#simonssearchlight ผลการค้นหา

🌐🧬 #SimonsSearchlight has surpassed 8,700 participants with genetic variants in our research! Thank you to every family whose dedication drives discoveries to improve the lives of people with genetic conditions. 💙🤝 Learn more ➡️ bit.ly/Simons_Searchl… #CareForRare

💙💛 Have you or a loved one been diagnosed with a rare genetic neurodevelopmental condition? #SimonsSearchlight is here to help. Our Family Guide offers tools & resources for every step of your journey. 🧬 💡 Explore today: bit.ly/Searchlight_Fa… #CareForRare #PatientAdvocacy

🎉 Today we celebrate #CACNA1CAwarenessDay w/ Timothy Syndrome Alliance! We have 16 participants w/ #CACNA1C-related syndrome in #SimonsSearchlight. 🧬 Explore gene info, resources & how to join ➡️ bit.ly/CACNA1C_Simons… #CareForRare #PatientAdvocacy #RareDiseaseResearch

🌟 Today we celebrate #KleefstraSyndromeAwarenessDay with our partners @Kleefstrasyndro & @IDefineorg! 💛 51 participants with Kleefstra syndrome are part of #SimonsSearchlight. 🔗 Resources, advocacy & data: bit.ly/EHMT1Report #RareDisease #KleefstraSyndrome #EHMT1

We’re excited to share two key resources to help our Patient Advocacy Partners boost outreach and connect with families! 💙 🌐 Partnership Page: bit.ly/PAG_Partnershi… 📊 Progress Dashboard: bit.ly/Searchlight_Pa… #PatientAdvocacy #RareDiseaseResearch #SimonsSearchlight

📣 Reminder: Apply to join our Community Advisory Committee and help shape the future of rare genetic neurodevelopmental disorder research. 🗓️ Deadline: Sept 12 🔗 bit.ly/Searchlight_CA… #CareForRare #RareDiseaseResearch #SimonsSearchlight

Stay connected with #SimonsSearchlight! ✨ Sign-up for our quarterly e-newsletter and learn about research updates, educational resources and program announcements. 🔗 Subscribe at SimonsSearchlight.org. #CareForRare #RareDiseaseResearch

🎥 New to #SimonsSearchlight or need a refresher? Our step-by-step video makes signing up easy! ✨ We partner with families, researchers & advocacy communities worldwide to better understand rare genetic conditions. 🧬📊 Every contribution matters! 🔗 bit.ly/How_To_Registe…

🎉 Today we celebrate #SLC6A1Awareness Day w/ our partners at @SLC6A1_Connect! 💛 Grateful to the 237+ participants w/#SLC6A1 -related syndrome in #SimonsSearchlight & the families powering this research. Explore data, resources & more: bit.ly/SLC6A1Reports #CareForRare

🩸Your blood sample + survey data = powerful research resources. 🔬 As a #SimonsSearchlight participant, you can choose to donate a blood sample. These de-identified samples help researchers better understand rare genetic conditions. Learn more: bit.ly/Searchlight_Da…

🧬 💙 Is your child turning 18? To keep their participation in #SimonsSearchlight, new consent is required—whether they’ll consent independently or you’ll continue as their guardian. Learn about guardianship & next steps: bit.ly/Guardianship_S… #RareDiseaseResearch

🎉 It’s #HNRNPH2AwarenessWeek! We’re proud to celebrate with Yellow Brick Road Project & HNRNP Family Foundation 💛 More than 74 participants with #HNRNPH2 are in #SimonsSearchlight. 🔍 Explore data, resources & more: bit.ly/HNRNPH2Report #CareForRare #FamilyPoweredResearch

📊🧬 New #SimonsSearchlight quarterly reports are here! Fresh data from 73 genetic communities—incl. one group getting their first report! These insights are powered by families like YOU - thank you! 💙 Reports: bit.ly/Quarterly_Repo… More info: bit.ly/Why_Join_Simon…

💛 Today is #CTNNB1AwarenessDay! Huge thanks to @ctnnb1cc for their ongoing partnership. 🧬 We have 299 participants w/ CTNNB1 syndrome in #SimonsSearchlight. Find resources, reports & more: bit.ly/CTNNB1Report 🌟 Let’s raise awareness together! #CTNNB1 #RareDiseaseResearch

💙 Meet the Simons Searchlight Team! We're scientists, clinicians, genetic counselors, data analysts & more. From research updates to survey help, we’re here for your family every step of the way. 💬🧬🤝 🔗 bit.ly/Simons_Searchl… #CareForRare #SimonsSearchlight

💛 Today is #KDVSAwarenessDay! We’re proud to support our friends at the @KdVSFoundation. 🌟 68 participants w/ KDVS-related syndrome are in #SimonsSearchlight. 🧬 Find advocacy, resources & research: bit.ly/Genes_We_Study #RareDiseaseResearch #CareForRare #KANSL1 #17q213

💙 Advocacy partners—explore how your community is growing in Simons Searchlight! ➡️ Partnership page: See how we collaborate ➡️ Dashboard: View real-time data on registration, surveys & reach 🔗 bit.ly/PAG_Partnershi… #SimonsSearchlight #RareDiseaseCommunity #PatientAdvocacy

🧬💛 We’re proud to join @CureCLCN4 in celebrating #CLCN4AwarenessWeek! Thanks to their support, 61 individuals with CLCN4-related syndrome are part of the #SimonsSearchlight community. 🔗 bit.ly/CLCN4Report #CLCN4 #RareDiseaseResearch #CareForRare

🌍 If you speak English, Dutch, French, German, Italian, Portuguese or Spanish and have a genetic condition on our study list, you can participate in #SimonsSearchlight! Learn more: bit.ly/Why_Join_Simon… #RareDiseaseResearch #GeneticsResearch #CareForRare #PatientAdvocacy

