SETBP1 Society (@setbp1) header
SETBP1 Society (@setbp1) profile picture

SETBP1 Society

@setbp1

President of SETBP1 Society and Parent Advocate for SETBP1-HD

 Austin, TX
setbp1.org
Joined August 2017
  • Tweets203
  • Following157
  • Followers311
38Media
Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)Photo by SETBP1 Society (@setbp1)
#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_Searchlight_Da…
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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SETBP1 Society retweeted
Katie Miller (@katie15456) profile picture
Katie Miller@katie1545628 Feb 2023
Today is #RareDiseaseDay The road to a rare diagnosis is long and busy, full of unknowns and there are often more questions than answers. @setbp1 is a rare genetic neurodevelopmental disorder. @RareDiseases #ShowYourStripes #RareDiseaseDay2023
Image from Katie Miller (@katie15456)
Image from Katie Miller (@katie15456)
Image from Katie Miller (@katie15456)
Image from Katie Miller (@katie15456)
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These authors review three types of data systems (patient registries, clinical trial registries and genetic databases) that are concerned with ASD or ADHD and discuss their features, advantages and limitations: bit.ly/3MHnfMh
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Congrats to MCRI Prof Angela Morgan, who has secured federal funding from @NHMRC to improve #mentalhealth outcomes and increase the quality of life for #children with #neurodevelopmental disorders from #autism to #cerebralpalsy | @AngeMorg Find out more: mcri.edu.au/news/awards/fund…
Image from Murdoch Children's Research Institute (MCRI) (@MCRI_for_kids)
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🆕paper from the Speech and Language team at MCRI, identifying new genes for severe childhood #speech disorder | @MCRI_SpeechLang Published open access in @molpsychiatry 👉 nature.com/articles/s41380-0…
Little boy with a speech therapist

ALT Little boy with a speech therapist

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Who ISN'T a @Beyonce fan?! 5/14 at 3pm ET, ride with us to support rare disease research & train for the #PennMedMDBR2022! The #raredisease community is stronger together! Join us & @onepeloton to show your MDBR spirit, & make sure you tag us #MDBR2022! We want to see you ride!
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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If you plan to participate in the MDBR Virtual Spin Class this year, please take a moment to complete this brief survey! bit.ly/mdbrvirtual #PennMedMDBR2022
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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We are in the midst of planning for next years ride and it is getting us pretty excited! Hope to see you in person, June 11, 2021 for #MDBR 2022! #pennmedmdbr2022 #raredisease
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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The clinical features of SETBP1 syndrome. @setbp1 nature.com/articles/s41431-0…
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Thank you @AleParziAle Your important research findings have increased our understanding of Schinzel-Giedion Syndrome disease mechanisms. Because of you and your team, we are one step closer to finding clinically meaningful, life-altering treatments for our children. #SETBP1
Alessandro Sessa (@AleParziAle) profile pictureAlessandro Sessa@AleParziAle30 Jun 2021
Thrilled to share our work on the pathological mechanisms at the basis of the terrible Schinzel-Giedion Syndrome. Kudos to the incredible Federica Banfi and all the colls @zaghino @lucamassimino @broccoli_lab. Big thanks to @SanRaffaeleMI @foundation_sgs nature.com/articles/s41467-0…
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying...

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying...

Nature Communications - Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome characterized by severe intellectual and physical deficits due, at least in part, to early...

nature.com
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Thank you @Congenica and @charlesasteward for sharing one of our family's #raredisease journey and highlighting the importance of an early #genomic diagnosis. blog.congenica.com/how-schin…
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Don't miss our Virtual #MDBR tomorrow! There is still time to register to support #raredisease #research! Our virtual program will start at 11am EDT followed by a virtual spin class lead by our route coordinator Nikki Thiemann. Hope to "see" you there! #pennmedmdbr2021
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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Final Week! Week 6 challenge is our fundraising challenge! Raise $5 for every mile you move this week. Show us your progress for a chance to win a prize and we will announce the winner at our virtual event! #mdbrpennmed2021 #mdbr
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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Join us for a FREE virtual HIIT class (High Intensity Interval Training) May 8th!! Let's get our hearts pumping and our muscles burning before June 12th! Register today! Bit.ly/MDBRHIIT #pennmedmdbr2021
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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Meet a Board Member: @RealHaleyOyler of @setbp1
Image from COMBINEDBrain (@combined_brain)
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There is still time to register for our free virtual yoga class! Register today! Let's train for our virtual MDBR together! xitter.gq/MDBRide4Rare/status/13…
UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare) profile pictureUPenn Million Dollar Bike Ride by ODC@MDBRide4Rare25 Mar 2021
Join us for a free virtual MDBR yoga class, Saturday April 17th @ 10:30am EDT. Let's work on our flexibility before our ride! Register today! bit.ly/MDBRyoga
Image from UPenn Million Dollar Bike Ride by ODC (@MDBRide4Rare)
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Simons Searchlight participants with a single-gene condition are more likely to have seizures than individuals with copy number variants (CNVs).
Image from Simons Searchlight (@s_searchlight)
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Everyone can participte in raising awareness for people with rare diseases, including healthcare professionals, researchers & pharmacists We take this opportunity to send a special thanks to all of their work, care & dedication during the global pandemic #RareDiseaseDay ❤️
Image from Rare Disease Day (@rarediseaseday)
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Research grant of over €2 Million ($2.5 Million) offers new hope for children with rare condition Schinzel-Giedion Syndrome! Read the full @foundation_sgs press release below.
Image from COMBINEDBrain (@combined_brain)
Image from COMBINEDBrain (@combined_brain)
Image from COMBINEDBrain (@combined_brain)
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#SimonsSearchlight needs #researchers to #publish on our #data submitted by our participants, more data than ever before, contact us if you have any questions.
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