Preannouncement ERDERA 2027: Catalysing Collaborative Research for Recently Identified Rare Diseases

To be eligible, the disease must meet both of the following criteria:

1. The disease must have been first reported in the peer-reviewed literature on or after January 1st, 2010, including the association of the disease with a suspected causative mechanism (e.g. gene-disease association). Applicants must provide the primary publication reporting this (PMID or DOI), together with the OMIM and/or MONDO identifier of the disease where available. 
2. The disease must be registered in Orphanet (or be in the process of registration) at the time of application. For diseases not yet registered, applicants must provide evidence a registration request has been submitted to and acknowledged by Orphanet together with the expected registration timeline.

Proposals may address a single disease or a small group of closely related diseases (e.g. sharing a causative gene family or pathway), provided that each disease addressed meets both criteria. 

Research proposals should cover at least one of the following areas:

• Natural history studies and patient registries, including those designed to support clinical trial readiness. Where feasible, these should incorporate the development and application of patient-reported outcome measures. The exploration of standardised health-related surveillance instruments and patient-entered data as means of capturing natural history information is also encouraged;
• Identification and validation of biomarkers of disease pathophysiology or progression, including biomarkers supporting patient stratification, natural history characterisation, or future clinical trial readiness. Biomarker discovery and validation are in scope where they support mechanistic understanding or disease monitoring; development of a biomarker-based test or assay intended for clinical diagnostic use is out of scope (see 4.2);
• Development of in silico, cellular (including patient-derived iPSC and organoid models) and animal models that faithfully recapitulate the human condition, including the generation of new disease models where none currently exist, to be established within the course of the project;
• Elucidation of pathophysiological pathways, including studies aimed at identifying disease mechanisms that may inform future therapeutic strategies.

Countries participating in the call: Austria, Belgium, Bulgaria, Canada, Estonia, France, Hungary, Ireland, Italy, Latvia, Lithuania, Luxemburg, Norway, Poland, Portugal*, Czech Republic, Romania, Slovakia, Spain, Sweden, Türkiye.

*Decision pending