We stand at a historic turning point where a cure for JoJo and kids like her is finally within reach, thanks to a convergence of powerful breakthroughs.
We have a proven roadmap for rapid development: Terry Pirovolakis showed how a parent can move mountains, assembling a research team, raising funds and developing a gene replacement therapy for a neurodevelopmental disease in just 2.5 years (Nature Medicine 2024).
We have gene therapy that can silence mutations: Multiple Antisense Oligonucleotides (ASOs) have been approved by the FDA since 2016.
We have a revolutionary gene-editing tool: Researchers at the Innovative Genomics Institute & CHOP successfully treated the first patient with personalized gene-editing treatment in the liver, developed in just 6 months (NEJM 2025).
And crucially, we know these specific therapeutic approaches work, as researchers have already demonstrated successful ASOs and gene-editing treatment for SCN8A in mice.
A cure for JoJo is the critical next step: taking a scientifically validated approach to the next frontier—the human brain. This is more than one cure; it’s a proof of concept that will unlock the door to treating an entire class of devastating diseases.
Scientists design gene therapy candidates (ASOs, base editor or prime editor) and design a guide RNA that acts as a "GPS" to guide the editor to the mutated area in the SCN8A gene.
1-2 months
$50,000
Blood samples from JoJo are induced into pluripotent stem cells (iPSCs), which are turned into neurons. Scientists test the gene therapy on these neurons to see if they can correct the SCN8A mutation, such as stopping seizures or correcting neurological deficits, with minimal unintended effects.
4-6 months (in parallel with next steps)
$250,000
A mouse is created with JoJo's mutation. Scientists package the gene therapy into a delivery vehicle (e.g. AAV9 or new variants) that can travel to the brain. This is given to SCN8A-diseased mice to confirm it can be delivered to the brain, correct the mutation, and cure the disease.
9-12 months (in parallel with prior steps)
$700,000
The gne therapy is produced in an FDA-compliant facility under Good Manufacturing Practice (GMP). The process starts with small-scale batches for preclinical safety testing, and the resulting data is used to gain approval for human trials before scaling up.
1-2 month (small batches in parallel with next step)
$2 - $2.5M
Official, large-scale animal safety tests are completed, as required by the FDA to confirm the gene therapy is safe for human testing.
3 months
$1.5 - $2M
Data from all prior milestones are compiled into a formal Investigational New Drug (IND) application and submitted to the FDA for approval
1 month (qualifies for Orphan drug designation)
$500,000 - $1M
Medical research is a complex journey with a non-guaranteed outcome. The costs listed are good-faith estimates based on quotes and standard industry costs for pre-clinical therapeutic development. They are subject to change as the project progresses. We are committed to complete transparency and will provide regular updates on how these funds are being utilized.