Periodic Reporting for period 1 - SEED (STRENGTHENING THE SFAX UNIVERSITY EXPERTISE FOR DIAGNOSIS AND MANAGEMENT OF EPILEPTIC ENCEPHALOPATHIES)
Reporting period: 2019-10-01 to 2020-12-31
(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. This project has an impact in Tunisian society, for the community, for the beneficiary parties and the stakeholders.
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.
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
Besides 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).
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 NGS
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.
• 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).