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we are

THE SPATA FOUNDATION

A Patient Organization for those affected by SPATA5(AFG2A) and SPATA5L1(AFG2B) Related Genetic Disorders

roadmap to a cure

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about us

We are a patient organization dedicated to serving families affected by SPATA5 and SPATA5L1 Related Disorders. These are rare genetic disorders characterized by epilepsy, hearing loss, and global developmental and intellectual delay.

Luca George SPATA5L1

our mission

The SPATA Foundation's Mission is to advocate, educate, and drive research for 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.

SPATA5 Anna
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jude van daalen  SPATA5

donate today

Rare diseases are often overlooked when it comes to research and funding due to the small populations they serve. This means advocating for research and funding said research falls to the duty of the rare disease families and organizations.

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We can't find a cure without your help. We will need MILLIONS.

George Family on Beach

our story

Meet Nicholas, Mariah, and Luca George. Luca was diagnosed with SPATA5L1 Disorder in February of 2023.

 

Although the diagnosis was an answer, they knew it wasn't the end. They refuse to accept there is no help.

 

The George Family has launched The SPATA Foundation as a passion project for Luca, but are dedicated to everyone affected by SPATA5 and SPATA5L1 Disorders..

partnerships

We are partners/members of these collaborative organizations!

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SPATA5 Rebeca
SPATA5 Wiktor
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DIAGNOSED SPATA5 & SPATA5L1 CASES

around the world

RED indicates SPATA5 families
BLUE indicates SPATA5L1 families

GREEN indicates known SPATA5 and/or SPATA5L1 Researcher

Last Updated: November 19, 2024

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help us find a cure

DONATE TODAY

The SPATA Foundation is on a mission to find a treatment that will enhance the lives of those affected by SPATA5 and SPATA5L1. 

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The science exists, but it takes time and money. 

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Your donation gets us one step closer.

SPATA5L1 Freddy
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