If you would like to join our mission of finding the treatment for AGO syndrome (mutations in Ago1 and Ago2 genes), please get in touch: contact@agoresearch.org
Available assets
Protein | Worms | Fruit fly | Mice | Fibroblasts | iPS cells |
|---|---|---|---|---|---|
Ago1 | Alg-1 (ma447, Phe180del),
Alg-1 (ma443, Gly199Ser),
Alg-1 (zen25, Val254Ile),
Alg-1 (zen18, His751Leu)
contact Prof. Zinovyeva | In plans | In plans | Phe180del, His751Leu Val254Ile Contact Prof.Piton | Phe180del
Gly199Ser
contact us or Prof.Piton |
Ago2 | Alg-1 (ma447, Phe180del),
Alg-1 (ma443, Gly199Ser),
Alg-1 (zen25, Val254Ile),
Alg-1 (zen18, His751Leu)
contact Prof. Zinovyeva | No information available | Ongoing characterization contact Prof. Kreienkamp | P192L, A376P, D619N, G733R Contact Prof.Lessel | P192L, G733R Contact Prof.Lessel |
Please contact us or the researchers directly if you would like to request listed cell lines. If you are a researcher and have developed additional model organisms or cell lines, please let us know at argonautesyndrome@gmail.com
Ongoing Research Requiring Patient Involvement
-
Natural History Study led by Prof.Lessel (data collection until 31 October 2025)
If you or your child are affected by the Ago1-syndrome or Lessel-Kreienkamp syndrome (Ago2-syndrome / Leskres syndrome), please:
-
Fill in the questionnaire: https://drive.google.com/.../15XnNEZwsBHa4dzX4bur...
-
Send the questionnaire and genetic test report to o.ielesicheva@salk.at
​
It will help to build foundations for developing standards of care, therapeutics and clinical trials.
-
Natural History Study: Epilepsy deep-dive by Prof.Piton
If you or your child have an epilepsy or a suspicion of one, please send your paper medical reports from neurologists to:
Sarah Baer/Amelie Piton
IGBMC
1 rue Laurent Fries
67 400 illkirch
France
​
Please contact Dr. Sarah Baer or Dr. Amélie Piton for more information (sarah.baer@chru-strasbourg.fr and/or apiton@unistra.fr). You can mask the child’s name in the report, except the first 3 letters.
Planned Research
-
Drug repurposing​ in C.elegans
-
Development of Nucleic acid therapy (siRNA, tinyRNA, ASO)​
-
Small molecules modelling
Key Publications
Ago1
​
-
2021| De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Ago2
-
2020| Germline AGO2 mutations impair RNA interference and human neurological development