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The official journal of Orphanet, the portal for rare diseases and orphan drugs.

Francesc Palau, MD, PhD, Hospital Sant Joan de Déu Barcelona and CIBERER, Spain 
Deputy Editor-in-Chief
Brett J. Bordini, MD, Medical College of Wisconsin, USA

Aims and scope

Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports which do not present clinical or pathological findings that can provide information about the mechanisms of a disease. Case reports which just present phenotype information, should not be considered.

About Orphanet

Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.
Orphanet makes available: 


  1. Authors: Fábio Fernandes, Georgina del Cisne Jadán Luzuriaga, Guilherme Wesley Peixoto da Fonseca, Edileide Barros Correia, Alzira Alves Siqueira Carvalho, Ariane Vieira Scarlatelli Macedo, Otavio Rizzi Coelho-Filho, Phillip Scheinberg, Murillo Oliveira Antunes, Pedro Vellosa Schwartzmann, Sandrigo Mangini, Wilson Marques and Marcus Vinicius Simões

  1. Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson

  2. Authors: Renzo Galanello and Raffaella Origa


Thematic series
MedTech Innovation & Rare Diseases


Review series
Living with a rare disease
Collection published: 18 February 2015


Thematic series
Rare Disease Day 2014
Collection published: 28 February 2014


Cross journal collection
Rare Diseases Day 2013
Collection published: 28 February 2013

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Rare Disease Day 2024 (February 29th)

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, we will also present our annual Rare Disease Day content, featuring our newly published blog posts on this topic.

Messages from OJRD editors for the Rare Disease Day 2024

New Content ItemEditor-in-Chief Francesc Palau
Rare diseases are not exceptions to the general rules of disease biology and pathophysiology; they are, really, the exceptions on which the general rules are based. Rare diseases represent one end of the continuum of ways of getting sick. All biological systems, and the human being is a system integrated into an ecological framework with which it interacts, follow the same rules. Common disorders are the other end of the continuum. In fact, common diseases (e.g., ischemic heart disease) are a collection of different pathologies that are expressed as the same clinical phenotype, a phenotype that can also be the expression of a rare disease. Ischemic heart disease may be due to a reduction in coronary flow and myocardial oxygenation due to obstruction generated by one or more atheromatous plaques; The generation of atheromas is related to many factors that affect lipid metabolism such as intake, obesity, diabetes mellitus, or a sedentary lifestyle, which are common in today's societies. However, they are also related to genetic lipid disorders, such as familial hypercholesterolemia. Diverse primary causes but shared biological pathways and identical or similar medical outcomes. It is the continuum as a reality of human illness, and rare diseases as a form of expression of this reality. Actions on rare diseases are also actions that help us better understand and focus on common diseases. We talk about shared biological processes in the uncommon and the frequent, between the rarity and the common; but beyond this communion and the frequency of diseases, we ask ourselves, are there differences between rare and common diseases so that we classify them into separate categories, and what are these differences? There are various aspects to take into account, among which we highlight two here, one medical and another of a healthcare nature, which make us affirm, today, that the answer is affirmative. Firstly, and within clinical medicine, rare diseases occur more frequently in the pediatric age (in the fetus and newborn and the first two decades of life), affecting human development and almost complete biography of the individual; They have a genetic cause, are hereditary and have a risk of recurrence (estimated at 80 percent of cases); they usually have a systematic or syndromic semiological expression; they occur much less frequently; they represent many more nosological entities; and environmental factors, while still being important, have less influence on its development and clinical expression. A second aspect affects health care: rare diseases show specificities such as (i) the need for multidisciplinary and integrative care, with incorporation into specific and well-defined circuits of primary care, specialized proximity or area care and care from network reference centers; (ii) the connection between the different societal and health services in proximity to the patient that take into account the diversity of the diseases and the geographical dispersion (urban and rural) of the patients. From OJRD, we want to draw attention to our commitment in these aspects, but also in others that require our attention as disseminators of knowledge in rare diseases such as scientific, epidemiological, psychological, health economics, aspects related to public health and the participation of people living with a rare disease in research that directly concerns them.

Deputy Editor-in-Chief Brett Bordini
This Rare Disease Day offers an opportunity for us to reflect on and show gratitude for the tireless efforts and advocacy of all in the rare disease community. As we look to the year ahead, we continue to hope and strive for long-awaited breakthroughs in diagnosis, treatment, and policy, while recognizing the critical role of expanding access to rare disease care to all who need it. Wishing you all a healthy and safe 2024!

