✨ The Simons Searchlight team attended the #HNRNP Family Foundation Conference hosted by @HNRNP_Family & @YBRP4hnrnph2! We connected w/ families, answered questions, helped w/research tasks, & sent kits for blood collection. 🧬🩸. Learn more our research:

🎉 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: #CareForRare

🌟 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: #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. 💬🧬🤝. 🔗 #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: #RareDiseaseResearch #CareForRare #KANSL1 #17q213

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

🩸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:

🧬💛 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. 🔗 #CLCN4 #RareDiseaseResearch #CareForRare

📬 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

🌍 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: #RareDiseaseResearch #GeneticsResearch #CareForRare #PatientAdvocacy

#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 to sign up for FREE! #DLG4

📊🧬 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: More info:

🌍 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 ✨. #ShineYourSearchlight✨ #SimonsSearchlight

💙 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. 🔗 #SimonsSearchlight #RareDiseaseCommunity #PatientAdvocacy

Your annual updates to Simons Searchlight help researchers understand how MED13L Syndrome evolves over time, benefiting families like yours. 📊 . Visit your dashboard to share updates and complete surveys: .

#DontCutMyMedicaid My grandson will be 14 in July. He’s a great guy. He’s in special classes because he has a genetic mutation called TLK2 syndrome. Many of the services he needs are funded through Medicaid. You can read about the syndrome here:

🎉 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: #CareForRare #FamilyPoweredResearch

📣 Researchers: Apply now for SFARI Data Analysis Awards! Get support to publish using rich datasets from Simons Searchlight and other autism & neurodevelopmental disorder cohorts. #autismresearch #NDD #SFARI #SimonsSearchlight #researchfunding.