The SPATA Foundation's Mission is to advocate, educate, and raise funds for research towards SPATA5 and SPATA5L1 Related Disorders. Our hope is that our efforts will help us better understand the function of the genes & lead to treatment for disorders related to these genes.
ABOUT THE SPATA FOUNDATION
Our mission is to advocate, educate, and raise funds for research towards SPATA5 and SPATA5L1 Related Disorders, rare genetic disorders characterized by epilepsy, hearing loss, and global developmental and intellectual delay.
After their son Luca was diagnosed with SPATA5L1, Mariah & Nicholas George realized there just wasn't any resources out there for SPATA5 or SPATA5L1 families and no one dedicated to research.
So, the family started The SPATA Foundation and are looking for scientists to get on board for research.
The SPATA Foundation is interested in partnering with researchers to create studies to better understand the function of SPATA5 and SPATA5L1 so we can make progress towards a treatment for SPATA5 and SPATA5L1 Related Disorders.
We're fundraising to support future research efforts.
We don't have a current funding goal, but want to begin raising money NOW so we are prepared for future opportunities.
OUR SPATA FAMILY
Although the number of those diagnosed with SPATA5 and SPATA5L1 is little, our SPATA Family is strong. There are amazing children with SPATA5 and SPATA5L1 across the world that we're working hard to find a treatment for. SPATA5 has been diagnosed in approximately 50 people world-wide. SPATA5L1 has been diagnosed in approximately 60 people world-wide. We know there are more diagnosis to come.