More About
The SPATA Foundation
Founded by parents of a child with SPATA5L1 Disorder, The SPATA Foundation is dedicated to advocating, educating, and funding research for SPATA5(AFG2A) and SPATA5L1(AFG2B) Related Disorders.
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Although different genes, mutations in SPATA5 and SPATA5L1 results in similar symptoms, and in some cases, have unfortunately taken lives. The founders decided it was in the best interest of those affected to unite the two communities.
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Our goals are to advocate for research, educate the public on the disorders, and fund research to better understand the function of the genes and hopefully a treatment.
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We also strive to provide community and support to SPATA5 and SPATA5L1 families across the world.
ourMission
The SPATA Foundation's Mission is to advocate, educate, and drive research for SPATA5 and SPATA5L1 Related Disorders.
ourVision
For doctors and researchers all over the world to be knowledgable of SPATA5 and SPATA5L1 and be a place of support for all those that have been and will be diagnosed with SPATA5 and SPATA5L1 Disorders
Board of Directors
Mariah George
President & Founder
Hana Deck
Board Member
Paige Orent
Board Member
Medical & Scientific Advisory Board
Michael Buszczak, PhD
Professor
Dept. of Molecular Biology
UT Southwestern
Tapas Mukherjee, PhD
Postdoctoral Fellow
Dept. of Immunology University of Tortonto
Michael Kruer, MD
Program Director
Barrow Neurological Institute Phoenix Children's
Barbara Vona, PhD
Principle Investigator
Institute of Human Genetics University Medical Center Göttingen
Luca's Story
The Reason for The SPATA Foundation
Luca was born full of light — a beautiful, happy baby who quickly became the center of our world. But as the months passed, we began to notice things weren’t quite right. Milestones were missed, development slowed, and questions turned into a long and exhausting search for answers. Like so many rare disease families, we entered a world of uncertainty, appointments, and waiting.
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Eventually, we received a diagnosis: two mutations in his SPATA5L1 genes. In that moment, everything changed. We were faced with something we had never heard of, with little information available, no clear treatment path, and no established community to lean on. It was overwhelming, isolating, and heartbreaking.
We quickly realized that if we wanted a different future for Luca and others like him, we couldn’t wait for someone else to build it. There was a critical need for research, for awareness, for connection between families, and for hope.
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That’s why we started The SPATA Foundation.
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What began as a deeply personal journey has grown into a mission to bring families together, accelerate research, and create real progress toward treatments. Every initiative, every connection, and every step forward is driven by Luca — and by the belief that these children deserve more.
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Luca is the reason we fight, the reason we hope, and the reason we won’t stop.
