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SPATA5L1 Luca

THE SPATA
FOUNDATION

FOR SPATA5 & SPATA5L1 GENETIC DISORDERS

ALSO CALLED AFG2A AND AFG2B

The SPATA Foundation was created by a family affected by SPATA5L1, for those affected by SPATA5 and SPATA5L1 Disorders. 

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.

ABOUT THE SPATA FOUNDATION

Our mission is to advocate, educate, and drive research for 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.

SPATA5 Anna

FUNDRAISING 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 currently fundraising for a $90,000 drug repurposing project.

SPATA5 Jude

HOW YOU CAN HELP

There are many ways to support the work of The SPATA Foundation, from making a donation to sharing our story.

 

Click below to learn more about SPATA5 and SPATA5L1 Disorders, Our Story, or to make a Donation.

SPATA Foundation Circle Logo

NEWLY
DIAGNOSED

Recently diganosed? You're not alone. Having a child with a rare condition can feel isolating and like your world has been turned upside down. 

We know, because we've been there. We are you.

OUR STORY

This is the George Family. Their son Luca was diagnosed with SPATA5L1 Disorder in February of 2023. 

His parents have dedicated their time to start The SPATA Foundation to support others who have been exactly where they've been.

The George Family SPATA5L1

Our Partnerships

We are partners/members of these collaborative organizations!

SPATA Families Collage

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 80-100 people world-wide. SPATA5L1 has been diagnosed in approximately 40-60 people world-wide. We know there are more diagnoses to come.

FUNDRAISING

Our current goal is to invest in a drug discovery project for a treatment that will cost approximately $90,000.

YOU can help us reach our goal!

Freddy SPATA5L1

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. 

The science exists, but it takes time and money. 

Your donation gets us one step closer.

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