The European Rare Diseases Research Alliance (ERDERA) was launched in September 2024 with a budget of 380 million euros, marking a significant commitment from the European Union, Horizon
Europe, and member states.
Coordinated by the National Institute of Health and Medical Research (INSERM) in France, this partnership unites over 170 organizations from 37 countries, from the public and private sectors, to advance rare disease research and innovation.

The University of Siena partecipates with the research team coordinated by professor Alessandra Renieri, from the Department of Medical Biotechnology.

Professor Renieri outlined here the ongoing activities and progress of the ERDERA project, that aims to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in Rare Disease research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment.
Which are the ERDERA dataset inclusion criteria and data standards?
“ERDERA will collate datasets from undiagnosed patients (and relatives) submitted re-analysis by European Reference Networks ERNs to which Medical Genetics of Siena belong to. Dataset inclusion criteria are: undiagnosed patient with a suspected rare mendelian disorder (with or without additional family members); molecularly unsolved cases or partially solved cases (e.g. missing a second pathogenic variant for a biallelic disorder). In such cases, the first variant will have to be indicated during data submission”.
Which is the platform of genetic data re-analysis? 
“The CNAG is implementing a new version of the RD-Connect GPAP platform to serve ERDERA with updates to the pipeline, now supporting version 38 of the genome and new variant types, including CNVs and SVs. This implementation is expected to be released before the end of 2024 and will include expanded annotations and filtering options, such as MANE transcripts, Ensembl variant consequences, or SpliceAI REVEL predictions, offering more comprehensive insights for your genomic analyses”.
Which are the timelines for data submission?
“Based on anticipated numbers of unsolved datasets per center and limitations in terms of consent and HPOs and on criteria defined by the Data Availability Committee, centers were selected and informed that qualify for data submission in year 1 Data submission will be organized in slots and each center will be individually approached by the CNAG team and the diagnostic research workstream office in due time to provide guidelines and to get everything prepared. Dedicated training activities are also planned in coordination with WP20 to educate all partners of the Diagnostic Research Workstream on how to submit genomic and clinical data for re-analysis or on clinical annotation using HPOs to optimize integration of phenotypic data in downstream analyses and variant prioritization”.

The Partnership will deliver a Rare Disease ecosystem that builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in Rare Disease research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU innovation potential in Rare Disease.