The DYNC1H1 Association (DA) is a non-profit patient advocacy group
Our mission is creating safe, effective, and accessible treatments for all individuals with DYNC1H1 disorders.
We envision a world where anyone with a DYNC1H1 Variant has a safe & effective treatment.
Our Mission:
Create opportunities for research on DYNC1H1 with a constant drive towards low-risk, high reward treatments.
Our Commitment:
Forge networks of support within the diagnosed persons, providers, and researchers to make the wait easier.
We need your help to follow our path to a cure.
If you or your child have DYNC1H1 Variants, join our Patient Registry so that we can stay in contact and ensure we are addressing the needs of all individuals with DYNC1H1 related disorders.
Join Simons Searchlight to help us be ready for clinical trials once likely treatments are found.
Share your story and be featured as a “Patient of the Week” on our Social Media. Email contact@dync1h1.org
Donate or create a fundraising team to support our research efforts.
For more information on how to get involved and our goals, go here.
The DA is run by volunteers whose children have DYNC1H1 - Related Disorders, along with an incredible Scientific Advisory Board. The SAB includes clinicians and researchers who are experts in DYNC1H1, dynein (the protein product of the DYNC1H1 gene) & cellular trafficking, epilepsy, and neurological disorders. With this expert guidance, we are making strides towards cures for DYNC1H1 Disorders.
The DA has also cultivated key partnerships with complementary organizations. These organizations include other rare disease networks, research-enabling organizations, and groups with expertise in building clinical trial readiness.
Meet the Founders
Lisa Costen, MS
Founder & President
Brettne Frewin
Founder & CFO
Liz Spitzer, PhD
Founder & COO
Our Partners
The DA’s Scientific Advisory Board
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Erika Holzbaur, PhD
Researches the dynamics of organelle motility, particularly autophagy, along the cytoskeleton in cells.
University of Pennsylvania
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Morgan DeSantis, PhD
Researches mechanisms of how microtubule associated motor proteins like dynein transport cellular cargo.
University of Michigan
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Hormos Salimi Dafsari, MD
Pediatric Neurology and Center for Rare Diseases at University Hospital Cologne and Max-Planck-Institute for Biology of Aging
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Steven Markus, PhD
Researchers how cellular cargos are delivered to the right place at the right time
Colorado State University
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Christelle Moufawad El Achkar, MD
Epilepsy Center, Department of Neurology, Boston Children’s Hospital
Instructor of Neurology, Harvard Medical School
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Kellen Winden, MD, PhD
Neurologist, Department of Neurology, Boston Children’s Hospital
Instructor of Neurology, Harvard Medical School
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Majid Hafezparast, PhD
Researches underlying molecular mechanisms of neurodegenerative diseases, in particular motor neuron disease.
University of Sussex, Brighton, UK
Interns
Peculiar Onyewuchi
Science Communication Intern - Fall 2026
Peculiar is pursuing her degree in Human Physiology at the Federal University of Technology, Owerri. Her academic training centers on physiology, cellular mechanisms, and genetics. She has also completed advanced training in Molecular Foundations in Medicine. Peculiar also brings significant experience in rare disease advocacy through her work on Congenital Central Hypoventilation Syndrome, international debate, and competitive science writing.
Maya English
Science Communication Intern - 2026
Maya has studied Biology at Carnegie Mellon University in Pittsburgh. After getting her bachelor’s, she moved to National Institutes of Health and did two years of full-time research into the ubiquitin proteasome system. Now, she is back in Pennsylvania getting her PhD at the University of Pennsylvania, studying mechanisms of neuronal health and neurodegeneration. Outside the lab, she loves baking, getting involved in Philly’s art scene, and watching bad TV.
Ahuva Sheinson
Science Communication Intern - Fall 2026
Ahuva Sheinson is a biology graduate from Yeshiva University, currently working as a Patient Care Technician at Atlantic Health Hospital Systems. Ahuva is passionate about providing care and support for patients and all those around her. She is a prospective applicant for genetic counseling programs and is eager to support the DYNC1H1 Association and the greater DRD patient community through her internship this fall.
Caroline Barabell
2026 Orphan Disease Center’s Genetic Counseling Student Exchange (GCSX)
Caroline Barabell graduated from the University in Michigan in 2023 with a degree in Molecular, Cellular and Developmental Biology. Before joining Penn’s MSGC program, she worked as a Clinical Research Coordinator in the Division of Gynecologic Oncology at Dana-Farber Cancer Institute. She is excited to be working with the DYNC1H1 Association to learn more about advocacy in the rare disease community and how she can best support these families.
Amish Bhatnagar
Science Communication Intern - Summer/Fall 2026
Amish is a senior at UC Berkeley studying Molecular and Cell Biology with a concentration in Cell Biology, Development and Physiology. In the lab, he studies the molecular mechanisms underlying the auto-inhibition of a motor protein, giving me the opportunity to explore how motor proteins function and contribute to our understanding of neurological disease. He’s passionate about bridging science and the patient community through clear, meaningful communication.
Our Families Need You!
Without your generous help, we cannot make this world an easier place for those with DYNC1H1-associated neurological disorders. This is an urgent plea from a community living with a debilitating and degenerative disease. Please help us by donating today.
Contact Us
Want to get in touch? We’re a small organization always interested in new partnerships, volunteers, and simply getting to know our community. Send us a note in the contact form, email, or write!
Contact@dync1h1.org
PO Box 834
Orange, CT 06477 USA