RD-Connect has developed several bioinformatic tools to help researchers analyse omics data and identify targets for potential therapies. These include variant analysis and annotation tools as well as therapeutic prediction tools and gene-drug interaction resources, many of which are integrated in the Genome-Phenome Analysis Platform. RD-Connect Genome-Phenome Analysis Platform is a userfriendly tool that lets researchers and clinicians analyse DNA sequencing data and link them to clinical information (i.e. description of symptoms of the patients). This helps to understand how genes determine the disease symptoms and their severity, make accurate genetic diagnosis and design better treatment.Visit website
The RD-Connect Registry & Biobank Finder is an online directory of existing rare disease databases, registries and biobanks.
The RD-Connect Registry & Biobank Finder lets researchers find the rare disease patient registries and biobanks that store data on their rare disease of interest. The system provides databases’ contact data and the numbers of registered cases for each disease in the registry/biobank, regularly updated by the database curators.
Users can search the directory by disease name and its synonyms, ORPHA- or OMIM-codes and other keywords, such as the country or registry manager. The system also provides access to documents such as databases’ study protocols, case report forms, informed consent templates and data access agreements.
RDConnect Sample Catalogue helps them browse and find biosamples from rare disease patients, such as blood and DNA, which they might use and re-use for research. The Sample Catalogue lets the researchers find detailed information on individual samples stored in rare disease biobanks and provides information about the available biomaterials, such as primary cells, tissue, DNA, serum, RNA, cell lines and others. The Sample Catalogue is open to all users free of charge and contains essential information and links to the biobanks where the sample is located to facilitate requesting the samples.Visit website
The SEFALer platform is a pioneering network structure seeking to provide a comprehensive service in all phases of phenotyping animal models of rare diseases. It is structured through cooperation between services provided by CIBERER groups through different institutions.Actvities include:
1. Characterisation of animal models of human rare diseases.
*Secondary functional phenotyping in the following contexts:
– Platforms for phenotyping transgenic mice.
– Pharmacology and toxicology.
– Degeneration and regeneration studies.
– Ageing studies.
– Characterisation of experimental models forming part of behavioural, surgical studies, etc. Phenotypic selection of reproducers for stabling.
2.CIBERER database: models available, genic expression and phenotype.
3. Technical-scientific advice.
CIBERER BIOBANK (CBK) is a public and non-profit-making biological sample repository which centralices the reception of samples connected with rare diseases. It is a CIBERER initiative and it is located at the FISABIO-Salud Pública (FISABIO-CSISP) in Valencia, Spain.