Diagnosis, treatment or cure of inherited monogenic diseases are of high interest by the society. Neurological disorders like spinal muscular atrophy (SMA) is among the most important ones. We have undertaken to establish a cooperation frame for the diagnosis and test of SMA, and develop a therapy for the disease, in model experiments with a novel artificial chromosome-stem cell technology. First we plan to measure the frequency of the disease allele and establish the most developed screening and testing protocols, in our area (Southern Hungary and Vojvodina, Serbia). At the same time a validated preclinical animal model will be developed on SMA therapy. As a result of the two activities when we reach the expected international and public attention, we hope that we could step further extending the system to countrywide, and to Europe as well.Doctors participating in this study will have a better understanding and scope of inherited diseases and get new and modern diagnostic possibilities on their field of medicine. Basic researchers involved in the cooperation will gain a stronger vocation in their laboratory based work, so they could realize the importance much more of their work. We hope that clinicians and scientists together could reach our goal to repair something which was incurable until now, and the result will be applicable not only on the specified disease but hopefully will serve as a model for other disorders. Location of the project gives a cross-border communication possibility to both parties, like organization of scientific meetings, expertise and student exchange programs. BRC of HAS, the center of Excellence of the EU is running a traditional International Training Course (ITC) for foreign young scientists, so it has a high level of experience in this respect. This project would provide a new relationship between BRC of HAS and University of Novi Sad, and to move the Hungarian/Serbian collaboration to a higher level.In the frame of the project we will implement the following activities:1) Project management2) Information and publicity3) Procurement of equipment4) Development of new methods (Isolation of mouse embryonic stem cells, Partial differentiation of stem cells into neuronal stem cell lineage, Injection of neuronal stemcells into animals with diseased genetic background, Investigation of treated animals and theist tissues)5) Patients' Care and Information Center setup (Establishment of clinical criteria based on published international standards, Clinical research team set up, IT back office design and setup, mol.biol laboratory set up)6) Setting up and adaptation a protocol for molecular and clinical diagnosis for SMA disease (Collection of patients (cca 400-500), Blood collection from selected patients (estimated 35-50 person), Genetic screening of those selected blood DNA examples, Data collection and evaluation). Achievements: The equipment and research materials for the project were delivered to the labs in June 2011. It significantly contributed to the continuation of the research. The SMN1 expression cassette was cloned into the ACE targeting vector. This vector ensures that the SMN1 expression cassette will be built into the ACE chromosome. However, before the ACE targeting vector with the SMN1 expressioncassette could be loaded onto the ACE chromosome,it was necessary to do the quality controls. The nucleotide sequence of SMN1 gene was determined to avoid the delivery of a mutant SMN1 gene. Then, the transiently transfected ACE targeting vector into mammalian cells to check whether the SMN1 protein is expressed or not. Anti-SMN1 was used as antibody in Western blotting experiments to verify that the antibody is working (positive control) and to show that ACE targeting plasmid is expressing SMN1. The presence of the SMN1 protein was clearly shown inWestern blotting experiments. Since the construct proved to be good, the targetingexperiments were initiated. SMN1 gene was produced carrying ACE chromosome containing cell line. The goal of the research was achieved, since now we have a therapeutic artificial chromosome (SMN1-tACE) which could be used for therapeutic model experiments in the near future. The Patients' Care and Information Center was set up in order to inform patients andtheir familly members (possible carriers) about SMA, to collect their blood samples, diagnose them and store the samples. A database was created with records of 400 people and a protocol for clinicaland molecular diagnosis of SMA. Also, blood samples were collected from patients their parents and sibllings, and genetic screening of DNA samples started.