Wrapped up the 2024 Syngap Research Fund Conference in LA! 🧬💙
Grateful for the amazing family connections made and inspired by the groundbreaking research from top universities and labs worldwide. Hope is stronger than ever!
#Syngap1#RareDisease#HopeForACure@cureSYNGAP1
Today, on #RareDiseaseDay, we honor all affected by conditions like #Syngap1. Since Saylor's dx, our journey has been a mix of challenges & blessings. Let's also recognize the unsung heroes—teachers, caretakers, therapists—who play crucial roles in our journey 💜🧬🙏@cureSYNGAP1
Saylor received her 1st dose #Ravicti thanks 2 @DrZachGrinspan@WCMpeds. Leading our 1st #SYNGAP1 drug trial. Ravicti, orig. 4 urea cycle disorders, now explored in preventing seizures and helping cognition. We 😍 this opp. & remain hopeful for 🙌 outcomes! @cureSYNGAP1
Saylor also had to have a 48hr VEEG. The team @WCMpeds was amazing! They took their time putting on each lead & made sure she was comfortable the entire 2 hrs it took.
NEWS! @julietkknowles of @Stanford_Neuro awarded $1⃣3⃣0⃣,0⃣0⃣0⃣ to study maladaptive myelination 🧠 & epilepsy⚡️ in #SYNGAP1 🧬, testing in SRF supported 🐭 models from @rhuganir.
#collaboration 🤝
👉 @cureSYNGAP1 Grant applications due in 15 days.
https://t.co/n5WhUbOa5K
There is no cure for #SYNGAP1, but SRF and its extensive team of volunteers are working daily toward that goal. Together, we can do great things!
#SYNGAP1Conference2023#Volunteer
Today, June 21, is SYNGAP1 Awareness Day!
#SYNGAP1 families need family and friends to form a community of support. SRF needs similar support to help us achieve our ultimate goal of finding a cure. #strongertogether
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Es un honor participar y representar a @cureSYNGAP1 como panelista compartiendo la historia de nuestra hija Amelia y la importancia de las organizaciones de pacientes que logran cambiar el rumbo de la enfermedad.
@cureSYNGAP1@SMNPediatrica@mexico#Chihuahua#Neurology
A nice write up at @KSLcom about our partnership with @cureSYNGAP1 to try to find a possible therapy for SYNGAP1. Flies to the rescue.
https://t.co/1aqvbvmboM
Our legal director Kevin Frye and CEO @JMGraglia are @StJude PTNI to learn about Pediatric Translational Neuroscience alongside 3️⃣0️⃣ Patient Advocacy Groups. We are ensuring that #SYNGAP1 is part of the conversation & our patients will have every opportunity for new therapies.
Fabulous visit to Philadelphia! @cureSYNGAP1 & @curestxbp1 met with the ENDD teams at @PennMedicine & @ChildrensPhila.
ENDD Program is the end of excuses re treating #SYNGAP1 & #STXBP1. The incredible souls in these photos can do this.
We are excited to partner with ENDD.