European Reference Networks (ERNs) assemble THE European clinical expertise centres for rare diseases. Four ERNs form the clinical core of Solve-RD due to their unsolved RD cohorts, diagnostic research expertise and infrastructure.
ERN-RND focusses on rare movement and cognitive disorders such as ataxias, hereditary spastic paraplegias (HSPs), frontotemporal dementias (FTDs), and paroxysmal disorders. The following ERN-RND members are involved in and contributing to Solve-RD:
- Beneficiaries: University Hospital Tübingen, Radboud UMC Nijmegen, INSERM Brain & Spine Institute, UCL Institute of Neurology
- Associated partners: University of Ljubljana, Ljubljana, Slovenia (Borut Peterlin); University Hospital Schleswig-Holstein, Lübeck, Germany (Katja Lohmann), Vall d'Hebron Barcelona Campus Hospital, Barcelona Spain (Alfons Macaya)
ERN-EURO NMD focusses on neuromuscular disorders (NMDs) such as congenital and limb girdle muscular dystrophies, hereditary neuropathies, congenital myasthenic syndromes, muscle chanellopathies, and mitochondrial NMDs. The following ERN-EURO NMD members are involved in and contributing to Solve-RD:
ERN-ITHACA focusses on rare congenital malformation syndromes and intellectual disability. The following ERN-ITHACA members are involved in and contributing to Solve-RD:
ERN-GENTURIS focusses on patients with one of the rare genetic tumour risk syndromes such as colorectal cancer, paragangliomas, and gastric cancer. The following ERN-GENTURIS members are involved in and contributing to Solve-RD: