP1 #SYNGAP1 #Connection #Community #Collaboration #Volunteer
We're home! 😊🇬🇧 Exhausted, but grateful 🙏 Thank you for all your lovely comments and messages 😘 Keep following to see Toby's progress 😊 #tobywoodier #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
#RareDisease @ITAKOM_CONF: 'There’s a huge amount of stuff in our conference relevant to people with a learning disability, and / or rare syndromes like #fragilex #syngap1 #RettSyndrome and #WilliamsSyndrome Let’s sta… , see more tweetedtimes.com/search/%23Rare…
The beginning of our trip 13.03.26 😊🇲🇽 The shuttle bus driver asked where we were going, and when we told him all the other passengers listened too.. And followed us! 😊 We hope they have seen his results 👍🇲🇽 #tobywoodier #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
The finish line is in sight! You have one week to hit your goal and get auto-entered to win the Rifton Adaptive Tricycle. Don’t leave it to the last minute—boost your fundraising today and secure your spot in the giveaway! cureSYNGAP1.org/Sprint26 💙💚💜 #SYNGAP1 #CureSYNGAP1
We're home! 😊🇬🇧 Exhausted, but grateful 🙏 Thank you for all your lovely comments and messages 😘 Keep following to see Toby's progress 😊 #tobywoodier #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
Day 28 🇲🇽. The last day 😭 It really has gone so fast! Follow Toby's journey to see what other improvements we see once we return home 🇬🇧 @realDonaldTrump @SecKennedy @RupertLowe10 @ABridgen #tobywoodier #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
Yet another positive story from a parent at Neurocytonix 😊🇲🇽 We need Neurocytotron accessible to all! Please like and share our posts to create awareness and give other parents hope 🙏 @SecKennedy @RupertLowe10 @ABridgen #tobywoodier #neurocytonix #SYNGAP1 #nonverbal
#Sprint4Syngap is almost here! But that's not the only way to raise funds. Check out the latest updates in cureSYNGAP1.org/NL51! #CureSYNGAP1 #SYNGAP1 #Connection #Community #Collaboration #Volunteer
Don't Just Watch the Sprint—BE the Sprint! 👟 With only 2 weeks left, we’re picking up the pace. Invite your neighbors, rally your team, and let’s fund the future of SYNGAP research! cureSYNGAP1.org/Sprint26 💙💚💜 #SYNGAP1 #Sprint4Syngap #CureSYNGAP1
Haircut time 😊💙 And how handsome does he look in his Mexico football kit 😍⚽️🇲🇽 #haircut #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
3 new words (so far) during his second session at Neurocytonix 🇲🇽 2026 Help us make Neurocytotron accessible to all by signing our petition 🙏 @SecKennedy @RupertLowe10 @ABridgen #mexico🇲🇽 #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
When your son wants to get on your shoulders to have a rave and you forget he drools alot 🙈🤣🤣 #pov #neurocytonix #SYNGAP1 #nonverbal #nonverbal
"Well done Toby for saying Mummy" 👏 How cute is this video message that Toby's best friend Oliver sent 😍💙 #tobywoodier #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron #specialneeds
Another first! 😍 On day 14 🇲🇽 A little thing for most, but a big achievement for Toby 💪💙 Please consider signing Toby's petition in our bio 🙏 @SecKennedy @RupertLowe10 @ABridgen #swimming #neurocytonix #SYNGAP1 #nonverbal #Neurocytotron
#SYNGAP1 is a rare genetic disease caused by mutations in the SYNGAP gene, leading to reduced protein levels. With ~10,000 patients in the U.S., our ASO candidates aims to upregulate gene expression to restore protein levels & improve symptoms. Learn more: bit.ly/4avbMNj
New #SYNGAP1 mutation sheds light on #autism & intellectual disability. Single gene changes, big impact. Genetic testing is key. thelifesciencefeed.com/pediatrics/aut… LSF-5258683442
thelifesciencefeed.com
Article not found | The Life Science Feed | Trusted medical news for healthcare professionals
Curated life-science articles.
4 Weeks. Infinite Impact. ⏳ Think you missed the start? Think again! There is still time to lace up, sign up, and start your sprint toward a SYNGAP1 cure. Join us today! 👟 🏃 cureSYNGAP1.org/Sprint26 💙💚💜 #SYNGAP1 #CureSYNGAP1 #Sprint4Syngap #Sprint26
Clinical Trials are coming...ARE YOU PREPARED? Read this blog to understand what clinical trials are, types of treatments that may be evaluated, and how to prepare — emotionally, logistically, and medically — for upcoming #SYNGAP1 clinical trials." Read cureSYNGAP1.org/Prepare
Welcome Michael MacLean to our Board of Directors! With over 35 years of experience in financial & operational leadership, Michael brings valuable expertise as we advance our regRNA-based #SYNGAP1 investigational therapy towards the clinic. Read more: bit.ly/47hwgap
This month, we joined the SYNGAP1 Family Day events in France & Spain, engaging with the #SYNGAP1 community, with our CMO, Yuri Maricich, MD, sharing insights on our #regRNA therapy. Grateful to @CureSYNGAP1 and the broader community for the continued collaboration and dialogue!