Managing Editor Jordi Pijuan Marquilles
One more year, on Rare Disease Day, we take the opportunity to acknowledge the dedication of everyone within the rare disease community: healthcare professionals, researchers, patients, and families. Today is not only a day to reflect on the challenges faced by people with rare diseases, but also to celebrate their determination to overcome any kind of obstacle. Of course, it is also a day to emphasize the need for advancements in diagnosis, treatment, and policies regarding rare diseases. Each breakthrough in these areas brings hope to countless patients and families worldwide. Day by day, we should continue our collective efforts to expand access to rare disease care for all who require it. Together, we can work towards achieving a healthier and more inclusive future!

Lead Section Editor Bruno Donadille
More than my poor words, I truly was moved when I saw the YouTube video on the, and I think that this is a global, patient-centered media that deserves to be seen by doctors.

Lead Section Editor Nan Wu
As Rare Disease Day 2024 is approaching, we are thrilled to announce the release of clinical guidelines for the Ehlers-Danlos Syndromes (EDS). In 2023, we established the Chinese Multi-Disciplinary Working Group on EDS and published the Chinese Guidelines for Diagnosis and Treatment of EDS (the Guidelines). The very first Guidelines on EDS highly recommend a coordinated multi-disciplinary team (MDT) approach for the diagnosis and management of EDS and emphasize integrating support from nursing care, rehabilitation, psychology, and nutrition. We hope our Guidelines will not only help patients and families cope with the disease and raise awareness among healthcare professionals, but also empower the EDS community to explore life's possibilities and live life to the fullest potential. In the past year, we initiated and participated in MDT meetings for patients with various subtypes of EDS as well as other rare diseases. On Rare Disease Day, we share colors and show stripes that rare is many, strong, and proud. Looking ahead, we will continue contributing to the field of rare diseases and making this world a better place for each and every one of us!

Lead Section Editor Ertugrul Cagri Bolek
Vasculitis, a group of rare inflammatory diseases characterized by inflammation in blood vessels, brings together unique challenges in diagnosis and management. With the potential for multisystem involvement, distinguishing among various subtypes of vasculitis and mimicking disorders can be complex, compounded by the presence of monogenic variants described as 'hiding in plain sight' within some phenotypic classifications. Misdiagnosis and treatment delays remain significant issues and can cause life-threatening damage across multiple organ systems. Managing these intricate diseases requires an experienced and multidisciplinary team; it is truly a 'team play.' While advancements in scientific knowledge and treatment options are promising, there still needs to be a critical unmet need for addressing the gaps such as pathogenesis, biomarkers, disease monitoring, and precisional medicine through translational research. Awareness and experience transfer are crucial, so being part of international networks/collaborations that interactively involve physicians, researchers, and patients with rare diseases is an inevitable necessity.

Section Editor Isabelle Audo
On this Rare Disease Day 2024, we have to emphasize the huge effort that is made lately to promote better management and care of subjects affected with rare disease which creates unique opportunities especially in the environment of European rare disease networks (ERNs). The past decades have also seen an increasing number of clinical trials raising hopes for the treatment of incurable diseases. These past years emphasize also the need for the development of better clinical endpoints for rare diseases and more specifically outcomes meaningful to patients, the center of our care, which would be accepted by regulators in order to have relevant innovation coming to the market.

Section Editor Maria Luisa Brandi
I dedicated my life to rare diseases, and I’m grateful to my patients for the lessons they gave to me. What makes me a different doctor is certainly this experience. I owe my patients what I am today. Thanks, thanks, thanks.

Section Editor Peikai Chen
Studying rare diseases for the benefits of both rare and common disease studies, and the urgent need to establish rare disease molecular databases. For decades, researchers in biomedical sciences have been relying on animal models, especially transgenic mouse models wherein one or a few genes were mutated or knocked out, to study the impact of individual genes or to trace the descendants of some cell-types in the animals, in order to establish such molecular and cellular functions underlying human diseases. Unfortunately, very often such operations did not yield the same or even similar phenotypes in humans carrying the same mutations, posing great difficulty in utilizing such vehicles for studying human disease mechanisms. There are many reasons, but human-animal difference is possibly one of them. However, scientists cannot perform the same operations on humans due to apparent ethical concerns. It turns out, data from rare disease studies may serve this purpose. Rare diseases are often caused by one or a few high-penetrant pathogenic variants. The phenotypic, molecular, and cellular data from such patients thus harbor information not just about the rare diseases themselves, but also about the biological processes and pathways on which these affected genes acted. Such information may thus help enhance the interpretability of studies from genome-wide association studies of complex common diseases, where most of the associated loci lack proper mechanistic interpretations. Databases such as OMIM and ClinVar already contain huge information on the relations between genetic variants and diseases, but databases on the hierarchies in-between them, including tissue-specific molecular and cellular events, remain outstanding. It is hoped that initiatives for such databases may be established sooner to achieve their long-awaited goals.

