Together with Giammarco and the children with GNAO1 (25 in Italy and 250 worldwide)

They were born with a very rare and disabling neurological disease called GNAO1 (acronym for G Protein Subunit Alpha O1), from the name of the mutated gene. It is estimated that about 25 children in Italy, 250 around the world, but it could be more as the disease was only discovered by the scientific community in 2013 and is still unknown. The most common symptoms, which occur mainly in childhood and in some cases already in the first days of life, go away from hypotonia (decreased muscle tone) to movement disorders, including those of the choreic type or involuntary, rapid and disordered, from epileptic seizures to psychomotor retardation. To date there is no cure for GNAO1; scientific studies have recently been launched to identify at least a therapeutic approach that improves the life of the little patients. And their families are mobilizing to support research and to make known the disease in order to avoid other parents the odyssey to obtain the diagnosis. On the occasion of the international awareness day on the mutation of the GNAO1 gene, the Families Association GNAO1 APSborn in 2019, has promoted a fundraiser to fund research projects to find an effective treatment for this rare genetic disease as soon as possible.

History

Tells Massimiliano Tomassipresident of the GNAO1 APS Family Association and father of a six-year-old boy, Giammarco, struck by the disease: After a year of various attempts and investigations, my son was diagnosed four years ago, after taking the genetic test. Doctors told us that there were only 60 children in the world at the time with this same serious and disabling disease. After the initial shock, we went looking for other families and got in touch with the American Parents Association Bow Foundation. We found the Italian parents of other children with GNAO1, with whom we decided to form the association to join our forces and also to make GNAO1 known as much as possible in order to facilitate other diagnoses. Since then other families have contacted us from different parts of Italyincluding families of older patients who were diagnosed after extensive research.

That mutated gene

Mutations in the GNAO1 gene cause gods defects in the alpha subunit of the G protein, which does not work as it should in signal transmission between nerve cells. Depending on the mutations, the types of disorders and their severity can vary from child to child. The hallmark of the disease are i movement disorders present in almost all children, who also manifest themselves with involuntary movements, sometimes they become very disabling so that, to keep them under control, the child must be admitted to intensive care – explains Tomassi -. Another serious ailment ishypotoniaso almost all children do not walk and in several cases they cannot even sit independently; mostthen, cannot speak and communicates with alternative channels such as the gaze. Being very rare, the disease is little known to the doctors themselves. We have set up a scientific committee made up of specialists and researchers who will guide us, with their experience, on our journey, continues Tomassi.

Hope in research

The hope of the parents in the research that goes on to identify possible cures. Since its inception, the association has organized two European scientific conferences in which experts from this very rare neurological disease, periodic round tables between doctors and researchers in collaboration with associations representing patients from other countries. We are organizing a new one international conference to be held in Italy in 2023 – reports the president of Families GNAO1 -. Our aim is to foster the exchange of information between clinicians and researchers, nationally and globally, to increase understanding of the disease and promote the path of scientific research. To date – explains Tomassi – the mechanisms of the disease on a neurological level, nor the course it will take over the years and the consequences are not yet fully known. Researchers, including the Italian ones from the Istituto Superiore di Sanit and the Sapienza University of Rome, are focusing on preclinical models that can clarify the pathogenetic mechanisms in order to then be able to develop a therapy, hopefully in a short time. As an association we are also funding a research project, led by the Sapienza University of Rome, for develop gene therapy. For this purpose, GNAO1 Families organized a fundraiser on Network of the Gift platform.