#SongOfTheDay Gaslighter - Dixie Chicks music.apple.com/us/album/gasli…

How can we thank you? ~ Dear Families and Supporters of SynGAP Research Fund, From families and friends to volunteers, supporters and donors, we know our SYNGAP1 community is full of incredible people making an impact on those living with SYNGAP1. SynGAP Research Fund is there

The day before #AES2023, CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) had a focused conference that was great. I wrote my main learnings: - cool and scary new biology - now: drug repurposing - tomorrow: cures - the challenge of missense, could multiply patient # by 3-fold! - a real team draccon.com/dracaena-repor…

4Q23 #SYNGAPcensus = 🌏1,339 Details: Syngap.Fund/Census 🇺🇸385 🇬🇧122 🇩🇪112 🇫🇷94 🇨🇳93 🇳🇱49 🇪🇸🇮🇹41 🇨🇦39 🇦🇺37 🇵🇱33 🇷🇺🇧🇷26 🇰🇷21 🇦🇷14 🇳🇴🇸🇪13 🇨🇭🇩🇰12 🇧🇪11 🇨🇴10 🇵🇹9 🇮🇪🇨🇱8 🇹🇷🇮🇱🇯🇵🇸🇮7 🇫🇮6 🇲🇽🇷🇸5 🇪🇪🇧🇾🇦🇹🇮🇳🇪🇬🇺🇦4 🇨🇿🇩🇴🇭🇺🇬🇷🇦🇪3 🇭🇰🇷🇴🇸🇷🇲🇦🇲🇾🇧🇦🇸🇰🇸🇬2 🇹🇹🇩🇿🇻🇪🇭🇷🇽🇰🇸🇦🇲🇨🇶🇦🇳🇿🇦🇲🇮🇷1 If we missed you, let us

We need digital biomarkers for #SYNGAP1 trials. Drug repurposing is happening now and genetic therapies are in development. These tools will improve #clincialtrials for #ultrarare #raredisease. Thank you Aparito Health for this collaboration! cc Fundación Síndrome de Dravet Mike Graglia 🌻

Great article about a child in Spain getting a SYNGAP1 diagnosis after 17 years. Her family and others have launched the EURAS project to study RASopathies, which is now backed by the EU. english.elpais.com/health/2024-02… Katrien EL PAÍS

Our friends started a coffee company! I am going into my day with my first Rare Brew Coffee . Excellent! Use the code SRF10 for 10% discount and support CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) while drinking very smooth and fresh coffee!

Congratulations to Dr. Wiltrout, Elli Brimble & Epilepsy Genetics Program for this analysis of Ciitizen data collected with & supported by SRF! Comprehensive phenotypes of patients with #SYNGAP1-related disorder reveals high rates of #epilepsy & #autism pubmed.ncbi.nlm.nih.gov/38470175/

Let's not wait and see; let's offer Exome Sequencing today! #RareDisease #GeneticTesting #CerebralPalsy #RareEpilepsies

#WarriorWednesday #SYNGAP1 Hope (4 years old) from Redding, California “Her favorite thing though, is riding in the car.” Read her story & see more photos at curesyngap1.org/syngap-warrior… #SRFWW no.200 #SYNGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #Neurology #Genetics

What a sweet little lady 🥰

Excited to welcome Haley Tokars to the lab! She’s a neuroscience PhD student and will work on drug therapies for #SYNGAP1! She’ll be invaluable to our new partnership with CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3). #excite chowlab.org/people

#WarriorWednesday 🧬 #SYNGAP1 Olivia (6 years old) from 📍Michigan After receiving the Dx, "Because we had an answer, I was able to connect with the whole SYNGAP1 community." Read her story! curesyngap1.org/syngap-warrior… #SRFWW no.204 #SYNGAP #EpilepsyAwareness #AutismAwareness

#WarriorWednesday Updated Story! We met Saydee from 📍Wisconsin in late 2021 - she's now 6 years old 🧬 #SYNGAP1 "She wakes up every day with a smile and a positive attitude." Read her updated and original stories - curesyngap1.org/syngap-warrior… #SRFWW no. 128 #SYNGAP

How many people have SYNGAP1? 2Q24 #SYNGAPcensus = 🌏1,454 Details: Syngap.Fund/Census 🇺🇸417 🇬🇧126 🇩🇪120 🇨🇳103 🇫🇷99 🇪🇸52 🇮🇹51 🇳🇱50 🇨🇦42 🇦🇺🇵🇱39 🇷🇺31 🇧🇷30 🇰🇷21 🇦🇷15 🇨🇭14 🇳🇴🇸🇪13 🇩🇰12 🇧🇪🇨🇴11 🇵🇹🇯🇵9 🇮🇪🇨🇱🇮🇱8 🇹🇷🇸🇮7 🇫🇮6 🇲🇽🇷🇸5 🇪🇪🇧🇾🇦🇹🇮🇳🇪🇬🇺🇦🇨🇿4 🇩🇴🇭🇺🇬🇷🇦🇪🇷🇴3 to be continued...

If someone does not respect your time, they do not respect you.

🎤💻 New SYNGAP1 #SRFWebinar with Megan Abbott, MD 🧬 SRF | SYNGAP1 Natural History Study/Multidisciplinary clinic at Children's Hospital Colorado 🗓 Wednesday, July 17th 🕘 12pm PT 🕔 3pm ET 👉 Syngap.Fund/Abbott Children's Hospital Colorado #SYNGAP1 #RareDiseaseResearch #SynGAP

We have two exciting opportunities to attend the SYNGAP1 Conference this December in Los Angeles, completely free, while directly contributing to critical research efforts! Option 1: Raise $1,000 for SRF and receive ONE ADULT conference registration free! Option 2: Sponsor the

#S10e147 of #SYNGAP10 #Podcast is up! Shoutouts: Beacon Biosignals & U.S. FDA Jackie Kancir NCSA Laurie Bailey UCB News Colin Farrell Global Genes @VanderhaeghenP2 VIB Syngap Research Fund Australia COMBINEDBrain #SYNGAP1conf in 115 days! Join us! curesyngap1.org/events/confere…

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/GiXHGvrohpQ #SYNGAP1