Fulfilling a $15,000 donation match could cut years off our search for a cure.

🚨 BREAKING: We’ve been offered a $15,000 match to help us in our race to a cure for DYNC1H1-Related Disorders!

Every dollar you give to the DYNC1H1 Association now DOUBLES through our $15,000 matching gift! A generous donor will MATCH every dollar you give - up to $15,000 - to create iPSCs, vital research tools needed to find a cure for DYNC1H1-Related Disorders. Your donation doubles instantly, making sure we can get these vital tools into scientists' hands in 2025!

WHY DO WE NEED iPSCs? What’s so Important about this research tool?

• iPSCs let scientists use blood from a DYNC1H1 patient and turn them into stem cells, which means we can study exactly how that person's unique genetic code affects nerve cells in a lab dish without putting patients at risk.
• Instead of waiting years to understand how DYNC1H1 affects nerve development, researchers can watch these special stem cells become nerve cells in real-time, showing us exactly how and when things go wrong.
• Because children with DYNC1H1-Related Disorders have different symptoms and severity levels, iPSCs let scientists study each patient's unique genetic changes to understand why this happens and how to help.
• With well fewer than 10,000 known cases of DYNC1H1-Related Disorders worldwide, iPSCs let scientists make unlimited copies of affected nerve cells from just a few brave patients to study potential treatments.
• One DYNC1H1 iPSC line can be used to test over 1,000 potential treatments at 1/10th the cost of traditional drug testing methods - bringing us closer to helping children with this rare disorder walk, move, become more medically stable and thrive!

iPSCs have been vital in finding treatments for multiple similar diseases, and with your help to fulfill this generous match, the DYNC1H1 Association will be following in their footsteps. Help Us Get to Treatments. Donate today!

• UCSF scientists took skin cells from Familial Dysautonomia patients and turned them back into iPSCs. Then they grew these into nerve cells, testing 6,000 drugs on them at once! They found that the medicine ethosuximide protected the nerve cells and now it's being tested in patients (Zhang et al., 2013). With our $15,000 match, we'll be able to create DYNC1H1 iPSC lines to test thousands of drugs too! 🧬

• For Rett Syndrome, scientists used iPSCs to create tiny clusters of brain cells in the lab. These 'mini-brains' called “organoids” showed exactly how Rett affects neurons and helped identify drugs that could fix the problems they saw (Trujillio et al., 2020). Like a window into the disease, iPSCs let researchers watch what's happening and test how to fix it. Help us create this window for DYNC1H1 Related Disorders!

• Scientists at the University of Alabama created heart cells from Friedreich's Ataxia patients using iPSCs. These cells had the exact same problems as the patients' hearts - but in a dish where they could safely test thousands of drugs! They found potential treatments in months instead of years (Filetto et al., 2024; Schreiber et al., 2022).

• Scientists are using iPSCs created from Duchenne Muscular Dystrophy patients to develop and test gene therapies. This is exciting for DYNC1H1-Related Disorders because the gene for Duchenne’s is one of few that is longer than DYNC1H1. The longer the gene, the more difficult it is to deliver a gene therapy to cells. They turned patient skin cells into muscle cells and are figuring out how to make a drug that gets the Duchenne’s gene working right (Cappella et al., 2021)!

• Cedar-Sinai scientists used iPSCs to solve a mystery in spinal muscular atrophy (SMA). By creating motor neurons from patient cells, they discovered these neurons don't just die - they develop incorrectly from the start. This led to new treatment strategies targeting early development (Fuller et al., 2020)! For DYNC1H1, iPSCs could reveal exactly when and how nerve cells are affected, showing us the best ages to treat, and why the disorder can vary so much depending on an individual’s genetic makeup.

Your gift DOUBLES today! 🔬 #CuresCantWait #DYNC1H1 #RareDisease #iPSCellResearch

Just like iPSCs revolutionized research for Friedrichs Ataxia, SMA, Rett Syndrome, Duchenne Muscular Dystrophy, and other rare diseases, these cell lines will accelerate our search for treatments, and possibly cut years from our drug development pipeline.

The DYNC1H1 Association will never stop fighting for our community and working towards safe treatments. With your help and our dollar-for-dollar match, we have the opportunity to create up to three DYNC1H1 iPSC lines with our industry partners - giving researchers the tools they need to find treatments while being inclusive of the diverse symptoms our patients deal with every day.

Every dollar helps, and until the $15,000 is reached, your impact is DOUBLED! Join our mission to cure DYNC1H1-Related Disorders. Give today. 💪🔬 #DYNC1H1 #RareDisease #iPSCellResearch