DYNC1H1 Association’s Research Network
Do you have a patient with a DYNC1H1-Related disorder? Do you research cytoplasmic dynein, dynactin, adaptors or intracellular trafficking? We welcome clinical, translational, basic, and industry researchers to join our multidisciplinary network.
The DYNC1H1 Association cultivates relationships with scientists, medical professionals, and industry partners in the hopes of accelerating research towards meaningful treatments for those affected by DYNC1H1-related disorders.
We can offer contact with patients with a variety of phenotypes and genotypes from across the globe. As of July 2025, there are 215 patients from 37 countries included in our Patient Contact Registry. Ages of patients range from 0 to 72.
In addition, our partnership with Combined Brain includes use of their expansive biorepository abilities, enabling us to collect a variety of patient samples “on demand”. For more information, visit CombinedBrain’s Biorepository page.
The COMBINEDBrain Biorepository also has patient derived iPSC available, with Variant: c.6989 G>A, p.(G2330E). The Patient has 3 years of medical and developmental data with Simons Searchlight. Another isogenic line will be coming soon. Make sure to register for our Research Network to be notified once it’s ready.
How does the DA collaborate with researchers?
We welcome all researchers & clinicians - new or experienced- who want to contribute to this significant work. We are especially interested in those with young careers or in training across the globe.
Join our research network!
As a part of our research network, you will receive invitations to participate in and be a keynote speaker at our Scientific Roundtables, as well as meaningful updates about other organizational events and opportunities for engagement, and we will promote any research opportunities to our patient community. Our community is highly motivated to participate in research, resulting in a 10 fold increase in key study sizes after only two years.
DYNC1H1-related disorders are complex, degenerative, and often disabling. Many patients see doctors who can’t offer clear answers, and getting a diagnosis can be a long, challenging journey—often requiring individuals or families to push through a system not equipped to handle ultra-rare diseases. Researchers in all fields provide hope that families are less alone. Join us to make a difference today.
Already a part of our research network and want an easy way to book a meeting with us? Visit our booking calendar, here or email us at Contact@dync1h1.org
Resources from Dynein Meeting 2025
We thank Morgan DeSantis and the rest of the Dynein Meeting 2025 for inviting us to participate. Below are the slideshow and poster presented by the DA.
Looking for more information on Gene Variants present in our registry? Send us an email with your request: contact@dync1h1.org