We’re working towards a world where anyone with a DYNC1H1 variant has a safe and effective treatment. Join us as we work together to make this a reality.

Our Mission

  • Create research opportunities with a continuous focus on translatable research that can bring discoveries from the lab to the patient with the goal of low-risk, high-reward treatments.

  • Within the diagnosed persons, provider, and outside community by hosting educational talks and support groups.

  • Living with an ultra-rare disorder like a DYNC1H1 variant can be lonely and isolating. Our grounding ethos is to meet the needs of the patient and their family. We’re here to listen and to help.

DYNC1H1

  • This random-looking string of letters and ones is the name of a gene. When a person or family receives a genetic report, 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.

    DYNC1H1-Associated Neurological Disorders, DAND, can cause a wide variety of symptoms, from debilitating and life threatening to mild physical challenges and ADHD. Every person with DAND is different, but we are here for everyone.

  • Worldwide, there are an estimated 300 people living with DYNC1H1 Associated Neurological Disorders (DAND), with about 150 variants documented in the literature as of 2020. Many people present with vary different symptoms, so until a genetic test called “Whole Exome Sequencing” became more common around 2015, few individuals were ever diagnosed.

    Some adults only received a diagnosis alongside their children, and others had a cerebral palsy or other diagnosis. For this reason, we encourage caregivers and individuals with intellectual disability, autism, neuropathy, hypotonia, and epilepsy to seek out genetic testing.

    To let us know about your variant and symptoms, register your information here.

  • No. While some individuals have been diagnosed with a rare form of spinal muscular atrophy called SMA-Lower Extremities Dominant, the treatments for SMA (zolgensma, Spinraza) do not act on the DYNC1H1 gene, so are not effective. Donate to support our path to a cure.

    We are aggressively pursuing multiple leads to change this.