Simons Searchlight

Accelerating research by collecting data/biosamples from ppl w/rare #genetic causes of #autism & other neurodev dis. Researchers can get data:

[Simons Searchlight @s_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.

[Simons Searchlight @s_searchlight]

❓ Have questions about joining #SimonsSearchlight?

Our long-term research helps scientists understand how rare genetic conditions change across the lifespan. 📊

Explore our FAQs on surveys, privacy, genetic testing, registration, and more!

📚 https://t.co/Xn9Y0puLtY

[Simons Searchlight @s_searchlight]

💙 Meet the Oakleys!

Kimberlee and her son James share the same #ANK3 genetic variant but have very different experiences. Their story highlights the importance of research, advocacy, and hope for better quality of life.

✨ Read their story: https://t.co/sOL78XN37d

[Simons Searchlight @s_searchlight]

🌎 New Simons Searchlight Quarterly Reports are here! 📊

94 genetic communities now have reports, including 7 receiving their first! 💙

Thanks to families and advocacy groups for helping advance rare genetic research through continued participation.

🔗 https://t.co/qpXd2haZ9B

[Simons Searchlight @s_searchlight]

🌟 Our updated Transition to Adulthood resource page is here!

Find resources to help navigate adulthood, plus guidance on the Transition to Adulthood Survey and adult consent to continue participating in Simons Searchlight.

💛 Learn more: https://t.co/jv5elpLcBI

[Simons Searchlight @s_searchlight]

🧬 Simons Searchlight has surpassed 10,800 registered participants!

Long-term participation helps researchers understand how rare genetic conditions change over time. 💙

Already registered? Log in to your dashboard & keep your information up to date ➡️ https://t.co/Z8Mq9fIXOV

[Simons Searchlight @s_searchlight]

🧡 Meet the Hoyrup family! Aude shares life with his daughter Elsa, who lives with #CTNNB1-related syndrome, and why their family participates in research.

“I fill in each [research] survey and I wish all families would do the same.”

🔗 Read their story: https://t.co/VRRTDEjs9l

[Simons Searchlight @s_searchlight]

🎉 Today we’re celebrating #CACNA1CAwarenessDay!

Thank you to the 22 families registered with #SimonsSearchlight whose participation helps move CACNA1C research forward.

Explore GeneReviews, condition guides, advocacy resources & more: https://t.co/YINwVTo9bF 💛

#CACNA1C

[Simons Searchlight @s_searchlight]

🧬 Already have a CRID? Add it to your Simons Searchlight account under Account Settings: https://t.co/Z8Mq9fIXOV

Don’t have one yet? Create your CRID at https://t.co/NacwLmPP3h, then add it to your account.

#RareDiseaseResearch #CRID #SimonsSearchlight

[Simons Searchlight @s_searchlight]

📚 Your participation moves research forward!

Simons Searchlight data has contributed to 144 scientific publications—helping researchers better understand rare genetic neurodevelopmental disorders.

🌐 Explore our lay-friendly summaries: https://t.co/86vpUOw39r

[Simons Searchlight @s_searchlight]

💙 Happening TODAY at 12 PM ET!

Join Simons Searchlight and Carole Bakhos of 2villages for an interactive Zoom conversation on caregiver support, resources, and connection.

Register: https://t.co/xMjx8HYmcK

#SimonsSearchlight #CaregiverSupport

[Simons Searchlight @s_searchlight]

🧬 Why does long-term research participation matter?

Annual surveys help researchers understand how rare genetic conditions change with age and contribute to research that could lead to better treatments and support. 💙

Complete your surveys: https://t.co/Z8Mq9fIXOV

[Simons Searchlight @s_searchlight]

🧬 Looking for info about a rare genetic condition?

Explore gene guides for all 187 conditions we study, developed by our genetic counselors using current medical literature. Available to everyone, whether or not you participate in our research! 💛

🔗 https://t.co/qpXd2haZ9B

[Simons Searchlight @s_searchlight]

🎉 Happy #KleefstraSyndromeAwarenessDay! Together with Kleefstra syndrome Community and IDefine, we celebrate 54 participants registered in #SimonsSearchlight, helping strengthen rare disease research. 💛

Explore resources, data reports & more: https://t.co/2RPQTX9pxM

[Simons Searchlight @s_searchlight]

Simons Searchlight is hitting the road this fall!

CNS | Montréal | Oct. 14–17
NSGC | Baltimore | Nov. 10–14
AES | Denver | Dec. 4–8

PAGs, researchers & clinicians—stop by and say hi! We’d love to connect and share the latest from Simons Searchlight. 💙

[Simons Searchlight @s_searchlight]

Great week at #GlobalGenesRDDS! We learned how PAGs are partnering across registries, academia, biotech & pharma to move rare disease research forward—and hosted a fireside chat with Dr. Wendy Chung on strengthening Simons Searchlight’s role in the broader research ecosystem. 💙

[Simons Searchlight @s_searchlight]

🌟 Reminder! Join us Sept. 24 at 12 PM ET for a free webinar with Carole Bakhos, founder of 2villages, caregiver, certified coach & advocate, sharing practical support for families. 💙

🔗 https://t.co/xMjx8HYmcK

[Simons Searchlight @s_searchlight]

🎉 We’re celebrating #STXBP1AwarenessMonth with the STXBP1 Foundation and communities worldwide!

Thank you to the 320 registered families in #SimonsSearchlight helping power STXBP1 research. 💛

Explore data, resources & more: https://t.co/XEY2JdQo3K

#STXBP1 #CareForRare

[Simons Searchlight @s_searchlight]

📢 Planning an upcoming conference or community event?

Our Event Planning Toolkit, created with Global Genes, offers practical templates, tips, and resources for patient advocacy organizations.

🎉 Explore the toolkit: https://t.co/4P4nIdAyD3

#PatientAdvocacy #CareForRare

[Simons Searchlight @s_searchlight]

💛 September 5 marked #SETD5AwarenessDay!

We’re celebrating the 102 SETD5 participants registered with Simons Searchlight who are helping strengthen research. Thank you to every family making this progress possible!

Explore SETD5 resources and reports: https://t.co/Rvfd8VY94J

[Simons Searchlight @s_searchlight]

💜 Your experience can inspire change.

We’re inviting individuals and families affected by rare genetic neurodevelopmental disorders to share their stories 🧬 Help raise awareness, build community, and inspire others.

Share your story: https://t.co/37tE8NjZ5Y