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.

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 develop an ongoing active sustainable SMC1A research funnel with the focus on effective treatments and cure.

The goal is to start research into SMC1A on model organisms and animal models to get a more comprehensive understanding of the gene function and expression.
And from there, develop appropriate research objectives that will expand the research to curative areas such as testing Small Molecules, ASOs, and Gene Therapies if found appropriate.

Our community

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).