Your donation fuels the research on the treatment for Argonaute syndrome. It gives hope for an independent and quality life for our children. We are racing against time to deliver treatments supporting kids' development during their early years.

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Our mission is to develop a treatment for Argonaute syndrome.  With your support, in 2025 we are planning to launch a drug repurposing screen to identify existing drugs that will work on our kids and improve the quality of life of our kids. 

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Your funding this year permitted us to generate a cell line that researchers will use to understand the mechanism of the disease. We actively pursue grant opportunities, but the urgency of our cause leads us to ask for donations. ​​

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Drug repurposing in more detail

We plan to carry out drug repurposing tests specifically for Argonaute syndromes. The first step will be to develop a screening system to observe the differences in human cell lines (normal vs. mutant). Initially, we will focus on the most common mutation among patients: AGO1 Phe180del. By studying what changes occur in the mutant cells through techniques like cell painting, we aim to understand the disease mechanisms.

Once we identify these changes, we will begin high-throughput screening. Using libraries of known drugs and compounds, we will test their effects on both wild-type and mutant cells. Drugs that improve cell functioning and reduce disease-related abnormalities will be selected for further testing.