Accelerating research by collecting data/biosamples from ppl w/rare #genetic causes of #autism & other neurodev dis. Researchers can get data: bit.ly/SFARI_BASE
Joined July 2014
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31 Mar 2020
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.
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🎉 Today we celebrate #DDX3XAwarenessDay with our friends at The DDX3X Foundation - Research!
We’re proud to have 22 participants with DDX3X-related syndrome in #SimonsSearchlight. 🧬 Explore resources, research, and how to join our #DDX3X community:
🔗 bit.ly/SimonsSearchlight_DDX…
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The Simons Searchlight team recently came together w/ colleagues from Boston Children's Hospital & Geisinger for a retreat focused on collaboration & the future of rare disease research.
💜 Thanks to guest speakers Effie Parks and Marissa Mitchell for sharing their perspectives.
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💜 Your experience can inspire change.
Do you or a loved one live with a rare genetic neurodevelopmental disorder? 🧬 Share your story to help raise awareness and inspire others. Selected stories may be featured by Simons Searchlight.
🔗 bit.ly/ShareYourRareStory
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New resource available: Navigating Menstruation: Support for Caregivers of Individuals with Disabilities 💙
Expert-informed, caregiver-centered guidance on puberty, communication, common challenges, and medical considerations. 🩺 📘
🔗 bit.ly/Resource_Navigating_M…
#CareForRare
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📢 Researchers: PBMCs from Simons Searchlight are now available through SFARI Base for iPSC generation.
The new centralized application process makes it easier to request samples and advance research in rare genetic conditions.
Learn more: base.sfari.org/
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📚 Curious about the latest research made possible by families like yours?
Explore 139 lay-friendly research summaries on the Simons Searchlight Publications page.
🔗 bit.ly/Simons_Searchlight_Pu…
Note: Some findings are early and should be considered preliminary.
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🌸 Our Spring 2026 newsletter is here! Explore research updates, scientific outreach, community stories, family resources, and ways to stay connected with Simons Searchlight. 💙
Read now: bit.ly/Spring_2026_Newslette…
#SimonsSearchlight #RareDiseaseResearch
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💫 Meet Liz Spitzer, PhD, Co-Founder & COO of the DYNC1H1 Association.
“Find the people that understand this life.” 🩵
In our latest Leading the Way interview, Liz shares her rare disease advocacy journey & hopes for the #DYNC1H1 community.
Read more: bit.ly/Leading_the_Way_Liz_S…
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“Take it one day at a time, and it’s ok to feel all of your emotions.” 💙
Lindsay Allen shares her family’s journey raising Brock, her 17-year-old son with 16p11.2 duplication syndrome.
Read their story: bit.ly/Family_Story_Allens
#SimonsSearchlight #16p112Duplication
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💙 Every person counts, today and over time. Thanks to our amazing community, Simons Searchlight has reached 83,400 completed surveys! Your participation helps advance research on rare genetic neurodevelopmental conditions. 🧬
Complete pending surveys: bit.ly/Simons_Searchlight_Da…
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🧬💙 Our #SimonsSearchlight genetic counselors review genetic reports, answer community questions, and create lay-friendly resources & genetic condition guides to help families and advance research.
💡 SimonsSearchlight.org
#RareDiseaseResearch #CareForRare
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🎉 Major milestone for Simons Searchlight — we’ve reached 10,000 registered participants with genetic variants worldwide! 🌍🧬
Thank you to every family and individual whose continued participation powers research, deepens understanding, and helps shape future discoveries. 💙✨
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📢📽️ Have you watched our video that walks you through the registration steps for joining Simons Searchlight?
If you're new to our community or need a refresher on how to sign up for research, this video is for you.
Learn more: bit.ly/How_To_Register_Searc…
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💜 Today we celebrate #MEF2CAwarenessDay w/ our advocacy partners & #MEF2C families around the world! We have 264 participants w/ MEF2C-related syndrome in #SimonsSearchlight.
🌟 Explore gene info, reports, & resources:
bit.ly/MEF2CReport
#RareDiseaseResearch #CareForRare
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💜 Today we celebrate #MED13LAwarenessDay w/ our advocacy partners the entire #MED13L community! We have 285 participants w/ MED13L-related syndrome in #SimonsSearchlight.
🌟 Explore gene info, data, resources, & more:
bit.ly/SimonsSearchlight_MED…
#CareForRare #RareDiseaseResearch
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We want to hear from our community 💙 As young people w/ rare genetic conditions reach adulthood, families face important decisions & your experience can help guide others.
Share your story in our Understanding Pathways to Adulthood survey:
bit.ly/Transition_To_Adultho…
#CareForRare
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💜 Today we celebrate #ATRXSyndromeAwarenessDay with ATRX Research Alliance!
177 individuals with #ATRX-related syndrome are part of #SimonsSearchlight 🧬
🌟 Find gene info, data reports & support resources: bit.ly/ATRX_Simons_Searchlig…
#ATRXAwareness #ATRX #RareDiseaseResearch
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🌟 Did you know #SimonsSearchlight has a Community Advisory Committee (CAC)?
They help shape research, surveys & campaigns—ensuring participant voices are heard 💙
Meet the members 👇
bit.ly/Simons_Searchlight_CA…
#RareDiseaseResearch #CareForRare #PatientAdvocacy
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Great few days at the American Academy of Neurology Annual Meeting 2026! 🧠
The Simons Searchlight team was proud to exhibit and connect with clinicians and researchers about advancing rare genetic research.
💙 Families: your participation drives discovery.
#AAN2026 #Neurology
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💜 Today we celebrate #5pDeletionSyndromeAwarenessDay with @CDCresearch & 5P- Society! 94 individuals w/ 5p deletion (Cri-du-chat) are part of #SimonsSearchlight 🧬
🌟 Explore resources, reports & research:
bit.ly/5PDeletionReport
#5pminusawareness #RareDiseaseResearch
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