The Famiglie GNAO1 Association was established in 2019 by a group of families in Italy to better support other families in Italy afflicted by the GNAO1 disorder. Whilst focused on serving the patient community within Italy, we aim to collaborate with patient family groups, physicians and researchers in other countries to facilitate information sharing and ultimately to find a cure for this rare disease. Our primary goals are to:
- Support GNAO1 patients and families in Italy
- Promote research in Italy and Europe
- Increase awareness in the European medical, scientific, therapeutic and policy communities, as well as the general public in Italy
- Facilitate transnational communication and initiatives
GNAO1 is a rare genetic neurodevelopmental disorder arising from a mutation of the eponymous gene. Today roughly 100 people worldwide have been diagnosed with the GNAO1 disorder arising from de novo mutations of the gene. The GNAO1 disorder was first characterised in 2013 by a Japanese research team studying DNA mutations in four Japanese children. Subsequent diagnoses of this rare disorder arose with families seeking to understand why their children were missing developmental milestones and in many cases suffering epileptic seizures and abnormal movements.
Rare diseases
Genetic diseases
The Bow Foundation
This map shows the location of the GNAO1 families currently in contact with Famiglie GNAO1. If you are a family with a recent GNAO1 mutation diagnosis, know that you are not alone. The families in this group are ready to give support and to share experiences and information. If you want to get in touch with us, you may do so via the contact form below.