Section Editor Marc Dooms
We need to pay more attention to durability and orphan drugs. For many authorized orphan drugs, stability studies were never performed, and the label "discard after use" was put on the package insert. This creates a large amount of toxic garbage, lost money, logistic organization, and waste incineration, threatening nature. We cannot compromise the ability of future generations to meet their own needs.

Section Editor Anneliene Jonker
Wishing you a very happy Rare Disease Day 2024! Let’s continue to build the future for rare diseases together by continuing and bringing together budding fields such as ultra-personalized medicines, medical devices, and data sciences. Together we can make a difference.

Section Editor M. Estela Rubio-Gozalbo
Treatment is currently still lacking or needs improvement for a majority of inborn errors of metabolism. The technical advancements of the last decades have opened up new avenues for treatment, and the landscape is rapidly changing. This is inspiring and encouraging but also challenging. There are many unknowns in our journey towards improved patient care. Hence, robust scientific evidence, ethical considerations, and societal impact need to be carefully addressed.

Section Editor Thorakkal Shamim
In India, we manage rare diseases using a holistic and empathetic approach, incorporating psychological and palliative strategies.

Section Editor Anna Shcherbina
Inborn errors of immunity (IEI) (formerly primary immunodeficiencies) have been the topic of my professional and research interest for more than 30 years. Reflecting on the changes in the field during this time, it is amazing to see how much we have advanced in molecular and immunological methods of diagnosis, targeted treatment of these diseases, and the general concept of IEIs. With the introduction of neonatal screening and increased disease awareness, we now know that IEIs are not as rare as we thought (1:6,000 is a very modest estimate) and that all ages are affected. Studying these diseases led us not only to better understand their pathology but also to understand the intricacies of normal immune function. I am immensely grateful to the patients and their families – for education in immunology and in courage.

Section Editor Antoni Riera-Mestre
The experience of working with and for patients with rare diseases is both encouraging and gratifying. These patients and their families need specific attention with an interprofessional approach and therapies that prevent the progress of the disease. To reach these goals, research for providing new insight and therapeutic targets for rare diseases is mandatory for improving the management of these patients.

Editorial Board Member Fowzan Alkuraya
We owe so much of the recent breakthroughs in precision medicine to our improved understanding of rare diseases. Make no mistake, our investment in rare diseases is a worthwhile investment that goes far beyond the patients who live with these conditions. They should have our gratitude and full commitment as a medical community.

Editorial Board Member: Christina Zeitz
Inherited Retinal Disorders (IRDs) are a major cause of blindness worldwide; together they have an incidence of 1:2000. However, these disorders are clinically and genetically heterogeneous. They can be stationary or progressive, leading to complete vision loss. Many genes underlying these disorders have been identified, revealing disease-causing variants in known and novel genes, but for ~30% of the cases the genetic defects are unknown. The common goal of researchers and clinicians working on IRDs is to explain this missing heritability. Attempts to decipher this mystery are being made. Recent genotype-phenotype correlations have highlighted that genes previously only associated with syndromic forms of IRDs can also cause non-syndromic IRDs. Similarly, variants for a long time ignored intronic, regulatory, or structural variants can be disease-causing. Future studies will show whether these novel variants, to be validated by in vitro or in vivo modeling, may explain all cases with IRDs.

Rare Disease Day article: Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being

Leisha Devisetti, a University of California Berkeley student, is the winner of the 2023 Student Voice Competition. In her article, she discusses the significant challenges posed by rare diseases, particularly in terms of the limited research and understanding surrounding them. The article aims to highlight the importance of acknowledging and addressing uncertainty during diagnoses, advocating for better detection methods, improving medical communication around rare diseases, ensuring access to accurate information and services, and fostering a culture that prioritizes patient well-being.

Rare Disease Day blog: Rare Diseases: How Language and Format Affect Inclusive Study Recruitment and Recommendations to Mitigate this

Chandan Sekhon, a student at Cambridge University, and one of the finalists of the 2023 Student Voice Competition, writes about how language and format barriers can hinder recruitment of diverse participants, and she emphasizes the importance of inclusive clinical research, particularly for rare diseases. The article suggests diversifying recruitment methods, conducting pilot studies, and adopting patient-oriented approaches to maximize inclusivity and ensure the benefits of research apply to all affected individuals. Read here this interesting blog post.

