Skip to main content

Diagnosis of rare diseases – strategies and structures

Edited by:
Francesc Palau, MD, PhD, Hospital Sant Joan de Déu Barcelona and CIBERER, Spain
Holm Graeßner, PhD, University Hospital Tübingen, Germany

Rare diseases affect 30 million people in Europe and more than 300–400 million worldwide, often causing chronic illness, disability, and premature death. People living with rare diseases often face a diagnostic odyssey, typically waiting years for a diagnosis and often receiving multiple misdiagnoses along the way. Diagnosis is still an important medical need. Ultimately, each rare disease patient’s journey depends on diagnosis to receive appropriate care, and treatment.

In recent years, innovative strategies and structures have been introduced, validated and implemented to address the diagnostic problem of rare diseases on a more systematic level. These strategies and structures reach from local, regional, national and international care pathways and infrastructures, care networks that use the collective intelligence of rare disease experts, patient driven initiatives, systematic use of novel diagnostic technology and methodologies as well as data sharing to artificial intelligence and machine learning approaches.

Recent EURORDIS survey has indicated that two aspects that pertain to healthcare organizations - access to an expertise center and to genetic testing - are key to shortening the diagnostic odyssey. This points to the necessity of translating and deploying research findings in robust diagnostic processes and infrastructures.

Development of these processes and structures for the diagnosis of rare diseases faces many of the same challenges as in other disease areas such as access to the right experts, access to tests and testing services as well as availability of resources. However, there are challenges that are specific to rare disease diagnosis such as limited diagnostic rates, large phenotypic complexity, permeable boundaries of care and research, etc. As such, the time has come to focus on innovative solutions that are able to address these critical challenges.

This new series from Orphanet Journal of Rare Diseases will explore the strategies and solutions which have been developed, tested, validated and/or deployed, in order to improve diagnosis of rare disease patients.

Some areas we are looking for authors to address include:

• What are strategies and solutions that are currently being developed or deployed for diagnosis of rare disease patients? What research data support these strategies and solutions?

• What are the best ways to implement a systematic improvement for rare disease diagnosis?

• Best practice examples of local, regional, national and international care pathways and infrastructures as well as patient driven initiatives

• What are the best approaches to use of novel diagnostic technology and methodologies, data sharing, artificial intelligence and machine learning approaches

This collection is no longer accepting submissions.

Submission guidelines can be found here

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies.

  1. Locoregional recurrence is a critical factor in the prognosis of sinonasal malignancies. Due to the rarity of these tumours, as well as the heterogeneity of histologies and anatomical subsites, there is little...

    Authors: Fatemeh Kashani, BG Weiss, P Bartenstein, M Canis and F Haubner
    Citation: Orphanet Journal of Rare Diseases 2024 19:120
  2. The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, ...

    Authors: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner…
    Citation: Orphanet Journal of Rare Diseases 2024 19:66