treatment RESEARCH
For AGO syndrome (mutations in Ago1 and Ago2 genes)
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
Ago1
Alg-1 (ma447, Phe180del)
Alg-1 (ma443, Gly199Ser)
Alg-1 (zen25, Val254Ile)
Alg-1 (zen18, His751Leu)
contact Prof. Zinovyeva
Fruit fly
In plans
Mice
In plans
Fibroblasts
Phe180del
His751Leu
Val254Ile
Contact Prof.Piton
iPS cells
Phe180del
Gly199Ser
contact us or Prof.Piton
Ago2
Worms
Alg-1 (ma447, Phe180del)
Alg-1 (ma443, Gly199Ser)
Alg-1 (zen25, Val254Ile)
Alg-1 (zen18, His751Leu)
contact Prof. Zinovyeva
Fruit fly
No information available
Mice
Ongoing characterization contact Prof. Kreienkamp
Fibroblasts
P192L
A376P
D619N
G733R
Contact Prof.Lessel
iPS cells
P192L
G733R
contact Prof.Lessel
Worms
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 contact@agoresearch.org
Ongoing Research
Requiring Patient Involvement
1.
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: DOWNLOAD
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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.
2.
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.
3.
Planned Research
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Drug repurposing in C.elegans
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Development of Nucleic acid therapy (siRNA, tinyRNA, ASO)
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Small molecules modelling