Cure Rare Dynamos
You can set up recurring or make a one-time donation to the foundation. Every dollar matters to cure our dynamos!
Tax receipts will be issued and mailed by our fiscal sponsor - Rare Village Foundation in Texas, United States.
What your donations will unlock:
Your donations help support our patient organization. Our goal is to support expanding therapies for the DNM1 Developmental Epileptic Encephalopathy. The disease mechanism is fairly understood, and multiple strategies are in development.
Mutations in the dynamin-1 gene (expressed in the brain and retina) lead to epilepsies detected before children turn 1. Main symptoms include seizures, developmental delay, autism, and hypotonia.
Research projects are translation focused, vetted by experts in the field and all donations go through Rare Village Foundation (our fiscal sponsor EIN 83-4699994) accounting operations which only pay out to official signed contracts, MTAs and invoices from our partnering organizations.
Therapeutic strategies in testing phase are self-funded by well-recognized institutions in the US, Canada and UK including 3 allele-specific RNA therapies, one base editing program and one splice-switching RNA therapy. We started 2 humanized mouse models (the first ever for the disease) at Jackson Laboratories in Maine and 1 iPSC neuronal and retinal cells lines (the first ever outside of China) in Canada (my daughter's),
where do we need help today is as follows:
1. Support to hire a part-time remote administrator to help with the below projects.
2. Support to organize our first patient research and therapeutics conference in the US (we aim to minimize the cost by collaborating with another patient organization to host at the same time as their annual conference)
3. Support in building campaigns to increase awareness through carefully crafted marketing strategies and educational material.
3. Support in reaching out and finding patients worldwide and building our registry. We are currently collaborating with Citizen Health. Volunteers are working to find patients across the globe. We are working with volunteers in Japan and China to expand our network there. Our next project is to expand in LATAM.
4. Support a long-read sequencing campaign that aims to screen our dynamos. This will help us identify children with sequences or SNPs that may match the RNA therapies in development which will help expand the use of these therapies from n of 1 to "n of many".
5. Support generating iPSC cell lines for most recurrent variants (we have 2 variants that constitute the majority ~50% of cases)
6. Upcoming: Support a research project with a biotech company to help us identify an RNA strategy that can treat all variants that are amenable to splice-switching strategies. (Middle domain variants which are the most severe and have lowest survival rates)
7. Upcoming - Natural History Studies - currently awaiting FDA grant feedback through one of the top hospitals in the US and which if approved, your donations will help us support getting patients to the clinical site.
Should you have any queries, please do not hesitate to reach out to me at sali@dnm1epilepsy.com
Thank you in advance for your support
Sumaya
Rare dynamo mom