Why DYNC1H1?

This random-looking string of letters and ones is the name of a gene.

When a person or family receives a genetic report indicating a problem with their , it will say "Likely pathogenic variant in the DYNC1H1 gene". Common Names labeling the symptoms are SMA-LED, CMT-20, or Infantile Spasms and Epilepsy.

Worldwide, only about 300 individuals have been identified with DYNC1H1 gene variants. There are more out there, and we hope they find us. Are you one of them?

Our goal is to create a network of families, researchers, and medical professionals to support those affected financially and through treatments.

We can only do it with your support!! Our organization is composed of 100% volunteers, almost all of whom are parents of people with DYNC1H1 Variants, or who themselves have DYNC1H1 Variants. 100% of donations go towards the research and educational efforts.

DYNC1H1 Association Inc.

Creating research opportunities and support networks for those with DYNC1H1 gene variants

Let's Make some Models!