Endure_Rare 💙💚💜🧬🏄🏻©️

SYNGAP Dad, Clinical Lab Professional & Triathlete 140.6 living life with grace and peace knowing "someone's worst day is someone's best" #Syngap1 @cureSynGAP1

[Mike Graglia 🌻 @JMGraglia]

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

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

How many people have SYNGAP1?
3Q24 #SYNGAPcensus = 🌏1,497
Details: https://t.co/IbksOcvdHe
🇺🇸425
🇬🇧128
🇩🇪122
🇨🇳110
🇫🇷99
🇪🇸53
🇮🇹52
🇳🇱50
🇦🇺43
🇨🇦🇵🇱42
🇷🇺32
🇧🇷31
🇰🇷21
🇦🇷16
🇨🇭15
🇳🇴🇸🇪13
🇩🇰🇨🇴12
🇧🇪🇮🇪11
🇵🇹🇯🇵🇨🇱🇮🇱9
🇹🇷8
🇸🇮7
🇫🇮🇮🇳6
🇷🇸🇲🇽5
to be continued...

#SYNGAP1

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

Visit https://t.co/ziBb3HWSR0 to learn more!

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

#SYNGAP1 Researchers! Apply for this grant before Sept. 20 to help us find a treatment for SYNGAP1-Related Disorders! #SRD

Info - https://t.co/7cLXMioLp1

#Autism #RareDisease #SynGAPResearchFund #MDBR #UPennODC #Research #FindACure

#MDBRide4Rare

[hans p schlecht @hanspschlecht]

New reading for the #syngap community! Hematopoietic stem cell gene therapy for the treatment of SYNGAP1‐related non‐specific intellectual disability - Anderson - 2024 - The Journal of Gene Medicine - Wiley Online Library ⁦@cureSYNGAP1⁩ https://t.co/rwdN9HtYeM

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

SRF | Syngap1 Missense Analysis, Research & Therapeutics (SMART) Project begins with the generous donation & fundraising efforts of the Nordmoe-Goretski Families to drive missense research.
Press release👇
https://t.co/kFiqVdIWH5
SRF Missense Fund👇
https://t.co/Lg6vNXAGXK

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

@cureSYNGAP1 SMART Project starts here, Syngap1 Missense Analysis, Research and Therapeutics, so let's get SMART.

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

“I want to do everything we can now rather than wish we had 10 years earlier. I want to see changes in my lifetime!” says Dennis Nordmoe, grandfather of #SYNGAP1 Warrior Olivia.
Read the press release - https://t.co/h4b0XdPlJD

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

Let's get SMART about missense. This is the beginning of the SRF SMART Project, which stands for:
Syngap1 Missense Analysis, Research and Therapeutics.

[Rare Diseases @CheckOrphan]

The Syngap Research Fund launches the SYNGAP1 missense account with Nordmoe family donation - please check the link for more https://t.co/bVfP1WMAbx @cureSYNGAP1 #SYNGAP1 #SRD #Autism #RareDiseases

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

Mike @JMGraglia & Kathryn our CEO & CSO are in #SanDiego for #BIO2024 and had a chance to have dinner with one of the oldest families in our community… Monica & Aaron Harding @Endure_Rare. #SYNGAP1

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

Has this account helped you stay up to date with #SYNGAP1 and #RareDisease Research? Meet our patients? Be inspired about progress?

Help us get to and past 10,000 followers, RETWEET this and be sure to FOLLOW @cureSYNGAP1

#StrongerTogether 🔟K

[Clement Chow @ClementYChow]

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 @cureSYNGAP1. #excite https://t.co/MJDZTDFsdQ

[Mike Graglia 🌻 @JMGraglia]

#Sprint4SynGAP in Fairfield for #TeamKaia yesterday was awesome. Three dads and lots of @cureSYNGAP1 merch in this shot.

We have $10k let to hit our goal, you can still bring us closer to a cure for #SYNGAP1, donate now!
https://t.co/evG6Zn6T17

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

"Whatever brings him joy, that brings me joy."
"Advice I would give Syngap siblings is not to be afraid of your situation. Share it with the people around you and all of your friends."
Michaela & Natalie Harding

Details - https://t.co/rfQy4DpBLn

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

How many people have SYNGAP1?
1Q24 = 🌏1,400
https://t.co/IbksOcvdHe
🇺🇸401
🇬🇧125
🇩🇪114
🇨🇳99
🇫🇷95
🇳🇱50
🇮🇹48
🇪🇸47
🇨🇦40
🇦🇺38
🇵🇱35
🇷🇺30
🇧🇷28
🇰🇷21
🇦🇷🇨🇭14
🇳🇴🇸🇪13
🇩🇰12
🇧🇪11
🇨🇴10
🇵🇹🇯🇵9
🇮🇪🇨🇱🇮🇱8
🇹🇷🇸🇮7
🇫🇮6
🇲🇽🇷🇸5
🇪🇪🇧🇾🇦🇹🇮🇳🇪🇬🇺🇦🇨🇿4
🇩🇴🇭🇺🇬🇷🇦🇪🇷🇴3
🇭🇰🇸🇷🇲🇦🇲🇾🇧🇦🇸🇰🇸🇬2
🇹🇹🇩🇿🇻🇪🇭🇷🇽🇰🇸🇦🇲🇨🇶🇦🇳🇿🇦🇲🇮🇷🇵🇪🇮🇸1

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

Join us on 4/13/24 for a special movie at Mission Naz - 8AM followed by the premiere at 9AM PDT

Not in San Diego? Live-stream - https://t.co/VlCwAEmhy2

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

"...connecting is everything, and we really want to be able to support each other and make the quality of life for the children better as well as for the families!" - Aaron Harding (@Endure_Rare), Jaxon's father

In-person or live-stream at https://t.co/IVky5xTLKV
#SYNGAP1

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

Our guest - SRF's lead advocate, Jackie Kancir, talks about advocating for changes to education & health systems, behavioral challenges with #SYNGAP1, & Jadyne's optimism! https://t.co/vFvDZIGnjx

#SYNGAP1StoriesJadyne #Epilepsy 💜 #Autism 💙 #IntellectualDisability 💚 #Advocacy

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

Great article.

““It puts the nail in the coffin of treating RAS abnormalities in SYNGAP disorder,” Rumbaugh says. Instead, boosting levels of SYNGAP protein is likely a better goal.”

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

One more for #RareDiseaseDay2024 - we are committed to tackling the rare and ultra-rare neurological disorders @StJudeResearch from basic science to the bedside using precision medicine approaches. 🧠 🧬 🧠 🧬

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

"healthcare disparities" is real. Out of 385 U.S. patients, the Peterson Family is one of 12 black families diagnosed with Syngap1-related disorder, that is 3%.
Change is needed!

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

@qcitymetro article on the Peterson Family's struggle to find a Dx. "Keep fighting and advocating for your kid...." Need help? Contact us [email protected]. Finding more patients of all ethnicities will help us cure #SYNGAP1! #Awareness #RareDiseaseDay

https://t.co/7PzdLS2Igu