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SETBP1 Society

@setbp1

President of SETBP1 Society and Parent Advocate for SETBP1-HD

 Austin, TX
setbp1.org
Joined August 2017
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๐Ÿšดโ€โ™‚๏ธ SETBP1Strong Grant for the Million Dollar Bike Ride is Now Open for Applications! ๐Ÿ”” 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/uploadโ€ฆ!
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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.14579
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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.
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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
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๐Ÿš€ 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
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๐Ÿšดโ€โ™‚๏ธ๐ŸŒŸ Check out our Top 10 SETBP1Strong Million Dollar Bike Ride Fundraisers! ๐ŸŒŸ We're so proud of our top fundraisers supporting SETBP1 research! Your dedication is making a huge impact. ๐Ÿ“ท Join us: charity.pledgeit.org/t/J2d27โ€ฆ #SETBP1Strong
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๐ŸŒŸ Thrilled to share the latest in our ๐’๐„๐“๐๐๐Ÿ ๐†๐ž๐ง๐ž๐ญ๐ข๐œ๐ฌ: ๐๐ข๐ญ๐ž-๐’๐ข๐ณ๐ž๐ ๐๐ซ๐ž๐š๐ค๐ญ๐ก๐ซ๐จ๐ฎ๐ ๐ก๐ฌ ๐Ÿงฌseries! @jordan_whitlock dives into the Clinical delineation of SETBP1 haploinsufficiency disorder paper. bit.ly/SGBSB2 #SETBP1Strong
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๐ŸŒŸ Exciting News Alert -๐’๐„๐“๐๐๐Ÿ ๐†๐ž๐ง๐ž๐ญ๐ข๐œ๐ฌ: ๐๐ข๐ญ๐ž-๐’๐ข๐ณ๐ž๐ ๐๐ซ๐ž๐š๐ค๐ญ๐ก๐ซ๐จ๐ฎ๐ ๐ก๐ฌ ๐ŸงฌIntroducing our latest initiative for the SETBP1 Community! Dive into digestible & insightful summaries of groundbreaking research articles on SETBP1. lnkd.in/g4Kxbrta
๐’๐„๐“๐๐๐Ÿ ๐†๐ž๐ง๐ž๐ญ๐ข๐œ๐ฌ: ๐๐ข๐ญ๐ž-๐’๐ข๐ณ๐ž๐ ๐๐ซ๐ž๐š๐ค๐ญ๐ก๐ซ๐จ๐ฎ๐ ๐ก๐ฌ - Summary of "Genetic architecture of childhood speech disorder: a review"

ALT ๐’๐„๐“๐๐๐Ÿ ๐†๐ž๐ง๐ž๐ญ๐ข๐œ๐ฌ: ๐๐ข๐ญ๐ž-๐’๐ข๐ณ๐ž๐ ๐๐ซ๐ž๐š๐ค๐ญ๐ก๐ซ๐จ๐ฎ๐ ๐ก๐ฌ - Summary of "Genetic architecture of childhood speech disorder: a review"

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Our inaugural piece, crafted by @jordan_whitlock, a distinguished member of our MSAB, sets the stage for whatโ€™s to come! ๐Ÿ” ๐—•๐—ฟ๐—ฒ๐—ฎ๐—ธ๐—ถ๐—ป๐—ด ๐—ป๐—ฒ๐˜„ ๐—ฏ๐—ผ๐˜‚๐—ป๐—ฑ๐˜€ ๐—ถ๐—ป ๐—ฆ๐—˜๐—ง๐—•๐—ฃ๐Ÿญ ๐—ฟ๐—ฒ๐˜€๐—ฒ๐—ฎ๐—ฟ๐—ฐ๐—ต ๐—ถ๐—ป ๐—ฎ๐—ป ๐—ฒ๐—ฎ๐˜€๐˜† ๐˜๐—ผ ๐—ฑ๐—ถ๐—ด๐—ฒ๐˜€๐˜ ๐˜„๐—ฎ๐˜† #SETBP1Strong #childhoodapraxiaofspeech
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#ShineYourSearchlightโœจ 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_Searchlight_Daโ€ฆ #SETBP1Strong
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#ShineYourSearchlightโœจ 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_Searchlight_Daโ€ฆ
Image from Simons Searchlight (@s_searchlight)
Image from Simons Searchlight (@s_searchlight)
Image from Simons Searchlight (@s_searchlight)
Image from Simons Searchlight (@s_searchlight)
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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
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#ShineYourSearchlightโœจ 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

Simons Searchlight | Driven by science. United by hope.

To create scientific breakthroughs for rare genetic neurodevelopmental disorders, families and scientists must come together.

simonssearchlight.org
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A Huge Congrats to @greatcait and her @B_RADLAB @UofSC as the Grant Awardee of this yearโ€™s #SETBP1Strong #MDBR Grant Award! Thanks to everyone that contributed physically, financially, and/or emotionally to help make this happen! orphandiseasecenter.med.upenโ€ฆ

Linking SETBP1-HD EEG Biomarkers to Clinical Profiles โ€” Orphan Disease Center

Caitlin Hudac University of South Carolina $88,740.00

orphandiseasecenter.org
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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/fundraisโ€ฆ or visit facebook.com/SETBP1! #SETBP1Strong
Image from SETBP1 Society (@setbp1)
Image from SETBP1 Society (@setbp1)
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๐Ÿ’ฒFunds 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!
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#SETBP1Strong Million Dollar Bike pilot grant program is now OPEN for Letters for Interest (LOIs)! Apply at bit.ly/MDBR2023RFA by Sept 15th!

Million Dollar Bike Ride 2023 Pilot Grant Program - LOI โ€” Orphan Disease Center

The ODC is offering 39 research opportunities focusing on 31 different rare diseases. This program provides a one-year grant to support research related to a rare disease represented in the 2023...

orphandiseasecenter.org
UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare) profile pictureUPenn Million Dollar Bike Ride by ODC@MDBRide4Rare15 Aug 2023
๐Ÿšจ๐Ÿšจ๐ŸšจThe 2023 #MDBR Pilot Grant Program is now open and accepting Letters of Interest (LOIs)! Apply here today: bit.ly/MDBR2023RFA LOIs are due Sept. 15th. Grants are open to the international research community. ๐Ÿ”ฌ๐Ÿ”ฌ๐Ÿ”ฌ #raredisease #rfa #pennmedmdbr2023 #rarediseasegrants
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Happy Father's Day to all of our SETBP1 community dads, granddads, and male caregivers! We see you and appreciate all you do! #SETBP1Strong
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We're using the power of partnership to collect biospecimens across rare neurodevelopmental disorders! Learn more about the @combinedbrain Biorepository Roadshow: setbp1.org/combinedbrain-bioโ€ฆ
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