We are grateful to all the members of APS Type 1 Foundation for their continuous support and advice. We thank APS Type 1 Foundation’s families for their hard work to raise funds to support APS-1 research.

Rachid Tazi-Ahnini and Mimoun Azzouz

In 2019, the Foundation’s research grant was awarded to Rachid Tazi-Ahnini and Mimoun Azzouz from the University of Sheffield in the United Kingdom.  We are pleased to share that they published two scientific articles wherein they acknowledge support from The APS Type 1 Foundation.

Their research focused on thymic AIRE replacement as potential way to restore immune tolerance.  They believe that the monogenic etiology of APS Type 1 makes gene therapy an attractive possibility for the multiple clinical manifestations. They designed an adeno-associated serotype 9 (AAV9) vector carrying a human AIRE copy under the control of the AIRE promoter, which is the driving sequence necessary for the expression of AIRE gene.  The AIRE promoter was modified to optimize its expression in the thymus. The newly generated AIRE promoter was then tested in two cell lines and showed that this promoter increases AIRE expression compared to the unmodified AIRE promoter. The next step is to test this newly generated promoter in AIRE knockout mice to rescue the APS Type 1 clinical phenotype.

Thank you to our dedicated donors and supporters for making this grant and many others possible.

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