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Development of a platform for a new model of interaction between geneticists and patients with Mendelian diseases.

Total Cost €


EC-Contrib. €






Project "PLATGENE" data sheet

The following table provides information about the project.


Organization address
city: PADOVA
postcode: 35131

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country Italy [IT]
 Project website
 Total cost 71˙429 €
 EC max contribution 50˙000 € (70%)
 Programme 1. H2020-EU.3.6. (SOCIETAL CHALLENGES - Europe In A Changing World - Inclusive, Innovative And Reflective Societies)
2. H2020-EU.2.3.1. (Mainstreaming SME support, especially through a dedicated instrument)
 Code Call H2020-SMEINST-1-2016-2017
 Funding Scheme SME-1
 Starting year 2017
 Duration (year-month-day) from 2017-05-01   to  2017-10-31


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 


 Project objective

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 “” 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.

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The information about "PLATGENE" are provided by the European Opendata Portal: CORDIS opendata.

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