A recent article published in the European Journal of Human Genetics summarized the achievements of RD-Connect, NeurOmics and EURenOmics, the three flagship projects financed by the European Commission between 2012-2017 as a response to the unmet needs of the rare disease community. Aimed to help advance –omics research and data sharing, aligned with the goals of IRDiRC, the cooperation between the three projects illustrates a solid basis on how to build and reinforce global collaboration to improve both diagnosis and therapy development.
Among the key achievements of this initiative:
- Identification of over 120 new disease genes by both NeurOmics and EURenOmics, most of which have been published. Researchers from both projects also developed targeted Next Generation Sequencing (NGS) panels to accelerate the analysis of known genes associated with the disease of interest. These NGS panels have been used for diagnosis of over 700 patients for NeurOmics and 4,000 cases for EURenOmics. Both projects also identified novel biomarkers for diagnostic purposes and initiated some therapeutic trials.
- The RD-Connect Genome-Phenome Analysis Platform which by December 2017, contained exome and genome data of over 3,000 patients, mainly with neuromuscular or neurodegenerative rare disease, and includes data generated by both NeurOmics and EURenOmics. The amount of data is rapidly increasing and the platform now also contains patients with other types of rare diseases. Additionally, it integrates numerous tools and online data analysis services (Exomiser, GA4GH “beacon” application programming interface, runs of homozygosity, etc.) that are easy to use, even for researchers without bioinformatics experience.
- Implementation of Findable, Accessible, Interoperable and Reusable (FAIR) Guiding Principles to ensure data harmonization between registries and enable computer-assisted data analyses.
- Development of new bioinformatics tools to assist researchers in omics analysis and therapeutic target identification: the UMD-Predictor, the Human splicing finder and the VarAFT. To date, these tools have contributed to more than 1,000 research studies.
- Connection to other collaborative European projects such as ELIXIR and the Biobanking and Biomolecular Research Infrastructure Large Prospective Cohorts (BBMRI-LPC).
RD-Connect, NeurOmics and EURenOmics have greatly contributed to the progress in rare diseases research. Many more challenges remain, but they can be tackled only by supporting, reinforcing and expanding similar types of collaborative initiatives.
For details, please read the full article