Smile for GNAO1
What is GNAO1?
GNAO1 is a rare genetic neurodevelopmental disorder arising from a mutation of the eponymous gene.
GNAO1 disorder was first characterised in 2013.
Today roughly 200 people worldwide have been diagnosed with the GNAO1 disorder
There is no cure or treatment for GNAO1.
About us
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.
Rare disease
In Europe a disease is classified as rare if it affects fewer than 1 in 2000 people. These diseases are rare but numerous, estimated to affect 3%-5% of the global population. There are currently over 7000 known rare diseases, and new ones are described in scientific publications every year. 80% of rare diseases are of genetic origin and emerge during childhood. It is estimated that in Italy there are 2 million rare disease patients and 30 million in Europe.
Research
In recent years, an increasing number of research groups and clinicians have focused their attention on this pathology, to try to shed light both on the neurological mechanisms that underlie it, and on its manifestation and evolution. This section collects works from the international scientific community, which is certainly an important resource for anyone who can deepen their knowledge of the disease.
GNAO1 European Conference 2023
Famiglie GNAO1, the Italian GNAO1 patients association, is happy to announce the third edition of the GNAO1 European Conference, in Rome, on the 16th and 17th of June 2023 . Two days entirely dedicated to the ultra-rare disease caused by the GNAO1 gene mutation. An event open to clinicians, researchers, rehabilitation experts, families and everyone interested in this genetic disease.
The conference is structured as follows:
• The first day will focus on clinical aspects of the disease as well as on the latest updates on the ongoing research projects. Note that all the talks will be in English with real time translation to Italian and Spanish.
• The second day will cover rehabilitation topics and will go through what has been discussed the day before with an easier language, at the advantage of the non-technical audience. A session dedicated to accessible videogaming will complete the day. Note that the talks will be mostly in Italian with real time translation to English and Spanish.
Events and news
4 October 2020
ENG – Run 4 GNAO1 WarriorsOn GNAO1 Awareness Day, Famiglie GNAO1 invites all its supporters to participate in the RUN 4 GNAO1 WARRIORS awareness initiative. A virtual run / walk, to support research on disease and help all our little, great warriors.
1 October 2020
ENG – GNAO1 EU Conference 2020Famiglie GNAO1 hosted the second GNAO1 European Conference online from 1-3 October 2020. The principal objectives of this conference were: facilitate cross-pollination of research ideas and developments across the globe, continue to build a centre of innovative GNAO1 research and practice in the European Union and generate awareness, so that GNAO1 patients are able to […]
16 November 2019
ENG – GNAO1 EU Conference 2019Famiglie GNAO1 hosted the first European GNAO1 conference in Rome, Italy on 16 November 2019. The goal of this conference was to engage the medical, research, rehabilitation and health policy community in Italy and Europe to: begin the foundations of a strong center of innovative GNAO1 research and practice in the European Union and facilitate […]
ENG – GNAO1: partono i primi progetti di ricerca sostenuti dall’associazione italiana
In soli due anni, la onlus “Famiglie GNAO1” è diventata un punto di riferimento per i pazienti e la comunità scientifica. La malattia correlata a GNAO1 è una patologia genetica molto rara che colpisce il neurosviluppo e con esordio in età pediatrica. Ad oggi, sono noti poco più di 200 pazienti al mondo affetti da questa malattia, i […]
Events and news
ENG – GNAO1: partono i primi progetti di ricerca sostenuti dall’associazione italiana
In soli due anni, la onlus “Famiglie GNAO1” è diventata un punto di riferimento per i pazienti e la comunità scientifica. La malattia correlata a GNAO1 è una patologia genetica molto rara che colpisce il neurosviluppo e con esordio in età pediatrica. Ad oggi, sono noti poco più di 200 pazienti al mondo affetti da questa malattia, i […]
Scopri di più
ENG – Run 4 GNAO1 Warriors
On GNAO1 Awareness Day, Famiglie GNAO1 invites all its supporters to participate in the RUN 4 GNAO1 WARRIORS awareness initiative. A virtual run / walk, to support research on disease and help all our little, great warriors.
Scopri di più
ENG – GNAO1 EU Conference 2020
Famiglie GNAO1 hosted the second GNAO1 European Conference online from 1-3 October 2020. The principal objectives of this conference were: facilitate cross-pollination of research ideas and developments across the globe, continue to build a centre of innovative GNAO1 research and practice in the European Union and generate awareness, so that GNAO1 patients are able to […]
Scopri di più
ENG – GNAO1 EU Conference 2019
Famiglie GNAO1 hosted the first European GNAO1 conference in Rome, Italy on 16 November 2019. The goal of this conference was to engage the medical, research, rehabilitation and health policy community in Italy and Europe to: begin the foundations of a strong center of innovative GNAO1 research and practice in the European Union and facilitate […]
Scopri di piùGNAO1 AWARENESS DAY 2021
Every day the little GNAO1 patients, together with their families and with the support of therapists, doctors and educators, live the difficulties of their daily life with a warrior commitment but at the same time with the spontaneity and the smile of their being, first of all, children.
October 1st is the right day to help the association make the impossible possible!
GNAO1 IN ITALY
GNAO1 IN ITALY
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.
Find out more