Orphanet Journal of Rare Diseases

Rare Disease Day 2025

Since 2008, the last day of February has been dedicated to raising awareness about rare diseases. This global campaign is a precious opportunity for everyone to contribute to raising attention to 300 million rare disease patients and support initiatives around the world aiming to improve their lives.

To mark this day, Orphanet Journal of Rare Diseases will also highlight relevant content on the journal’s homepage, featuring our newly published blog posts and Editorials.

Find more insightful blog posts related to Rare Disease Day on the Springer Nature Research Communities website, and in the summary blog here.

Patient involvement in clinical trials: a paradigm shift in research

New Editorial by Editor-in-Chief, Francesc Palau, and Managing Editor Jordi Pijuan, highlights the critical role of clinical trials in advancing treatments for rare diseases. Patient involvement is essential for understanding unique health challenges and developing effective therapies. Read full article here.

The voice of patients and families in clinical research: towards more inclusive research for rare diseases

New blog by Jordi Pijuan, Managing editor OJRD, Sant Joan de Déu Research Institute and CIBER of Rare Diseases

“As Rare Disease Day 2025 approaches, it is imperative to reaffirm our commitment to promoting inclusive, ethical, and patient-centered research methodologies. Effective collaboration among all stakeholders (patients, researchers, and clinicians) is crucial for the development of transformative solutions that address the complex needs of individuals living with rare diseases."

Call for Papers: Current Updates in Adult Inherited Metabolic Disorders

Orphanet Journal of Rare Diseases is calling for submissions to our Collection on Current Updates in Adult Inherited Metabolic Disorders. This Collection aims to provide a comprehensive update on the current state of adult inherited metabolic disorders, fostering a deeper understanding and encouraging further research in this evolving field.

Finding Our Voices: Amplification and Quality of Life in Women with Turner Syndrome

We are delighted to present behind paper story shared by Dr. Mann and Dr. VanLooy:

”As we approach Rare Disease Day 2025, I urge you to join me in raising awareness about Turner syndrome and other rare conditions. Let us work together to amplify the voices of those with rare diseases and ensure that they have access to the care and support they need to thrive.’ Read full blog here.

A European Rare Neuromuscular Diseases Registry Hub

Antonio Atalaia shares Behind the Paper blog post on research Communities.  

Rare diseases are characterised by a shortage of patients and expertise. Providing the best care requires shared cross-border expertise and data exchange. A registry hub is best for bridging siloed patient information resources for rare neuromuscular diseases.

Read full blog here.

A therapeutic approach to pantothenate kinase associated neurodegeneration

by José Antonio Sánchez Alcázar, Professor, Pablo de Olavide University

This behind paper  blog discusses the therapeutic effects of multitarget complex supplements in the rare genetic neurological disorder pantothenate-kinase-associated neurodegeneration (PKAN) which causes neurodegeneration with brain iron accumulation.

The Student Voice Prize 2024

The Student Voice Prize is an annual, international essay competition that raises the profile of rare diseases within the medical field, particularly with medical students, nurses and scientists who may have never come across rare diseases in their training.

Beacon and Medics4RareDiseases host the competition together and the winning essay is published in The Orphanet Journal of Rare Diseases.

Congratulations to the authors of the winning and runner-up essays. We are excited to highlight this content for the occasion of Rare Disease Day 2025.

Featured series: Diagnosis of rare diseases – strategies and structures

We are pleased to announce a new thematic series, edited by Francesc Palau (Hospital Sant Joan de Déu Barcelona and CIBERER, Spain) and Holm Graeßner (University Hospital Tübingen, Germany). This new series will explore the strategies and solutions which have been developed, tested, validated and/or deployed, in order to improve diagnosis of rare disease patients. You can find more information about the scope of the series here.

Featured series: Medical technologies for rare diseases

We are pleased to announce a new thematic series, guest edited by Anneliene Jonker (University of Twente, The Netherlands) and Marc Dooms (University Hospitals Leuven, Belgium).

Orphan devices constitute a very diverse group of products, reflecting the broad field of rare disease. Many orphan devices provide essential functions for patients with rare diseases, their carers, and the healthcare professionals using them. Nevertheless, there are very few medical devices that are specifically developed for rare diseases, while many patients and carers express a substantial unmet need for new medical devices for their conditions. This new series will explore the questions which need to be answered, in order to raise the profile of this field, helping current and future rare disease patients worldwide. Find out more about the scope here.

Featured series: Undiagnosed rare diseases

Our new thematic series, guest edited by David Adams, delves into the challenges and opportunities which exist for patients living with undiagnosed rare diseases. We are looking to publish material which speaks to the importance of a diagnosis, of utilizing individual approaches in treating patients, of functional studies, and the best ways to share information. For more information about the series (including submission info), please click here.

PNDS Recommendations

We are proud to present the first of a series of recommendations from the PNDS on rare Autoimmune and Autoinflammatory Disease. This first set is about the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides). Read more here!