Dync1h1 Association

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Orange, CT
Dync1h1 Association

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Mission: Create research opportunities & support networks for those with DYNC1H1 gene variants.

09/29/2026

The DYNC1H1 Association is proud to continue partnering with DEEP and excited to celebrate this next chapter with them. 💜

Formerly DEE-P Connections, DEEP has spent the past several months listening to families, clinicians, researchers, advocates, and partners to help shape what comes next for developmental and epileptic encephalopathies (DEEs) and other severe neurological impairments(SNIs).

This new change reflects:
✨ A new name and brand ✨ A new five-year Strategic Plan ✨ A completely redesigned website ✨ A bigger vision for connecting and supporting the community

The mission hasn’t changed. The vision has grown.

Explore what’s new at www.dee-p.org

09/23/2026

3rd Annual Puzzles for Piper Recap 🧩🧬

A huge thank you to our co-founder, Brettne Frewin, and the Houston community!! The 3rd Annual Puzzles for Piper raised almost $28,000 for the DYNC1H1 Association! We are incredibly grateful for the support, and every penny of this total goes directly to help us further our mission of finding safe, effective treatments for DYNC1H1-Related Disorders!

Thank you to every person who attended, donated, sponsored the event, and volunteered! We had over 50 teams compete in the 500 piece, 30 piece, and junior divisions!

Special shout out to New York Life Houston General Office and Memorial Hermann Children’s Pediatrics Sugar Land for providing refreshment and to Dr. Kristin Schmidt MD, OB/GYN + Aesthetics for being the title sponsor again this year!!

We hope to see you next year for another incredible for DYNC1H1 Research!

09/14/2026

📣 More Big News!! Erika Holzbaur’s lab at UPenn is currently studying two addition DYNC1H1 iPSC lines! Watch PhD Student, Maya English, receive these cells and explain some basics!

In addition to the patient-derived iPSC line we shared that is being studied at University of Michigan, we also have TWO Isogenic induced pluripotent stem cell (iPSC) lines. Isogenic iPSCs are pairs or panels of stem cell lines that share an identical genetic background except for a specific, targeted genetic mutation. Using isogenic sets allows researchers to isolate and compare the effects of different variants within the same genetic background. Isogenic models are particularly valuable for mechanistic studies, target validation, and high-throughput drug screening, where reproducibility and precision are essential. The two lines created represent known variants in DYNC1H1 patients from varying regions of the gene with two different phenotypes.

These lines were fully funded by the DYNC1H1 Association and would not have been possible without the generous donations from our community. We are so excited to be making this progress towards drug-repurposing and drug development!

09/03/2026

The DeSantis Lab at University of Michigan has been busy studying our first patient-derived iPSC!

Juliana Zang, PhD and Ashley de Borchgrave, PhD Candidate are featured in these photos and shared a synopsis of their work:
Since dynein is heavily involved in neuronal cell migration and intracellular transport in mature motor neurons, we are differentiating the patient-derived iPSCs into both migratory neuronal progenitor cells and induced motor neurons. Then, we will use these neuronal progenitor cells and motor neurons to probe the cellular cause of the dynein-driven patient symptoms, with live imaging and biochemical techniques. Ideally, we want to characterize many patient variants to begin associating symptoms with causative dynein deficiencies (overactive, inactive, improper complex formation, decreased microtubule affinity, etc.). Once we understand how different dynein variants disrupt cellular function, we can identify therapeutic targets and test potential drug interventions. This last step is one of our ultimate goals, but it will take time. Science moves very slowly.

This research is only possible due to the generous donations we have received and the tireless work of our research partners, such as Dr. Morgan DeSantis and her lab. We are so grateful for our community and our research partners for their support!

08/26/2026

We 💜 our partners like DEE-P Connections, and highly encourage our community to follow their pages and utilize their resources.

For this event, courageous, experienced caregivers will be sharing their experiences with seizure medications in their medically complex children. Register today!

08/06/2026

One of our biggest annual fundraisers is coming up in Houston, Texas! Join us for an exciting puzzle competition that helps us support research to find safe, effective treatments for DYNC1H1-Related Disorders (DRD). Join us in person, share online, or donate today!

07/21/2026

300 Patients Registered!!

This is a huge milestone! We are so grateful for each person for being a part of this organization and community. By joining our registry, you will get updates about research progress, research opportunities, community events, and more! In addition, when you join the DYNC1H1 Association’s Patient Contact Registry, you will have the opportunity to connect with others from your geographical region or with the same variant (as long as all parties consent)!

Our mission is to fund research on safe, effective treatments for DYNC1H1-Related Disorders. Together, we can move this research forward! Thank you for joining us in this critical mission!

07/20/2026

Save the Date for The First Annual DYNC1H1 Association Family & Scientific Conference

🗓️When: Friday, June 11 and Saturday, June 12, 2027
📍Where: Children’s Hospital of Philadelphia (CHOP) in Philadelphia, PA USA.
 Stay tuned for more information on speakers, travel arrangements, registration, and more!

The goal of this conference is to bring together patients, their families, clinicians, and researchers to help accelerate our plan for a cure.

07/01/2026

Join us in Houston, TX on Saturday, August 15th 2026 for a jigsaw puzzle competition to support research into DYNC1H1-Related Disorder (DRD).

Register at: www.dync1h1.org/fundraising

06/29/2026

Want to learn more about iPS Cells? Watch Maya English, DYNC1H1 Association Science Communication Intern, as she explains the basics of iPSCs!

The DYNC1H1 Association has funded the creation of 3 iPSC lines that are available to our researchers!

Maya is a PhD student in the Perelman School of Medicine at the University of Pennsylvania, studying mechanisms of neuronal health and neurodegeneration.

Address

PO Box 834
Orange, CT
06477

Website

http://www.dync1h1.org/

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