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SPATA5 Stuart

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 and SPATA5L1 Related Disorders.

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.

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.

We also strive to provide community and support to SPATA5 and SPATA5L1 families across the world.

OUR
VISION

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.

OUR
GOALS

SHORT-TERM GOALS

  • Form a Scientific Advisory Committee (in progress)

  • Create a Patient Registry (in progress)

  • Create a BioRepository

  • Conduct a Natural History Study

  • Fund a Drug-Repurposing Project (researching)

LONG-TERM GOALS

  • Generate Mouse Models for future research (in progress)

  • Create a SPATA Dedicated Clinic at a Children's Hospital

  • Conduct Gene Therapy Research

SPATA5 Adam

SUPPORT
FOR SPATA

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.

OUR
FOUNDERS

Mariah and Nicholas George received the call on the morning of Valentine's Day 2023. Their son Luca had received results from his Whole Exome Sequencing: two mutated copies of the SPATA5L1 Gene.

But, they looked and looked and there was no support. So, they took it upon themselves.

The George Family

Board of Directors

SCIENTIFIC ADVISORY COMMITTEE

You'll notice this section is currently blank. The SPATA Foundation is actively looking for experts to dedicate time, passion, and expertise to the SPATA5 and SPATA5L1 Communities.

Are you an expert wanting to help?

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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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