Periodic Reporting for period 2 - SEED (STRENGTHENING THE SFAX UNIVERSITY EXPERTISE FOR DIAGNOSIS AND MANAGEMENT OF EPILEPTIC ENCEPHALOPATHIES) Reporting period: 2021-01-01 to 2023-01-31 Summary of the context and overall objectives of the project Developmental Epileptic encephalopathies (DEE) represent a group of severe epileptic diseases with early onset that lead to progressive cerebral dysfunction. The genetic causes are prominent. New molecular technologies have made it easier to diagnose and start treatment earlier, for better patient outcomes. The EU-funded SEED project is allowing the Sfax University (SU) in Tunisia to establish a close collaboration(twinning) with two internationally leading European institutions in DEE diagnosis; Aix-Marseille University in France and University of Antwerp in Belgium, to build research excellence and innovation in DEE clinical and genetic diagnostics. The aim is for SU to build sustainable research networks, close knowledge gaps and integrate into international networks via training and staff exchanges. Stakeholders include medical professionals, researchers and scientific community, epidemiologists, medical educators, clinical trialists, insurance payers, regulatory agencies and policy makers, patient families, non-governmental organisations (NGO), advocacy groups and medical reporters.The Expected impacts are to improve the skills and technical capacities of Tunisian doctors, researchers, health professional on the diagnosis of DEE Contribute to increase the research excellence of the coordinating institution in the field of DEE.Enhancing the reputation, attractiveness and networking channels of the coordinating institution SU will definitely reach the criteria to become “specialized epilepsy centre” as determined by International League Against Epilepsy (ILAE) and to receive fellowships and researchers from Middle East & North Africa (MENA) region for training.During the second reporting period, WP3 was successfully completed with the implementation of practical guidelines for EE patients and the awarding of diplomas to SEED epileptology trainers; WP4 was achieved with the three workshops and the short stays remaining.Dissemination work was well done with the organization of two summers courses and two international conferences. For WP6, two marie curie projects were drafted but not accepted, the ESRs had the opportunity to attend all the transferable skills training courses organized as part of SEED. Work performed from the beginning of the project to the end of the period covered by the report and main results achieved so far During the first reporting phase, external and internal communications tools have been implemented to guarantee a better information transfer between all SEED consortium members (T1.3). This successful communicative strategy led to work in synergy. The first fruit of this synergistic work is the setting up of e-learning training objectives (T2.1). From March to December, 2020, Seventeen clinical discussions meetings have been organized in order to train SEED students and to improve the phenotypic diagnosis of Epileptic Encephalopathies (EE) patients of the Child neurology department of Hedi Chaker university Hospital of Sfax. Various courses and webinars focused on training for clinicians, electrophysiologists and geneticists (T3.1) to ensure better knowledge in the field of neurology and Epileptic encephalopathiesBesides the SEED trainers, SEED Early Stage Researchers (ESRs) were selected. SEED ESRs were divided into Three categories ; Clinical and EEG, Genetics and Next Generation Sequencing (T6.1) and were offered different types of training activities. These ESRs participated in training webinars on EE syndromes, NGS kits, the miseq sequencing device as well as practical workshops at the Sfax Biotechnology Center. These webinars and workshops were carried out by the Sfax team on the one hand (T6.2) and on the other hand a building capacity on NGS gene panel design workshop was organized in collaboration with AMU (T4.1).The ESRs are assisting in the consultation of patients suffering from EE, contributing to the effectiveness of therapeutic management and monitoring the evolution of new clinical signs. They participate also in the routine visits of EE patients who are hospitalized in the child neurology department. The ESRs participate in the interpretation of the EEG and the investigation of any specific electrical pattern enabling the diagnosis of EE (T3.2).For better visibility of our SEED project, SEED members participated in 7 conferences and 2 workshops (T5.3). The two twinning H2020 projects coordinated by SU (SEED and Micafrica) worked in synergy on ethics questions. The SEED team also participated in the virtual exhibit at the Green deal event (T5.3). Progress beyond the state of the art and expected potential impact (including the socio-economic impact and the wider societal implications of the project so far) Through the SEED project, we ambition to have socio-economic impact with the reduction of the cost of EE diagnosis following three components :The cost of time lost by patient/family : the time between electro-clinical diagnosis for EE syndromes and the genetic diagnosis before the use of NGS was very long (e.g. 15 years for one of SU patient who died before the diagnosis). With the availability of EE panel testing, the genetic diagnosis can be obtained within months after birth.Extra cost : Early clinical and genetic diagnostic of EE also allows to evaluate the recurrence risk ; guiding medication management and avoid aggravation with inappropriate drugs which would result in extra costs.Monetary cost : Overall the cost of the etiological evaluation for epilepsy was significantly higher compared to cost of EE panel testing. Indeed, the cost of current epilepsy gene panels ranges from 1'500 to 6'000 dollars compared to 19'000 dollars spent on diagnostic tests other than NGSExpected impacts are:• To improve the skills and technical capacities of Tunisian doctors, researchers, health professional on the diagnosis of DEE • Contribute to increase the research excellence of the coordinating institution in the field of DEE. • Enhancing the reputation, attractiveness and networking channels of the coordinating institution • SU will definitely reach the criteria to become “specialized epilepsy centre” as determined by International League Against Epilepsy (ILAE) and to receive fellowships and researchers from Middle East & North Africa (MENA) region for training. • SEED project funding by European community and including three partners (SU, AMU, AU) will provide access to scientific excellence at international level in next generation sequencing domain based on the expertise of SEED team on the EE NGS. This structural change will result in :• An increase in the number of publications with a high impact factor from 0 to 4.• The increase in the number of new generation sequencing experts which will allow SU to develop its gene panel and use the skills acquired in other genetic diseases (eg neuromuscular diseases, leukodystrophy ...) and then improve their level of technological maturity (from 4 to 9)• Training on additional skills that will better enhance the results of research.• Building of Databases• Increasing number of conferences organized and participating in a greater number of international conferences.• Writing Horizon Europe better projects, in particular Marie-Curie actions (aimed at supporting the training of young researchers with doctoral training, individual post-doc grants, etc.) and collaborative health projects with the idea of achieving one of the fixed performance indicators, which is the submission of at least one collaborative health project before the end of SEED.• Trainings in collaboration with the "National Agency for the Promotion of Scientific Research" (ANPR). SEED Logo has been the result of a combination of the three flags colours of SEED project partners (
