What is GNAO1?

GNAO1 is a gene mutation, that causes various severe symptoms..

In some families everyday life is unpredictable and uncertain year after year due to serious diseases. One of these rare disorders is a GNAO1 gene mutation, that causes various severe symptoms. Most patients with a GNAO1 disorder are diagnosed as infants or young children.

It is still unknown what causes the mutation in the gene GNAO1. There is no known treatment or a cure. Although the genetic error cannot be corrected, a global community of scientists is currently trying to find a drug that relieves the severe symptoms.

With the right type of drug, the quality of life for GNAO1 children will be a lot better and daily lives of their families will become significantly easier.

One of the beneficiaries of the medical research is a 3-year-old GNAO1 warrior Epu.

For Epu, the mutation in the GNAO1 gene causes seizures, abnormal movement, epilepsy, and several developmental disabilities that prevent self-movement and speaking.

Despite his serious symptoms, Epu is a little charmer
bursting with joy and light. Epu likes fairy tale books, toy cars, cuddles and watching a children’s TV show “Pikku Kakkonen” with his big sister.

Epu and his family hope that there will be enough funding for the research project and one day, there will be a drug that would improve the quality of life for Epu and other GNAO1 children.