The issue of genetic diseases is global and demands further development through an effective synergy of research and educational sector. A considerable amount of knowledge has been generated by biomedical research in recent years, yet most of the 6.000 to 8.000 rare diseases are lacking therapies despite many of these diseases being life- threatening or chronically debilitating. Rare diseases although individually rare taken together affect some 26-30 million European citizens and therefore action is highly demanded. While very few are well enough understood to be treated effectively, research needed to tackle these diseases, that are hampered due to their genetic heterogeneity: complex phenotypes, thin distribution of patients (which impairs gathering of enough subjects for suitable studies), isolation and low number of specialized research groups for each specific disease, fragmentation and lack of standardization of available data and material collections In line with the priorities 2014-2020 set by EURORDIS and with the EU Modernisation Agenda for Higher Education the project sets in the spotlight advanced research, which is the prerequisite of any therapeutic advance and effective educational processes. It is also of utmost importance, the fact that the development and further research on the issue has also vital social dimensions, as it can lead to the social inclusion and treatment of specified target groups in need. NGeneS, by forming a strong multidisciplinary, partnership stemming from Universities, Research Organisation, social partner and ICT expert aims at stimulating research activity of students by incorporating cutting edge technology of New Generation Sequencing into the educational process and likewise DNA sequence use as a valuable tool for diagnosis and potential treatment. The proposed innovative curriculum on “New Technology and Interpretation” will transform the typical lecture into an interactive ICT based procedure and will result in the active engagement of students into the research process and clinical trials. The innovative cooperative model, which will be introduced through an on line platform will benefit mutually the students, academic staff and researchers, which will be also enabled to provide up skilled teaching approaches and simultaneously provide incentives for creating communities of practice between research and education. Moreover, NGeneS with the establishment of an European Reference Network aims at providing an one-stop shop for all information through the development of Open EU tools, comprising of a registry of the data on genetic undiagnosed cases and rare skeletal dysplasias and a DNA sample repository for research purposes and for upgrading the educational models. The combined results of the proposed partnership will fulfill the needs of the identified target groups by establishing mutually beneficially cooperation tools to: - Provide students with high-level technology literacy and innovative research skills embedded in the digital era through the module “New Technologies and Interpretation”. -Introduce personalized treatment through interpretation of DNA samples with NGS - Address the needs of universities to attract the research oriented students for their programmes, by offering innovative curriculum on Next Generation DNA sequencing. - Enable partners to carry out joint research activities with other universities, hence speeding up the process of innovation and treatment on rare genetic diseases through the establishment of the relevant European Research Network. - Provide the basis through the Open EU Tools (Registry and Repository) for scientific and research development. - Provide a space for facilitating the sharing and co-creation of knowledge and multidisciplinary cooperation opportunities and therefore drive innovation. After the completion of the project the following objectives will be met: - Transformation and update of the educational process offered by HEI. - Inclusion of cutting edge NGS technology into educational practice. - Synergy building with stakeholders - Integration of skills required for future employment into the HEIs’ curricula. - Creation of open innovation space. - Dissemination and exploitation of project results at European and International level. - Implementation of a cooperation model which aims at identifying the main avenues and methods of interaction and how they can best be triggered. - Establishment of "one stop shop" for information through the Open EU registry and repository. - Establishment of NGeneS European Network that will act as a “think tank” and incubator of future initiatives. The establishment of multidisciplinary NGeneS project that represents the necessary critical mass of patients data, expertise and facilities, which are essential to address these difficulties, will contribute substantially to the vital issue of rare diseases in terms of education and research development.
Many patients with rare disorders now have diagnoses made through NGS and had previously spent years on an uninformative diagnostic odyssey enduring costly, time consuming, and sometimes invasive procedures associated with medical risks that are stressful for families and providers and imposing a heavy burden on the health-care system. NGS is found to be a less expensive option and significantly improves our diagnostic ability. The project's objectives were to improve healthcare across the breadth of medical specialities and carried out through the project's intellectual outputs (IO 1-4) and learning, teaching and training events. To be more specific, NGS studies the discovery of new genes and diagnosis of rare monogenic disorders, the identification and diagnosis of genetic factors contributing to common diseases, the prenatal diagnosis and testing, the personalised medicine, the gene therapy, and the genome editing. During the project, the consortium produced training material that cover the basic concepts of NGS technology and knowledge of new tools used for DNA sequencing. Furthermore, a registry was developed that contained data on undiagnosed cases and rare skeletal dysplasias as well as DNA samples that were analyzed through NGS technology. Finally, the consortium produced a mentoring guide that focuses on personalized treatment of rare diseases and on the importance of support that family provides in the affected member. All of the aforementioned material is easily and freely accessible to anyone from the on line training platform. During the learning, teaching and training activities, members of the University of Antwerpen and the Rizzoli Institute were given the chance to share their expertise and exchange knowledge on topics relevant to NGS in an effort to disseminate the knowledge to new generations. The IO2 on line training platform that hosts among others the training material produced in IO1, the Open NGeneS Resources produced in IO3, and the Mentoring Guide produced in IO4 has attracted 5292 visitors. The stakeholders that accessed and used the on line training platform in a frequent basis evaluated the overall output as "excellent" through feedback received. The participants' profile for this project was pre and post graduate university students, researchers, and medical doctors. In the multiplier events carried out through the project a total of 403 people registered. In the learning, teaching and training event 18 university students attended. Finally, the project's intellectual outputs (training material, open registry and mentoring guide) are hosted on the project's on line training platform which gathered over 5290 visitors. In conclusion, the project's results showed that NGS is an effective tool to diagnose genetically heterogeneous disorders in a clinical setting especially in young children in who all the clinical features may not be clinical evident or clear. This project provides students innovative research skills embedded in the era of artificial intelligence through the NGS, introduces personalized treatment through interpretation of DNA samples with NGS, enables partners to carry out joint research activities with other Universities, and provides a space for facilitating the sharing of knowledge and multidisciplinary cooperation opportunities for all participants.