A Rare Genetic Disease

SMC1A related Developmental and Epileptic Disorder

X-linked variants in the SMC1A gene cause Loss-of-Function in gene expression. This always results in Developmental Impairment and almost always Intractable Seizures.

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What We Stand For?

Our Vision

SMC1A Foundation is a Non-Profit Organization with the vision to bring awareness, accelerate research, and find a cure for SMC1A related Developmental and Epileptic disorder.

Our Mission

Our mission is to build and sustain an active SMC1A research pipeline focused on developing meaningful and effective treatments through innovative therapeutic approaches and emerging precision medicine strategies aimed at improving the lives and long-term outcomes of individuals affected by SMC1A disorders.

Our community

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European Chapter

SMC1A Foundation has a chapter in Europe, led by Daniele Ciampa in Pisa Italy. Daniele works together with Dr. Antonio Musio (CNR Institute of Genetics and Biometical Research in Pisa, Italy).

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Contact Us

info at smc1a-epilepsy.org

SMC1A Foundation is a designated 501(c)3 charitable organization, registered with the IRS under its Federal Employer ID Number EIN 84-3406755, using its official legal name SMC1A Foundation.

Tax ID #: 84-3406755

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