2025 From Awareness to Therapy: A Year of Action Around AGO-Related Rare Diseases
From Awareness to Therapy: A Year of Action Around AGO-Related Rare Diseases
Rare diseases are often described as “rare” only from a statistical perspective. For affected families, they are a daily reality. Over the past year, the AGO community—patients, families, scientists, and clinicians—has taken meaningful steps to ensure that conditions linked to Argonaute (AGO) genes are better understood, more visible, and, ultimately, treatable.
Building Awareness and Social Engagement
One of the most important challenges in rare diseases is visibility. This year marked the launch of a nationwide series of workshops in primary schools, designed to introduce children to the concept of rare diseases through the real-life example of AGO syndrome. By combining science, empathy, and storytelling, these workshops help young people understand that rarity does not mean insignificance.
At the secondary school level, the nationwide competition “Youth for Rare Diseases”was launched. The initiative connects education about rare diseases with hands-on experience in local fundraising, empowering teenagers to become active advocates in their own communities. The award is a visit by Nobel Prize laureate Prof. Victor Ambros to the winning high school.
Representatives of the AGO community also participated as speakers at both national and international patient-focused and patient–scientist conferences, ensuring that the voices of families and researchers are heard together—where decisions, collaborations, and future strategies are shaped.
Advancing Science Together With Patients
On the scientific front, collaboration and momentum have grown significantly. In 2025, the third major international scientific–medical–patient conference dedicated entirely to AGO syndrome was co-organized in Prague, bringing together around 300 participants from across the world. This unique format allowed researchers, clinicians, and families to exchange knowledge directly and align priorities.
To support the global research community, we initiated the development of two new disease-relevant organism models that will serve as tools for researchers to study AGO-related disorders.
Several therapeutic paths have also been initiated:
Work has begun on a gene therapy approach using siRNA technology, in collaboration with UMass Chan Medical School.
Parallel efforts are underway to develop another gene therapy approach in partnership with Ohio University.
A systematic drug repurposing program has been launched to identify existing, approved medications that could potentially improve symptoms or modify disease progression.
In addition, a novel drug discovery program using state-of-the-art AI-based tools has been initiated to accelerate the identification of new therapeutic candidates.
Equally important, recruitment of patients into a Natural History Study has been actively supported, and researchers are currently analyzing the collected data. Understanding how AGO-related conditions progress over time is essential—it provides the baseline against which future therapies will be tested.
Science Behind the Progress
These actions are grounded in rapidly advancing scientific knowledge. In the past year alone, several landmark studies have reshaped how scientists understand AGO-related neurodevelopmental disorders:
Liu et al., Nucleic Acids Research (2025) demonstrated that disrupted AGO2–miRNA dynamics underlie AGO2-associated Lessel–Kreienkamp syndrome, highlighting how subtle molecular defects can have profound developmental consequences.
Savidge et al., PNAS (2025) showed that disease-linked Argonaute mutations delay RISC formation and lead to unusual trimming of microRNAs, uncovering previously unknown mechanisms of gene regulation.
Do et al., bioRxiv (2025) revealed that AGO1 plays a critical role in brain development and social behavior through the LIN28A–REELIN pathway.
Together, these discoveries not only validate years of patient-driven advocacy but also open concrete paths toward targeted therapies.
Looking Ahead
The past year demonstrates what becomes possible when families, scientists, clinicians, and educators work as one community. Awareness leads to understanding, understanding fuels research, and research creates the foundation for therapy.
For the AGO community, this is not the end of the journey—but a decisive step forward.