Welcome to the "Connecting Genes to Rare Diseases through New Generation Sequencing (NGS) Technology and Advanced Teaching Methods”, “NGeneS platform”. NGeneS is funded by the European Union under the Erasmus +, KA2 / KA203 - Strategic Partnerships for Higher Education programs managed by the State cholarship Foundation. It is a collaborative effort of four partners, the Medical Genetics Laboratory of the National and Kapodistrian University of Athens (Greece), the Department of Genetics of the University of Antwerp (Belgium), the Department of Genetics of the Research Orthopedic Institute Rizzoli (Italy) and the Consultative and Educational Company ONLINE (Greece).

Rare diseases are diseases that affect not more than 5 per 10.000 persons in the European Union, as defined in the context of the EU legislation. 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.

The traditional “one size fits all” approach in the world of medicine and pharmaceutics is gradually being replaced by “Precision” or “Personalized” Medicine. Critical clinical decisions will be based on the genetic, epigenetic, proteomic or metabolomic profile of patients with diseases of the genome such as genetic rare diseases and cancer.

Current patient care pathways include, molecular diagnostic tests that are mainly focused on the detection of DNA alterations after investigating the coding sequence of a protein coded by one single gene. Disclosing mutations already known to be involved in the 6,000 characterized single-gene disorders is at this point performed to provide a molecular confirmation. Testing for more than one genes or even the entire genome simultaneously is now made feasible through Next Generation Sequencing (NGS). In specific, NGS applications include the simultaneous analysis of up to several selected genes (gene panels), the entire protein-coding region (whole exome sequencing, WES) or the entire genome of an individual (coding and non-coding regions) known as Whole Genome Sequencing (WGS).

NGeneS aims at stimulating research activity by students to incorporate cutting edge technology into the educational process and DNA sequence to be used as a valuable tool for diagnosis and potential treatment. The proposed innovative curriculum will transform the typical lecture into an interactive ICT based procedure and will result in the active engagement of students into diagnosis and research. As rare disease research is an area of excellence and innovation, the project also seeks to provide an integrated European response to rare genetic cases research through applying innovative IT solutions. The development of an online infrastructure allowing Universities, research institutions and students to cooperate at European level aims at facilitating the exchange of data and co-creation of knowledge. This will form sustainable bonds between Higher Education Institutions, Research Centers and Patient Organizations.

We wish the users of NGeneS platform to enjoy surfing through the innovative tool and benefit from this “one-stop shop” for all information in the context of medical genetics.