Day 5 🇲🇽 Toby is still tired after his sessions, but this was the same last year for the first week or so, so we are not worried. Follow Toby's journey and sign our petition to get Neurocytotron accessible to all 🙏 #tobywoodier #neurocytonix #SYNGAP1 #nonverbal
Don’t let your team cross the finish line empty-handed! 🥇🚩 We are packing boxes next week, so please let us know by March 29th if you still need medals for your team! Please email Jess at [email protected] 🏁 #SYNGAP1 #CureSYNGAP1 #Sprint4Syngap
Paper alert🚨 Here we study for the 1️⃣st time the #adult evolution and phenotype of #SYNGAP1-DEE🔍 This is an international effort leaded by @DrDaniAndrade and her group🧬 Published in @GreenJournal➡️ ng.neurology.org/content/9/6/e2…
Look forward to @Syngap1Fnd 1st Industry Round Table on #drug development for #SYNGAP1 & related #neurological #disorders. Will discuss @Axonis_US first-in-class oral #KCC2 potentiator drugs for treating disorders of excitation/inhibition imbalance in CNS lnkd.in/gRyGrqyQ
Sarah Webster, SYNGAP1 parent is sharing her story of raising Gracie in Outback Australia. #GETA2024 #Syngap1 #raredisease #DEE
The Syngap Research Fund launches the SYNGAP1 missense account with Nordmoe family donation - please check the link for more rb.gy/iqncuh @cureSYNGAP1 #SYNGAP1 #SRD #Autism #RareDiseases
On the road again to DC to #Advocate on behalf of all #SYNGAP1 families! Thank you to Virginie and Paulina for making our voices heard! You can help use throughout the year - see how at cureSYNGAP1.org/RDD26 Together, we will #CureSYNGAP1!!💙 💜 💚 @rarediseaseday
I gave myself a whacky hair cut to join you @UFDTech in spirit during the #cannonballforthecure raising funds for #syngap1 @cureSYNGAP1
Looking forward to getting into LAX early to catch up with the #SYNGAP1 Conference by @cureSYNGAP1 and the #Dravet Roundtable by @curedravet both on December 5th just before #AES2024 This "rare" start to AES has become a tradition! 🦓 Who else is coming? 💚
Today is #SYNGAP1 awareness day 💜 Symptoms vary between individuals but may include: intellectual disability, #epilepsy, speech delay, autism, as well as sleep and behavioral disorders ‼️ Syngapians love water! Join the #Splash4Syngap campain & help them raising awareness 💜
Flew in this AM for @cureSYNGAP1 scientific conference. Caught the second half of this overview from @julietkknowles on work on Phenylbutyrate and Nortriptyline repurposing. Both indicate improvements in seizures and socialization. Drug repurposing trials for #SYNGAP1 are here!
Hemos participado en la III Carrera Solidaria SYNGAP1 España en Majadahonda! Una iniciativa en favor de la Fundación Tomás Pascual y Pilar Gómez-Cuétara. #SYNGAP1 #CarreraSolidaria
HOY 29 de febrero #DíaMundialDeLasEnfermedadesRaras. Un día para visibilizar y crear conciencia sobre las +10.000 #EnfermedadesRaras que, por separado, afectan a “pocos” por dificultades en diagnóstico y tratamiento pero en su conjunto a +300.000.000 en el 🌍 mi hija con #syngap1
Our friends @cureSYNGAP1 are hosting a webinar on May 11, 2023, titled 'Catatonia in Neurodevelopmental Disorders.' You can sign up for this program here: syngap.fund/Smith #SYNGAP1 #SYNGAP1Syndrome
Had a great time catching up and sharing our work on #SYNGAP1 with friends and colleagues at #CNSAM! @ChildNeuroSoc @CHOP_Research @CHOPDBHi @ChildrensPhila @cureSYNGAP1 @IngoHelbig @JulieXXian
▶️ Il 23/2 torna #AIFIChannel! Parleremo della malattia genetica #Syngap1 con l'Ass Famiglie Syngap1 Italia e con il neuropsichiatria Tommaso Lo Barco, insieme al @GisPediatrica e al #GISFisioterapiaNeurologica. Ti aspettiamo alle 21 su AIFI Channel! 🔔aifi.net/aifi-channel-s…
Tomorrow is the last day to donate to Cure SYNGAP1 through the CFC‼️ Thank you to everyone who already has supported Cure SYNGAP1's mission, your support helps move us closer to the day we can #CureSYNGAP1 ⭐ Send any final donations here: cureSYNGAP1.org/CFC #SYNGAP1
We’re supporting #Syngap1AwarenessDay and raising awareness for those living with #SYNGAP1 epilepsy. Learn more about SYNGAP1, access resources, and support tools by connecting with advocacy organizations like @cureSYNGAP1, @Syngap1Fnd, @SyngapNetwork and more.
Incredibly exciting day at @PraxisMedicines. Wonderful to see #SYNGAP1 on the list of their 7️⃣ #DEE programs. Just exceptional. This company is one to watch. I'm speaking at 11:30 ET on behalf of @cureSYNGAP1. Listen in... edge.media-server.com/mmc/p/t3d3g9sx/
Once we learned that @IngoHelbig , @JillianLMcKee and ENGIN team at @ChildrensPhila would be conducting the #SYNGAP1 Natural History Study we wanted Amelia to participate. We understand the importance of minorities representation on every aspect of our disease. @cureSYNGAP1
Episode 150! Shoutouts to @PraxisMedicines, @ufdtech, @EdinburghUni, Dr. Postilla @UniTurku, Tom Frazier @JohnCarrollU and many more. Check it out. #SYNGAP1
Listen to the latest #SYNGAP10 episode with @jmgraglia! What is #SynGAPResearchFund doing to help SYNGAP1 families this week? Subscribe to the #podcast at Syngap.fund/10 youtu.be/v0GQ6nrdGi4 #SYNGAP1
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CURE SYNGAP1, 501(c)(3) fka SynGAP Research Fund
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