Rare Disease Network

collections

Data & sample collections

6 collections

  • ERN-CRANIO

    ERN CRANIO
    Registry focused on the outcome of treatment using standardised diagnosis specific outcome sets (starting with craniosynostosis and cleft lip/palate) - including patient reported outcome measures and outcomes on patients’ quality of life.

  • ERRAS

    ERN SKIN
    ERN SKIN covers the medical field of rare, complex and undiagnosed skin disorders in children and adults. Most of them are exclusively cutaneous/sub-cutaneous and often present a severe prognosis, because of the intensity of the cutaneous/mucosal involvement, the risk of cancer for some of them, or the frequent multisystemic involvement directly or secondary to skin damages.

  • GENTURIS

    ERN GENTURIS
    The GENTURIS registry is affiliated to ERN GENTURIS. ERN GENTURIS is the European Reference Network for all patients with a genetic tumour risk syndrome (GENTURIS). The GENTURIS registry enables sharing of knowledge and resources from expertise centers across Europe to improve diagnostics, treatment and prevention of cancer in patients with genetic tumour risk syndromes.

  • ILIAD

    ERN ITHACA
    The main objective of ILIAD registry is to set up an interoperable registry dedicated to rare diseases within the scope of ITHACA. We intend to develop a single, trans-ERN "meta-registry" of patients with developmental anomalies (dysmorphic/Multiple Congenitital Anomalies syndromes and/or neurodevelopmental disorder) recruited by ERN ITHACA.

  • NESTOR

    NEtherlandS genetic TumOr Risk Registry
    The Netherlands Genetic Tumour Risk Registry NESTOR Registry is the Dutch registry for patients with genetic tumour risk syndromes (genturis). It is associated with 8 Dutch centres participating in the KWF NESTOR project and serves as a comprehensive resource for all patients with one of the rare genetic tumor risk syndromes.

  • ReCONNET

    ERN ReCONNET
    The main aim of ERN ReCONNET is to improve the management of rare connective tissue and musculo-skeletal diseases (rCTDs) across the EU. The main objectives of ERN ReCONNET are: • Realisation of the potential of European cooperation among rCTDs stakeholders, by providing a stable and fully functioning European infrastructure on rCTDs • Provision of highly-specialised care for rCTDs patients and promotion of improvements in the cost-effective delivery of diagnosis, management and monitoring of rCTDs patients • Pooling, advancing and exchanging of knowledge and information on rCTDs by providing training and education for rCTDs stakeholders and by facilitating the mobility of expertise • Stimulating and encouraging collaborative patient-centered research in rCTDs • Promoting the empowerment and the involvement of rCTDs patients in the rCTDs community

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