Congratulations Xuebing Wu and Dr Wendy Gold on your grant awards for important #stxbp1 research. #AntisenseOligos #Omics Thanks UPenn Million Dollar Bike Ride by ODC #LulusCrew! Let's #curestxbp1!

Join us to celebrate Dr. Noah Guiberson at the Young Investigator Draft on February 3! With Uplifting Athletes, we are awarding Noah a $20,000 grant to support his #STXBP1 research. Join in person at Lincoln Financial Field in Philadelphia or via livestream! charity.pledgeit.org/YID2024

Our work on epileptic spasms in STXBP1-related disorders is now online Epilepsia! Ingo Helbig Julie Xian Sarah McKeown Ruggiero Katie Rose Sullivan Danielle de Campo stxbp1

This sounds nuts. Episode #150 (😮) is titled “Treating Epilepsy By Increasing Neuronal Excitement!” INCREASING! With scientist Jean-François Perrier of the Perrier lab at University of Copenhagen Research! Jean-François’ discovery re the rare genetic epilepsy #STXBP1 will hopefully 🤞🏻 be applied

Happy Easter! Happy Census! #STXBP1 Q1 census: 1085 patients worldwide! +112 patients identified this quarter! stxbp1disorders.org/news/stxbp1-ce… #stxbp1globalconnect Asc. Sindrome STXBP1

Promising data at #ASGCT2024 from Wu Chen From the Labs at Baylor College of Medicine, and Capsida Biotherapeutics on CAP-002 gene therapy for #STXBP1! Dose dependent response in mice, broad brain biodistribution in NHP after IV delivery. Capsida Biotherapeutics in IND-enabling studies w goal of clinical trials starting H1 2025

Fantastic @People interview with Bridget Finn #STXBP1 champion and mom to STX'er Flo, on her family's journey and advocacy work. So thankful for all you've done (so far!) and our ongoing collaboration! Let's #curestxbp1! loom.ly/Bf9_ZgE

Encouraging data from Encoded Therapeutics @ #ASGCT24 on #STXBP1 gene therapy work! Dose dependent rescue of seizure, motor, memory phenotypes in mice. 2 capsids tested in NHP with strategy for DRG toxicity risk w DT-A. Thanks Encoded Therapeutics for long-term partnership! loom.ly/TQrqD8Y

El síndrome STXBP1, una enfermedad rara con implicaciones sociales theconversation.com/el-sindrome-st… a través de The Conversation ES Asc. Sindrome STXBP1 stxbp1 David Abner stxbp1 italia STXBP1 Sverige

Our STXBP1 Researcher and Family Summit is 18-21 July. Don't miss it! Research Roundtable 18-19 July Family meeting 20- 21 July Joint dinner and dance party Friday night More information and register: stxbp1disorders.org/2024-summit

This was such a great meeting! 🗽 It was a privilege to attend the INSYNC-AS meeting representing the Loulou Foundation (#CDKL5) and to meet FAST and stxbp1 and RSRT and FamilieSCN2A and so many experts from academia, industry and the regulatory world. Thank

The Science + Love = CURE Podcast #15 is here! This is the #STXBP1 10 minute monthly update with Charlene Son Rigby Check it out here: youtube.com/watch?v=UKLfKf… Miss any of the previous updates? stxbp1disorders.org/podcasts 📷

The Q2 2024 #STXBP1 Census has been published: 1124 patients! We added 39 in Q2, including the first patients in Kazakhstan. #stxbp1globalconnect Asc. Sindrome STXBP1 stxbp1 italia stxbp1disorders.org/news/stxbp1-ce…

Kicking off our Research Roundtable at the #STXBP1 Summit 2024 today. We are so excited to welcome our research community to Pennsylvania! stxbp1disorders.org/2024-summit-re…

Tremendous two days with our #STXBP1 researchers at our Research Roundtable. We are accelerating science progress! Let's #curestxbp1 #STXBP1Summit2024

Summary of our July #STXBP1 Research Roundtable posted! So much research progress including in urgently needed therapies. And, we have so much still to do to #curestxbp1! #Innovation #Collaboration #raredisease stxbp1disorders.org/blog/impressio…

A portion of proceeds from today's 50/50 will benefit American Cancer Society Detroit Men Wear Pink and the stxbp1 Foundation on behalf of Reese Olson and Shelby Miller's respective #PlayersWeekend causes!

Two $70K grants for #STXBP1 research through the UPenn Million Dollar Bike Ride by ODC from The Orphan Disease Center @ UPenn. LOIs due 24 Sept! Thanks to our riders with #LulusCrew / Team STXBP1. orphandiseasecenter.squarespace.com/grants/event-f… #RareDisease Ben Prosser

Our proposal for an #ICD10 code is being presented now at the ICD10 C&M meeting. #STXBP1 needs a code!

STXBP1 is hiring an Executive Director! Help us expand and scale our work so we can achieve our mission to accelerate #STXBP1 research, and activate and support our community. stxbp1disorders.org/careers