The association
GABRB3
We want to be a point of reference
Who we are
We are a group of parents, relatives, and friends of Tommaso, a child affected by the GABRB3 genetic mutation. After receiving the diagnosis of this rare disease, we felt the urgency to deepen our knowledge about it and establish connections with other families and patients facing the same challenge.
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Through collaboration with doctors and organizations, we have managed to identify seven children with the same mutation in Italy, and thanks to a Facebook group, we have reached less than 100 families scattered around the world. Together, we have created this association, ready to welcome anyone who wishes to join us, offering support, information, and, above all, hope.
The hard truth
10
Recognized patients in Italy
100
The known number of patients worldwide
0
Clinical trials filed in clinicaltrials.gov