Connecting Genes to Rare Diseases through New Generation Sequencing (NGS) Technology and Advanced Teaching Methods Erasmus Project

Project Title

Connecting Genes to Rare Diseases through New Generation Sequencing (NGS) Technology and Advanced Teaching Methods

Project Key Action

This project related with these key action: Cooperation for innovation and the exchange of good practices

Project Action Type

This project related with this action type : Strategic Partnerships for higher education

Project Call Year

This project’s Call Year is 2017

Project Topics

This project is related with these Project Topics: New innovative curricula/educational methods/development of training courses; ICT – new technologies – digital competences; Health and wellbeing

Project Summary

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.

Project Website

https://www.ngenes.eu

EU Grant (Eur)

Funding of the project from EU: 177809 Eur

Project Coordinator

ETHNIKO KAI KAPODISTRIAKO PANEPISTIMIO ATHINON & Country: EL

Project Partners

• NIKOLAOS KOUTSOMPINAS OLGA MAVROPOULOU O.E.
• ISTITUTO ORTOPEDICO RIZZOLI
• UNIVERSITEIT ANTWERPEN