GNAO1 Spain Association

What GNAO1 Spain Association is

GNAO1 Spain Association is a nonprofit formed after 12 Spanish families met through their children's diagnoses of a pathogenic variant in the GNAO1 gene. The group describes itself as the fourth organization worldwide focused on these variants, following the Bow Foundation in the United States, Stichting GNAO1 in the Netherlands and Famiglie GNAO1 in Italy. It belongs to FEDER, Spain's rare-disease federation, and the Spanish Patients' Forum. Tax ID: G88605829.

About GNAO1-related conditions

The GNAO1 gene is on chromosome 16 and encodes part of G proteins involved in neuronal signaling. The association describes a range of serious effects, most commonly epilepsy and movement disorders; aphasia, intellectual disability, hypotonia, spasticity and circulatory, respiratory or endocrine problems may also occur. Severe cases can require interventions such as tracheostomy, deep-brain stimulation or feeding tubes. The association's profile states that no treatment or cure is currently available for the mutations it discusses; families should seek current medical guidance because research and care options can change. The condition is listed in Orphanet as ORPHA:592564. The association reports about 200 diagnosed cases worldwide, including 21 in Spain, while noting that the actual number may be higher.

Goals and activities

The association works to increase awareness, support affected families and raise funds for research. Activities include conferences, sharing research calls and projects, and publishing news and family accounts. It has medical advisors and maintains information about research projects.

Online presence and contact

The association is on Instagram and Facebook, and its website includes a contact form. Email: asociaciongnao1@gmail.com. The displayed phone number, 88605829, is incomplete and should not be used as a phone contact. No mailing address is listed.

Families can contact the association for peer support and research updates while relying on their clinical team for diagnosis, treatment decisions and urgent medical care.