SETBP1 Society

🚴‍♂️ SETBP1Strong Grant for the Million Dollar Bike Ride is Now Open for Applications! 🔔 Grant Amount: $68,544 Letter of Interest (LOI) Deadline: Friday, September 20th by 8:00 p.m. EST View the RFA for the SETBP1-HD pilot grant at setbp1.org/wp-content/upl…!

4/4 Higher rates for neonatal feeding difficulties and febrile seizures were reported for individuals with SETBP1-HD. Additional prominent characteristics included sleep, vision, and gastrointestinal issues, hypotonia, & high pain tolerance. #SETBP1Strong @phenotypicvariation

3/4 While restricted interests & repetitive behaviors present challenges, a relative strength was observed in social motivation w/in both cohorts. Individuals with SETBP1-RD reported a risk for heart issues & compared to SETBP1-HD greater risks for orthopedic and somatic issues.

1/4 Just published: SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study - reports #SETBP1 neurodevelopmental disorder information from the SETBP1 registry in Simons Searchlight! Link: doi.org/10.1111/cge.14…

🚀 Exciting news! We've launched our SETBP1-HD Microgrant Program to support innovative research. Calling all researchers interested in neurodevelopmental disorders, transcription factor regulation, disease mechanisms, & drug repurposing. LOIs due Aug 2nd! bit.ly/setbp1micro

🚴‍♂️🌟 Check out our Top 10 SETBP1Strong Million Dollar Bike Ride Fundraisers! 🌟 We're so proud of our top fundraisers supporting SETBP1 research! Your dedication is making a huge impact. 📷 Join us: charity.pledgeit.org/t/J2d27ALeN5 #SETBP1Strong

🌟 Thrilled to share the latest in our 𝐒𝐄𝐓𝐁𝐏𝟏 𝐆𝐞𝐧𝐞𝐭𝐢𝐜𝐬: 𝐁𝐢𝐭𝐞-𝐒𝐢𝐳𝐞𝐝 𝐁𝐫𝐞𝐚𝐤𝐭𝐡𝐫𝐨𝐮𝐠𝐡𝐬 🧬series! @jordan_whitlock dives into the Clinical delineation of SETBP1 haploinsufficiency disorder paper. bit.ly/SGBSB2 #SETBP1Strong

Our inaugural piece, crafted by @jordan_whitlock, a distinguished member of our MSAB, sets the stage for what’s to come! 🔍 𝗕𝗿𝗲𝗮𝗸𝗶𝗻𝗴 𝗻𝗲𝘄 𝗯𝗼𝘂𝗻𝗱𝘀 𝗶𝗻 𝗦𝗘𝗧𝗕𝗣𝟭 𝗿𝗲𝘀𝗲𝗮𝗿𝗰𝗵 𝗶𝗻 𝗮𝗻 𝗲𝗮𝘀𝘆 𝘁𝗼 𝗱𝗶𝗴𝗲𝘀𝘁 𝘄𝗮𝘆 #SETBP1Strong #childhoodapraxiaofspeech

🌟 Exciting News Alert -𝐒𝐄𝐓𝐁𝐏𝟏 𝐆𝐞𝐧𝐞𝐭𝐢𝐜𝐬: 𝐁𝐢𝐭𝐞-𝐒𝐢𝐳𝐞𝐝 𝐁𝐫𝐞𝐚𝐤𝐭𝐡𝐫𝐨𝐮𝐠𝐡𝐬 🧬Introducing our latest initiative for the SETBP1 Community! Dive into digestible & insightful summaries of groundbreaking research articles on SETBP1. lnkd.in/g4Kxbrta

#ShineYourSearchlight✨ Share your medical history with @s_searchlight! This will help you and researchers get a more accurate picture of what it means to have [genetic syndrome name] over time. Go to your dashboard to complete your survey: bit.ly/Simons_Searchl… #SETBP1Strong

#ShineYourSearchlight✨ Have you uploaded your genetic lab report to your @S_Searchlight dashboard? Researchers need specific details in your genetic lab report to learn more about your genetic condition. Go to your dashboard + share your medical journey: bit.ly/Simons_Searchl…

Welcome @jordan_whitlock, PhD to our #SETBP1 Society MSAB! We are thrilled to have her passion and expertise in the areas of patient-specific genomic sequencing, cellular and animal models, and drug repurposing and research plan development on our team! wp.me/P8pQsH-7J

#ShineYourSearchlight✨ Not enough is known about SETBP1 haploinsufficiency and related disorders. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2024. Go to SimonsSearchlight.org to sign up for FREE! #SETBP1Strong

A Huge Congrats to @greatcait and her @B_RADLAB @UofSC as the Grant Awardee of this year’s #SETBP1Strong #MDBR Grant Award! Thanks to everyone that contributed physically, financially, and/or emotionally to help make this happen! orphandiseasecenter.med.upenn.edu/awarded-grants…

Double your donation! Up to $125 donation matching for supporting SETBP1 Society on #GivingTuesday! Check out or donate to one of our SETBP1 Fundraisers at facebook.com/SETBP1/fundrai… or visit facebook.com/SETBP1! #SETBP1Strong

💲Funds raised from our #SETBP1Strong Team's participation in the Million Dollar Bike Ride have funded 7 SETBP1 grants totaling $331,819 so far! This year, who will be awarded our next SETBP1Strong MDBR pilot grant for $88,740? LOIs are due by Friday, September 15th!

#SETBP1Strong Million Dollar Bike pilot grant program is now OPEN for Letters for Interest (LOIs)! Apply at bit.ly/MDBR2023RFA by Sept 15th!

Happy Father's Day to all of our SETBP1 community dads, granddads, and male caregivers! We see you and appreciate all you do! #SETBP1Strong

We're using the power of partnership to collect biospecimens across rare neurodevelopmental disorders! Learn more about the @combinedbrain Biorepository Roadshow: setbp1.org/combinedbrain-…