Simons Searchlight

What is #SimonsSearchlight? A #research study looking at genetic changes associated with #autism and other #neurodevelopmental disorders. Over 200 #genetic changes (CNVs and genes) are included in this #study.

🌟 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

Every story matters. 💙 Thank you to the families who connected w/ us at a recent patient advocacy conference. Your voice is powering progress. 📲 Log in to complete surveys or send your blood sample: bit.ly/Simons_Searchl… Not enrolled yet? Start here: bit.ly/Why_Join_Simon…

💙 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

🧬 Simons Searchlight is proud to join #StartGenetic — a new movement raising awareness for genetic testing ahead of #GeneticTestingActionDay on July 25, honoring Rosalind Franklin. Let’s help shorten the diagnostic journey. 💙💛 🔗 startgenetic.org #RareGenetics

💛 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

The @S_Searchlight team had a great time at these #patientadvocacy conferences for these gene groups: ✨ MED13L ✨ CTNNB1 ✨ Coffin-Siris ✨ GRIN ✨ 5p- We shared data, helped families & answered Qs. Grateful to support these communities! 💛 🔗 simonssearchlight.org/why-join-simon…

Our new SFARI Data Analysis RFA will provide support for scientists interested in working with previously collected datasets relevant to the basic science of autism, like data from @SPARKforAutism or @s_searchlight. Learn more: sfari.org/2025/07/01/app… #science #autismresearch

💙 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

📣 Researchers: Apply now for SFARI Data Analysis Awards! Get support to publish using rich datasets from Simons Searchlight and other autism & neurodevelopmental disorder cohorts. sfari.org/2025/07/01/app… #autismresearch #NDD #SFARI #SimonsSearchlight #researchfunding

Simons Searchlight in the Community 🌟 We’re hitting the road this July to attend 13+ patient advocacy conferences! ✅ Share research ✅ Help families join ✅ Collect samples ✅ Connect in person Grateful to grow, support & advance research together! 💙 #RareDisease

📊 Research update! From April to June, 554 new individuals w/ a genetic condition joined Simons Searchlight. We’re now connected w/ 8,607 participants w/ a genetic diagnosis & counting! Thanks to our families & amazing advocacy partners! 💙 Learn more: bit.ly/Searchlight_Re…

🧬💛 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

🚨New data alert! Updated Simons Searchlight participant data has been released to support rare genetic research. A huge thanks to families like yours who are driving discoveries and advancing research! 💛🧬 💡 Your participation is making a real impact: bit.ly/Searchlight_Da…

📊 New SFARI RFA! Researchers can apply for funding to analyze existing autism & NDD datasets—including Simons Searchlight data. A great chance to deepen insights using rich, ready-to-use resources. Learn more: sfari.org/grant/2025-dat… #RareGenetics #RareDiseaseResearch

🌍 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

🎉🧬 Today we join @cureSYNGAP1 & @SyngapNetwork to celebrate #SYNGAP1AwarenessDay! We’re proud to have 198 participants with #SYNGAP1 -related syndrome in Simons Searchlight. 🔗 Explore data, guides & more: bit.ly/SYNGAP1Report #RareDiseaseResearch #PatientAdvocacy

💙💛 Diagnosed with a rare genetic condition? Our resource, "Navigating Life After a Rare Genetic Diagnosis," offers tools and support for your journey. 🧬 Explore the guide and share with your community: bit.ly/Searchlight_Fa…💡 #RareGenetics #GeneticCounseling #FamilySupport

Sharman and her son Andrew first joined the SPARK study, then Simons Searchlight to better understand the rare #NLGN3 variant they share. Now, Andrew advocates for housing, jobs & support for autistic adults. 💙 Read their story: sparkforautism.org/discover_artic…

🎉 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

Our @AutismBrainNet program has released genetic data for 23 new brain samples, with 273 samples available in total. Learn more about this data and how to access it: sfari.org/2025/06/09/aut… #science