🌟 Meet our summer interns! 🌟 Welcome Juanita (Cornell Univ., pre-MD/PhD) & Katie (Bucknell Univ., future genetic counselor) to #SimonsSearchlight! They’re passionate about helping families living with rare genetic conditions. We’re lucky to have them! 💙 #FutureOfGenetics

🧬 💙 Is your child turning 18? To keep their participation in #SimonsSearchlight, new consent is required—whether they’ll consent independently or you’ll continue as their guardian. Learn about guardianship & next steps: bit.ly/Guardianship_S… #RareDiseaseResearch

🎉 Today we celebrate #SLC6A1Awareness Day w/ our partners at @SLC6A1_Connect! 💛 Grateful to the 237+ participants w/#SLC6A1 -related syndrome in #SimonsSearchlight & the families powering this research. Explore data, resources & more: bit.ly/SLC6A1Reports #CareForRare

🌟 Today we celebrate #KleefstraSyndromeAwarenessDay with our partners @Kleefstrasyndro & @IDefineorg! 💛 51 participants with Kleefstra syndrome are part of #SimonsSearchlight. 🔗 Resources, advocacy & data: bit.ly/EHMT1Report #RareDisease #KleefstraSyndrome #EHMT1

🎉 Today we celebrate #CACNA1CAwarenessDay w/ Timothy Syndrome Alliance! We have 16 participants w/ #CACNA1C-related syndrome in #SimonsSearchlight. 🧬 Explore gene info, resources & how to join ➡️ bit.ly/CACNA1C_Simons… #CareForRare #PatientAdvocacy #RareDiseaseResearch

#ShineYourSearchlight✨ Not enough is known about DLG4-Synaptopathy. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to SimonsSearchlight.org to sign up for FREE! #DLG4

Rebeca Ridings, our Research & Charity Manager, recently discussed her role and experiences at @CureCLCN4 in an interview with @s_searchlight ✨ Check it out here 👉simonssearchlight.org/2024/04/22/lea… #cureclcn4 #simonssearchlight

🎉 Celebrating #DDX3XAwarenessDay with @ddx3x! We’re proud to have 16 participants with DDX3X-related syndrome registered in #SimonsSearchlight. 🧬 Explore resources, research, & ways to join: bit.ly/SimonsSearchli… #DDX3X #CareForRare #RareDiseaseResearch #PatientAdvocacy

Providing a blood sample is a key step in advancing research on CLCN4-condition! Not only is it an invaluable resource for researchers, but it also ensures that scientists are researching your child's specific 'type' of CLCN4 variant🩸#SimonsSearchlight #clcn4patientregistry

Blood samples submitted to the #SimonsSearchlight registry can be used to generate iPSCs. These cell lines are invaluable research tools, helping us understand the effects of different CLCN4 genetic variants on different cell types of interest, such as neurons! 🔬 #cureclcn4

📬 This Month's Newsletter is Here! 📬 We're diving into Simons Searchlight Puberty Results and why they matter for our community. A hot topic in the Facebook group, and now we’re sharing valuable data! #MED13L #RareDisease #SimonsSearchlight

🌍 We’re excited to share that families around the world can now participate in Simons Searchlight in German, Italian, and Portuguese! Not part of Simons Searchlight, but want to learn more? Visit SimonsSearchlight.org. ✨ #ShineYourSearchlight✨ #SimonsSearchlight

#ShineYourSearchlight✨ Not enough is known about CTNNB1. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to SimonsSearchlight.org to sign up for FREE! #CTNNB1 #CTNNB1Syndrome @s_searchlight @OnceUponAGene

The #clcn4patientregistry is held by #simonssearchlight. But who is Simons Searchlight? To learn more about this foundation and their mission to deepen our understanding of genetic neurodevelopmental conditions please visit: simonssearchlight.org

Ready to join #SimonsSearchlight? After creating your account & filling in consent forms, simply upload your/your child’s genetic lab report. Can't find it? They can help locate it, just log into your dashboard to give permission!🧬research.simonssearchlight.org/login #clcn4patientregistry

📊 The Latest Simons Searchlight Report is Here! 📊 @S_Searchlight Offering valuable insights into CHAMP1 and the progress in our research journey. 📥 Download it here: simonssearchlight.org/research/what-… #CHAMP1Research #SimonsSearchlight #ScientificProgress #CHAMP1Community

#ShineYourSearchlight✨ Continúe su viaje en #SimonsSearchlight y ayude a nuestra comunidad a crecer. Termina tus encuestas anuales: bit.ly/Simons_Searchl… #SYNGAP1 @VickyAArteaga @S_Searchlight

#ShineYourSearchlight✨ Not enough is known about Okur-Chung Neurodevelopmental Syndrome (OCNDS). 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! #OCNDS #CSNK2A1

🩸Your blood sample + survey data = powerful research resources. 🔬 As a #SimonsSearchlight participant, you can choose to donate a blood sample. These de-identified samples help researchers better understand rare genetic conditions. Learn more: bit.ly/Searchlight_Da…

#ShineYourSearchlight✨ Comparta su historia médica con #SimonsSearchlight. Esto le ayudará a usted y a los investigadores a obtener una imagen más precisa de lo que significa tener SYNGAP1 a lo largo del tiempo: bit.ly/Simons_Searchl… #SYNGAP1 @S_Searchlight @VickyAArteaga

#ShineYourSearchlight✨ ¿Has subido tu informe de laboratorio genético a tu panel de #SimonsSearchlight? Los investigadores necesitan esta información específica para aprender más sobre #SYNGAP1. Ve a tu tablero: bit.ly/Simons_Searchl… @S_Searchlight