Sandy Smith

#RareDisease #SYNGAP1 auntie. Working for a cure with @cureSyngap1. Healthcare IT professional. Micah 6:8 💜#epilepsy💙#autism💚#id

[Mike Graglia 🌻 @JMGraglia]

Congrats to @curestxbp1 & @charleneson for this exciting pre-clinical news from @CapsidaBio re CAP-002, a "first-in-class next-generation intravenous (IV)-administered #genetherapy" for #STXBP1. Trials to start in "first half of 2025."

#SYNGAP1 next❓

https://t.co/Asq1o8JChx

[Mike Graglia 🌻 @JMGraglia]

This is going to be exceptional. Don’t miss it.

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

Listen to the latest #SYNGAP10 episode with @jmgraglia! What is #SynGAPResearchFund doing to help SYNGAP1 families this week? Subscribe to the #podcast at https://t.co/dLfZliSFuW https://t.co/bJGyiK9VYY #SYNGAP1

[Mike Graglia 🌻 @JMGraglia]

So well written. Read this one.
#SYNGAP1

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

SRF and the #SYNGAP1 community is lucky to have Dr. McKee working on our disease at @ChildrensPhila with the #ENDD team. This is a complicated disease and we need world class clinicians to help us take cover of these patients. She fits the bill!

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

Listen to the latest #SYNGAP10 episode with @jmgraglia! What is #SynGAPResearchFund doing to help SYNGAP1 families this week? Subscribe to the #podcast at https://t.co/dLfZliSFuW https://t.co/B3CHSw8e7B
#SYNGAP1

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

Dr. Helen Willsey (@goodfrognosis) has joined our SAB - Welcome! The Willsey Lab believes "The Future is Frogs" to unravel the underlying biology of disorders (including #SYNGAP1) and identifying effective treatments. We look forward to the future!

https://t.co/cSMrygjkEb

[Daniel Choquet @daniel_choquet1]

Paradigm shift for this new paper by @rhuganir SynGAP regulates synaptic plasticity and cognition independently of its catalytic activity | Science https://t.co/BYHMnVlK6p
And my commentary on it:
https://t.co/EM48wUAOet
@iins_bordeaux @BIC_Bordeaux @Neuro_Bordeaux @CNRSbiologie

[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.”

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

Need some inspiration to create your #SprintForSyngap team today? Here are some fun highlights from last year's campaign. Sign up today and help us raise money for #SYNGAP1 research! #SprintForOurKids #EveryStepCounts

https://t.co/Pi4YryrAk5

[Sandy Smith @sandysmith317]

@cureSYNGAP1 @ucb_news Can someone check the short link? I'm getting "This site can't be reached."

[Sandy Smith @sandysmith317]

@Endure_Rare @cureSYNGAP1 💪🏾💪🏾💪🏾🙌🏾🙌🏾

[Endure_Rare 💙💚💜🧬🏄🏻©️ @Endure_Rare]

@cureSYNGAP1 (SynGAP Research Fund) board meeting in DC, your family led organization working for all to cure Syngap1-related disorder. Building the future for patient clinical trials.

[DIPLOMICS @diplomics_sa]

Imagine being a mother or an aunt of a child with a #raredisease @DIPLOMICS_SA got the chance to meet @SydneyStel and Sandy Smith @ #rarex2024 .Thank you both for sharing your journey and passion for rare disease diagnosis. @cureSYNGAP1 mantra:Collaboration. Transparency.Urgency.

[Sandy Smith @sandysmith317]

@SydneyStel @diplomics_sa @cureSYNGAP1 Thank you @diplomics_sa. What a privilege to hear the progress in SA and all of Africa at #RareX2024. It's a strong & smart community; I came away hopeful and encouraged. And I signed the pledge! #RareDiseases

[Sandy Smith @sandysmith317]

Imagine it! Thank you, little flies, for giving up your life to research. It's helping!! #syngap1 @cureSYNGAP1 #RareDiseases

[Clement Chow @ClementYChow]

Just heard from another family that we've partnered with and things are looking good. while just an observational study, kids are improving while on a drug that we discovered in a fly screen.

[Sandy Smith @sandysmith317]

At #rarex2024 today in So Africa, Mama @SydneyStel shares her story on film! #syngap1 #RareDisease #nngwe #rdsa @cureSYNGAP1

[Sandy Smith @sandysmith317]

Here in Jo’burg, So Africa representing #SyngapResearchFund at #RareX rare disease conf. @cureSYNGAP1 is proud to be a conf sponsor. @SydneyStel

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

MUST LISTEN! In our most moving episode yet, SRF volunteer Paulina Polanco gets very personal about being a sibling to twin sisters with #SYNGAP1. https://t.co/vFvDZIGnjx

#SYNGAP1StoriesLibby #SYNGAP1StoriesEspy #SYNGAP1StoriesEp26 #Epilepsy #Autism #IntellectualDisability

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

"Kai loves people...whenever he's around a group of people and he feels it's a good vibe, that's his happy place!"

Episode 25 of #SYNGAP1Stories - https://t.co/vFvDZIGnjx.

#Syngap1 #Epilepsy 💜 #Autism 💙 #IntellectualDisability 💚#SYNGAP1StoriesKai