Palm Coast family launches non-profit dedicated to their son’s ultra-rare genetic condition and intends to drive research for a cure.
2023 was a tough year for The George family of Palm Coast. In February, Mariah and Nicholas George learned their son, Luca, has an ultra-rare genetic condition called SPATA5L1 Related Disorder. He is 1 of approximately 60 diagnosed world-wide. Luca has epilepsy, physical & intellectual disabilities, and hearing loss due to his condition. There was no patient organization and no known active research on the gene, so The SPATA Foundation was born.
The SPATA Foundation’s mission is to advocate, educate, and drive research towards a treatment for SPATA5 and SPATA5L1 Related Disorders. In an age of rapidly advancing science, the opportunities are there, but funding is a struggle.
A bioscience group out of Massachusetts is willing to perform a Drug Repurposing project for The SPATA Foundation. This project will take all current FDA-approved drugs and screen them against genetically modified tadpoles to determine if any drugs on the market can work as a treatment for the disorders.
With their process, a potential treatment could be found in as little as 5 months. The catch? It costs $90,000. Mariah and Nicholas George will go to the ends of the earth for their son and raise millions of dollars if that’s what it takes. Gene Therapy, the ultimate treatment for genetic conditions, would cost millions to create.
The Drug Repurposing project gives them a chance at a quicker and cheaper treatment option.
If funded, Luca, and others affected by these disorders, could receive treatment by the end of 2024, but they need funding.
The SPATA Foundation has launched an online fundraising campaign dedicated to the Drug Repurposing Project. They are also looking for any researchers that may be interested in helping to develop Gene Therapy.
“The science is there to change my son’s life. It just takes time and money.” – Mariah George
About The SPATA Foundation
The SPATA Foundation is a non-profit 501(c)(3) organization. All donations are tax deductible and will go directly towards funding a treatment for these ultra-rare conditions. Readers can learn more and donate at www.SPATAfoundation.org.
Media Releae: SPATA Foundation
