The 1st Argonaute Syndromes Science & Family Conference 2022 was organised by the AGO2 Association with NSS funding. It took place as an offshoot of the 1^st Scientific Meeting on Argonaute proteins, co-organized by Prof. Meister and Prof. Simard in Regensburg, Germany.

AGO Alliance (formerly AGO2 Association), a Swiss non-profit, was founded with the aim of connecting affected families, raise awareness, and find funding for the development of treatment. Nora Leonardi, whose child is affected by the gene mutation, is the co-founding president and was also on the organising committee of the conference, together with Prof. Davor Lessel and Prof. Hans-Jürgen Kreienkamp (together the first to document the AGO2 gene mutation), Prof. Amelie Piton (first to document neurodevelopmental disorder associated with AGO1), and Prof. Gunter Meister (leading researcher on RNA-guided gene silencing and Argonaute proteins).

The conference brought together health experts, researchers, and patient families from all over the world. The first day was dedicated to a meet and greet with the families and all the participants, and meeting the scientists attending the parallel scientific meeting on Argonaute proteins. The second day was dedicated to the conference itself, with sessions devoted to patient families and their everyday experiences, and others explaining the syndrome itself, how research is progressing and possible treatments. Some families who were unable to come participated virtually on that day. The third day was a real family day to learn from each other in an informal way.

The feedback from families was very positive, with 91% of parents saying that they had learnt something new about their child’s condition and 100% of families and researchers saying they are eager to participate in a similar conference in the future. All agreed that it was educational, informative, and emotional. Parents expressed that the conference had created much needed long-term connections that will surely positively impact their children. Parents often talk of being frustrated and isolated in their struggle with the disease, this was finally a moment to see that they are not alone, that someone understands them and that research is under way to help them.

Researchers were also able to meet families and their children face-to-face, which gave them a meaningful context for all their tireless work on the gene or syndrome. They were able to see the different ways in which families in different countries cope with the disease, the different variations in symptoms and the progress that many patients have made. This gave them an even greater incentive to continue their research and try to make a difference to the patients. It also gave parents a different perspective on their daily struggle and, most importantly, reassured them that they had done absolutely nothing wrong to cause their children’s disease.