Posts

Leading the Way: An Interview with Liz Marfia-Ash

Liz brings positivity and support to families with GRIN2B. Learn more about her advocacy.

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Everleigh’s Story Living with SMARCA4

Learn more about Everleigh’s story.

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Researcher Profile: Trina Geye, Ph.D.

We interviewed Dr. Geye about her research projects and collaboration with Simons Searchlight.

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TJ’s Story Living with SETD5

Learn more about TJ’s family story.

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A Family Guide: Navigating Life After a Rare Genetic Diagnosis

The guide covers the path from genetic diagnosis to accessing resources and treatments.

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Call for Applications to Join Community Advisory Committee

Share your voice and submit your application to join our CAC!

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Dr. Thomas Frazier’s Webcam and AI Study Drives Discovery

Learn more about Dr. Frazier and his innovative study using webcams and AI.

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Researcher Profile: Nicolò Pini, Ph.D.

We interviewed Nicolò Pini about his research projects and collaboration with Simons Searchlight.

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Hadley’s Story Living with SYNGAP1

Learn more about Hadley’s family story.

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New Quarterly Reports – August 2023

The latest report includes updated information on 37 genetic communities.

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