Our project aims to develop at European level a new business model intended to end the expensive and stressful diagnostic odyssey experienced by patients affected with a Mendelian disease, needing genetic testing to confirm or clarify the diagnosis. We intend to achieve this goal through dissemination and marketing at European level of the platform “Genica.eu” which we tested in the Italian market. Such platform allows meeting between patients looking for a reference center, expert geneticists able to interpret genetic data, and BMR Genomics as service providing technology and expertise to manage the overall project. Genetic testing has been facing an exponential growth in the last years, due to the rapid evolution of Next generation sequencing technologies for DNA analysis, the reduction of sequencing costs and the increase of the overall number of genes linked to Mendelian diseases. However, the current genetic testing process is highly fragmented and there is a lack of harmonization in the genetic services offer between European countries. Our project wants to enter the genetic testing market and aims to satisfy the growing need to organize and enhance the affordability of genetic services, as well as to use and manage genetic data for diagnosis of rare diseases. The feasibility study under Phase 1 has the purpose to develop the business plan in: European market analysis (target customers, user needs, competitors, SWOT analysis, stakeholders); organizational structure and operational network, regulation and know-how management; analysis of costs and profitability. The project addresses some Europe's challenges: the need to facilitate improvements in diagnosis and delivery of high- quality, accessible and cost-effective healthcare for all patients with medical conditions requiring rare expertises and the need to enable and facilitate the exchange of expertises among European countries and to harmonize the genetic testing offer and affordability.

The aim of this proposal is to acquire new insights about the mechanisms of environmental adaptation, particularly for cold-adapted organisms, and to discover novel metabolic pathways and enzymes with potential industrial value. We intend to accomplish this goal by establishing a collaboration and a knowledge-exchange network between industrial and academic partners aiming at developing bioinformatic tools for genomic analysis and biotechnology tools for directed evolution. The partners present high complementarity: UNICAM holds genomic sequences from psychrophilic and mesophilic ciliates that need to be annotated and analysed. Sabanci provides environmental samples for the isolation and characterization of new extremophiles. CAMBRIDGE provides the know-how for the discovery of new metabolic pathways valuable for understanding environmental adaptation. BMR Genomics and COMSATS possess all the facilities for genome sequencing and annotation and bioinformatic expertise with the purpose of developing new tools to analyse genomes of microorganisms from extreme environment. UNIMIB owns the facilities for the heterologous expression of gene sequences in bacteria and yeasts and technologies to assess and implement the properties of novel enzymes towards industrial application. We are confident that the establishment of the international research network proposed, with its synergistic effects, will significantly contribute to push all the involved laboratories to the top level in the field of production of active biomolecules and in the discovery of mechanisms of molecular adaptation under extreme environmental conditions. These discoveries may help the manufacturing of a new generation of ordinary facilities, as cleaning agents, biofuels, with a significant impact on the everyday life of European citizens.