Rare Disease Day blog: Endless Uncertainty: Living with a rare condition

Iman Muzafar, a student at Kings College London and the finalist of the 2023 Student Voice Competition, shares the poignant journey of a patient advocate with a rare condition, shedding light on the challenges of misdiagnosis and poor clinician communication. Read her insightful post here.

Rare Disease Day blog: Navigating a Rare Diagnosis: Sources of Information and the Medical Professional’s Role

Another finalist of the 2023 Student Voice Competition is Oreoluwatoni Oduwole, a student at the University College London. In her blog post, Oreoluwatoni discusses the evolving role of doctors in providing information to patients with rare diseases. It emphasizes the importance of directing patients to trustworthy online resources and supporting continual learning for both doctors and patients. The story highlights the need for personalized approaches to supporting patients with rare diagnoses. Check out this informative post here.

Call for Papers: New Therapeutic Approaches for Rare Diseases

New Content ItemThe advent of genetic therapies is set to make rare diseases a major area of innovation, with single gene defects being the ideal targets for the development of advanced medicinal therapy products, such as gene therapy and other innovative genetic therapies (e.g. mRNA therapy and antisense oligonucleotide therapy). We set out to explore how these technologies are being applied and how this might change our practice in the future. To achieve this overarching goal we invite those with a particular individual, scientific and clinical interest in this highly dynamic field to submit original articles and reviews. Read more about the scope here.

Featured series: Innovative Methodologies for Rare Diseases Clinical Trials

New Content ItemWithin the EJP RD (European Joint Programme on Rare Diseases), Work Package (WP) 20, "Accelerating the validation, use and development of innovative methodologies tailored for clinical trials in RDs", recognizes and addresses methodological challenges in clinical trials for rare diseases. These challenges include gaps in knowledge of best practices and innovative methodologies. Several actions have been implemented to overcome these gaps. Find out more about the scope of the series here.

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

New Content ItemWe 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

New Content ItemOur 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.

Cushing’s Hub Webinar Series 2023 – Registration Now Open!

The Cushing’s Hub Editorial Board is delighted to announce the second event in the Cushing’s Hub Webinar Series – Explore Real-World Clinical Scenarios in Mild Autonomous Cortisol Secretion (MACS) on Tuesday 24 October at 16.00–17.00 Central European Time.

Chaired by Dr Susan M. Webb, Barcelona, Spain, watch panellists Assoc. Prof. Iacopo Chiodini, Milan, Italy, and Dr Irina Bancos, Rochester, MN, USA discuss, using practical case examples, the challenges surrounding the clinical management of low-grade excessive cortisol secretion and take questions from the audience.

An application has been made to the UEMS EACCME® for CME accreditation of this event.

Click here to register.

PNDS Recommendations

New Content ItemWe 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!


In collaboration with Dr. Robert Pignolo and an international faculty of experts, Springer healthcare IME has developed an independent educational program entitled, FOP: Recognition, Treatment and Hope. Highlighting a rare disease that is too often under-diagnosed or misdiagnosed, this free-to-access program aims to raise awareness and highlight the advances being made which have the potential to change the outlook for people with fibrodysplasia ossificans progressiva (FOP). Two resources are CME-accredited, an interactive case-based webcast and eLearning modules, both of which cover important topics within the diagnosis and management of FOP. Also included is the opportunity to test your knowledge through an image-based clinical diagnosis quiz, submit a case to our panel of experts for review, keep up-to-date on the latest news and find the FOP specialist center nearest to your location.

Announcing the launch of In Review

Orphanet Journal of Rare Diseases, in partnership with Research Square, is now offering In Review. Authors choosing this free optional service will be able to:

  • Share their work with fellow researchers to read, comment on, and cite even before publication
  • Showcase their work to funders and others with a citable DOI while it is still under review
  • Track their manuscript - including seeing when reviewers are invited, and when reports are received 

See what the Orphanet Journal of Rare Diseases In Review platform looks like

Affiliated with

  • Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs.

Annual Journal Metrics

  • Citation Impact 2023
    Journal Impact Factor: 3.4
    5-year Journal Impact Factor: 3.9
    Source Normalized Impact per Paper (SNIP): 1.464
    SCImago Journal Rank (SJR): 1.182

    Speed 2023
    Submission to first editorial decision (median days): 32
    Submission to acceptance (median days): 178

    Usage 2023
    Downloads: 3,764,904
    Altmetric mentions: 2,729