Building a Second Animal Model of APBD and Proof of Concept for ASO as a potential cure

Research TeamUpdates

For the APBD patients diagnosed to date, two genetic mutations are found most often. One is an exonic mutation, and the other is an intronic mutation. Dr. Orhan Akman of Columbia University in New York has developed mice which carry the exonic mutation, and now he has proposed development of a mouse model that carries the intronic mutation.

Once a mouse model of the intronic mutation is developed, researchers from Columbia University and Ionis Pharmaceuticals envision developing a strand of nucleic acid that would reverse the mutation. This would bring about a cure for approximately 30% of patients currently diagnosed with APBD.

See our Winter 2014 newsletter about Dr. Akman and collaborating scientists’ discovery of the intronic mutation.

Why more mouse modeling? It’s vital that potential drug cures be tested for safety and efficacy on animal models before the US Food and Drug Administration permits a clinical trial with human patients. We have a proposal that possibly cures the intronic mutation, but work can't begin until there's a mouse model for testing.

Goal: $147,000.00

$75,890.00 raised