Half a year ago, Marc León, General Director of EPS Container Line, launched a solidarity initiative on the Internet, together with relatives of other spanish patients, to help raise funds for the study of GNB1 encephalopathy in the Gene Therapy at Nervous System research group of the Vall d'Hebron Institute of Research (VHIR), led by Dr. Miguel Chillón. This condition has no cure and does not even have fully tested drugs to treat severe symptoms such as epilepsy. The long-term clinical prognosis is also unknown, having begun to study it only a few years ago.So far, more than euros53,000 has been raised, between the initial contribution of the company EPS Container Line, and the individual contributions on the MiGranoDeArena website. Thanks to these first donations, the disease will be better known, since it is still a great mystery, due to the small number of patients suffering from this ultra-rare genetic mutation (just over than 100 cases diagnosed worldwide).The challenge now is to raise more funds to begin the second stage of research, in which therapeutic AAV-GNB1 vectors will be generated, to validate the expression of the therapeutic gene, and iPSCs (induced pluripotent stem cells) of two GNB1 patients and their parents will also be generated, and their referral to neurons.People interested in helping this goal can collaborate in the following https://www.migranodearena.org/reto/encefalopat-a-gnb1-en-busca-de-una-cura" web address, as well as in the solidarity activities that will be carried out in the coming months, when COVID-19 allows it. The organization of charity concerts and the sale of solidarity products are planned, as well as informing the public about the pathology.In addition, the creation of an international foundation based in Barcelona, GNB1 Foundation International, and a national brand, Gen Rebelde, is underway to continue joining forces with the same goal: to find a cure for all these children. "We will try to raise as much as possible to get as far as we can with the research", according to Marc León. A research that he hopes will also benefit his child, diagnosed in May 2019. "It is very difficult to assimilate that your child has a genetic disease with so few patients in the world, so little information and few studies. Fortunately, this past summer we found that Dr. Chillón was starting a similar project for type 52 spastic paraplegia (SPG52) and we thought about starting our own study"."Vall d'Hebron is a world reference center, with professionals who guarantee quality research. Dr. Miguel Chillón, together with Dr. Assumpció Bosch, professor of Biochemistry and Molecular Biology at the Autonomous University of Barcelona (UAB), have a lot of experience in the field of gene therapy, especially in the study of rare diseases that affect the nervous system (such as multiple sclerosis, amyotrophic lateral sclerosis (ALS), megalencephalic leukodystrophy or Alzheimer's)", continues Marc León. "We couldn't have fallen into better hands for this project".The diseaseGNB1 encephalopathy is a serious neurodevelopmental disorder, characterized by a global developmental delay, speech deficit, severe mobility or vision problems, intellectual disability, epilepsy, seizures and other less common symptoms. It is caused by mutations in the GNB1 gene, which encode the GBeta1 subunit of G proteins. G protein-coupled receptors (GPCRs) are the largest family of transmembrane receptors and are involved in numerous biochemical processes and pathways, making it difficult to study the cellular mechanisms affected by the disease.As a neurological disease, the development of therapeutic treatment for GNB1 is essential, especially in the early stages, before the disease progresses significantly."We are grateful for this initiative, which will allow us to launch a pioneering research into the disease. In recent years, several success stories have been reported with gene therapy strategies with AAV vectors, some of which are already on the market, in diseases such as spinal muscular atrophy, retinal dystrophy or, soon, in the recessive dystrophic bullosa epidermolysis, and hemophilia B", explains Dr. Miguel Chillón.