At the Argonaute Syndromes conference in fall 2022 it was confirmed that mutations in the AGO1 and AGO2 genes lead to similar, if not the same, syndromes. Schalk et al. (2021) already stated this in their paper noting that "de novo coding variants in AGO1 are involved in a novel monogenic form of neurodevelopmental disorders, highly similar to the recently reported AGO2-related neurodevelopmental disorder".
As of 2023, about 85 patients have been diagnosed with a mutation in either gene. Given the small number of known affected individuals, and the strong similarity, we have decided to broaden the scope of our patient group and collaborate with AGO1.
Naomi, Aldona and Ana, whose children are affected by AGO1 mutations have since joined our team. Prof. Amélie Piton who led the study describing the AGO1-related disorder has joined our scientific advisory board. Many AGO1 families have joined our Facebook support group.
In June 2023 we formally changed our name from "AGO2" to "AGO Alliance" (new articles).
We are excited to unite as one community!
Joint AGO1/2 Natural History Study
Our lead researchers and advisory board members Prof. Piton and Prof. Lessel have also teamed up to push forward the understanding of the syndromes by running a joint Natural History Study.
