Dync1h1 Association

Dync1h1 Association Mission: Create research opportunities & support networks for those with DYNC1H1 gene variants.

One of our biggest annual fundraisers is coming up in Houston, Texas! Join us for an exciting puzzle competition that he...
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!

300 Patients Registered!!This is a huge milestone! We are so grateful for each person for being a part of this organizat...
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!

Save the Date for The First Annual DYNC1H1 Association Family & Scientific Conference🗓️When: Friday, June 11 and Saturda...
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.

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

This week’s patient spotlight is Augusto!Read about Augusto’s journey in our newest blog post: www.dync1h1.org/stories/a...
06/17/2026

This week’s patient spotlight is Augusto!

Read about Augusto’s journey in our newest blog post: www.dync1h1.org/stories/augusto

Here is an excerpt:
My name is Kamila, and I am Augusto’s mother. We live in Brazil.

Augusto is currently 1 year and 3 months old. Our journey began very early. After he was born, a brain MRI revealed several significant findings, including agenesis of the corpus callosum, absence of the septum pellucidum, and cortical dysplasia. These findings led us to begin a long search for answers and a better understanding of what they could mean for our son’s future. After many medical appointments and genetic testing, we received the diagnosis of a DYNC1H1 genetic variant……

When Augusto was 5 months old, we faced another unexpected challenge: he was diagnosed with cataracts. He underwent surgery to correct them and currently wears glasses. It was a difficult time for our family, but he handled everything with incredible strength.

Augusto has developmental delays and faces challenges in his daily life, but he is also a very happy, loving, and determined little boy. Every achievement is celebrated by our family. What may seem like a small milestone to others is a huge victory for us.

To read more, please check out the recent blog post!

Check out a blog summary of one of the first articles on SMA-LED presentation in DYNC1H1 (from 2015). This summary was w...
06/16/2026

Check out a blog summary of one of the first articles on SMA-LED presentation in DYNC1H1 (from 2015). This summary was written by one of our summer interns: Amish Bhatnagar, an undergraduate student at UC Berkeley.

Read more here: https://www.dync1h1.org/research-updates/sma2015

06/16/2026

💫 Meet Liz Spitzer, PhD, Chief Operating Officer and Co-Founder of the Dync1h1 Association.

“My greatest advice as a parent caregiver is to find your people. Find the people that understand this life and are walking on similar journeys.” 🩵

In our latest Leading the Way interview, Liz reflects on her journey into rare disease advocacy, lessons in leadership, and the meaningful progress the DYNC1H1 community is making to advance research and support families.

📖 Read her story: https://bit.ly/Leading_the_Way_Liz_Spitzer

Thanks to you and our incredible community, our Second Annual Taking Steps Toward Treatment raised $25,950 for research ...
06/08/2026

Thanks to you and our incredible community, our Second Annual Taking Steps Toward Treatment raised $25,950 for research to find safe, effective treatments for DYNC1H1-Related Disorders!

Highlights:
$25,950 Raised
15 Teams (of which 10 raised over $1,000)
284 Supporters
Donations from $1 to $1,000
Friends walking from Argentina, Canada, Czechia, Italy, Netherlands, United States and more!

Every donation, every post, every step made a difference! Thank you!!

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PO Box 834
Orange, CT
06477

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