We would like to highlight the following projects and networks. We believe they will be influential in the community’s future research environment.
EuroBioBank network, the first operating network of biobanks in Europe providing human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases. It is the only network dedicated to rare disease research in Europe. About 130,000 samples are available across the network and can be requested via the online catalogue. Approximately 13,000 samples are collected each year and 7,000 samples distributed in Europe and beyond. The biological samples are obtained from patients affected by rare diseases, including rare neuromuscular disorders.
RD-Connect: an integrated platform for rare disease research
RD-Connect is an EU-funded platform that enables researchers and clinicians easily access, analyse and exchange information about rare diseases. By connecting different data types – omics (e.g. genomics), clinical phenotypes, patient registries and biobanks – across institutions and countries, RD-Connect speeds up research, diagnosis and therapy development for rare diseases.
The RD-Connect integrated platform consists of three systems:
Genome-Phenome Analysis Platform enables researchers and clinicians to analyse DNA sequencing data linked to clinical information (even with no bioinformatic training!) and find patients with matching genotype and phenotype. This helps to discover new disease genes and diagnose patients.
Registry & Biobank Finder helps users find patients registries and biobanks that store data or samples on their rare disease of interest. The system provides contact information and numbers of cases registered for each disease in each registry/biobank.
Sample Catalogue lets users find rare biosamples and request them from biobanks. The system provides detailed information about individual biosamples, including not only the disease, sample type, sex and availability of genetic and registry data, but also genotype, diagnosis type, and availability of longitudinal samples and samples from unaffected family members. Users can browse sample collections using powerful filtering functions and search via disease names or codes.
All tools are available free of charge. To protect patient sensitive data, Genome-Phenome Analysis Platform is accessible only to registered and verified researchers and clinicians.
TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network’s focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide.
Solve-RD is a large European research project funded by the EU for five years (2018-2022) under Horizon 2020. The consortium will work directly with four European reference networks (ERNs) to improve the diagnosis of rare diseases. The main ambitions are to solve large numbers of rare diseases for which a molecular cause is not known yet by combined omics approaches, and to improve diagnostics of rare disease patients through a “genetic knowledge web”.