Strategy Paper for Next Generation Sequencing Platforms for Rare Diseases, 2010

Strategy Paper on Platforms for Rare Diseases Research. Next Generation Sequencing Platforms
The work undertaken during the E-Rare project was aimed at facilitating the links between scientists working in the field of rare diseases and technology platforms (high throughput genotyping, molecular screening, proteomics, animal models, stem cell institutes etc.) that could provide resources and/or expertise to those teams. The final goal was to explore potential routes for integration of these technology platforms into a European transnational funding programme for research on rare diseases.
 
The objectives of this paper are:

• To provide an overview of the organization and functioning of technology platforms and types of technologies
• To provide insight in RD researcher’s needs for technology platforms and study the roadblocks hindering researchers to make use of the expertise and resources at technology platforms.
• To provide a detailed analysis of next generation sequencing platforms today and their involvement in RD research
• To formulate recommendations for optimizing the use of technology platforms, more specifically next generation sequencing platforms, in RD research and enabling RD researchers to fully exploit the expertise and resources that are being made available at technology platforms throughout Europe
• To provide a case study of a technology platform dedicated to RD.

For more information please download the publication.