Rare Disease Day 2026: Diverse community, common challenges

February 27, 2026 PLOS ONE Editors Events

This blog was prepared and written by PLOS One Associate Editor Alejandro Torrado Pacheco.

Since its inception in 2008, Rare Disease Day is observed annually with the objective to build community, drive advocacy efforts, and raise awareness of the challenges that people with rare diseases face. By bringing together the stories of people living with rare diseases, their families and carers, and the international community of researchers and healthcare professionals, Rare Disease Day has been central to highlighting barriers to equity and access for this vulnerable population.

It is estimated that more than 300 million people worldwide are living with a rare disease. This number represents a broad range of conditions, as there are more than 7000 recognised rare diseases in the world: over 75% are genetic conditions, while approximately 20% of cancers are considered rare. Despite the diversity in geography and clinical presentation, people living with rare diseases face universal challenges. On average, patients wait 5 years or more to receive a diagnosis, while facing much higher medical costs than people with non-rare conditions. Even when a diagnosis is finally obtained, treatment options are scarce: for instance, fewer than 5% of rare disorders have an FDA-approved treatment in the United States.

The latter point also underscores how difficult it is to develop new drugs and treatment options for disorders that affect comparatively few people worldwide. Creating meaningful change in this area will require technological advances and innovations in the scientific process, but also cooperation among scientists, healthcare providers and scientific publishers. Ensuring equitable access to scientific knowledge, education on and awareness of rare diseases is key to advancing the availability of healthcare, timely diagnosis and treatment or management of rare diseases.

To explore these themes further we interviewed a pool of PLOS One Academic Editors: Dr Miriam Hickey (Associate Professor at the Institute of Biomedicine and Translational Medicine, University of Tartu), whose work focuses on translational neuroscience and genetic disorders such as Wolfram Syndrome; Dr Fátima Macedo (Assistant Professor in the Faculty of Medicine and Biomedical Sciences at University of Algarve) with expertise in rare disorders such as Gaucher disease and Williams syndrome; Dr Claudia Brogna (Medical Doctor at the Policlinico Universitario Gemelli) whose work focuses on rare neuromuscular disorders such as spinal muscular dystrophy and Duchenne muscular dystrophy; and Dr Kenji Fujiwara (gastrointestinal surgeon at Kimura Hospital) with expertise in rare cancers such as pancreatic adenocarcinoma. Their responses demonstrate a shared awareness of the difficulty in obtaining diagnoses for rare disorders, and the significant hurdle this poses to both clinical care and the advancement of our scientific understanding of rare disorders. Agreement emerged on the need for improved modeling of disorders, as well as the need for increased education of primary healthcare providers.

One of the goals of Rare Disease Day is to advocate for equity in terms of access to resources, healthcare and diagnosis for people living with a rare disease. What are your thoughts on the obstacles that people living with rare diseases face in terms of obtaining an accurate diagnosis? How does this impact the research undertaken by yourself and your colleagues?

Miriam Hickey: One issue with rare diseases is that it typically takes much longer for patients to obtain a diagnosis, or they may remain undiagnosed. This can be due to a number of reasons but can sometimes be caused by a lack of awareness or the need for many specialists to reach a diagnosis. This places a burden on patients, their families and their communities, and delays accurate treatment. We work with accurate models of rare disease to improve understanding of symptoms and pathology, as well as the underlying pathophysiology. By increasing knowledge of symptoms, pathology and their progression, we hope to support earlier recognition and diagnosis of the disease.

Fátima Macedo: There are several obstacles that people living with rare diseases face to obtain an accurate and timely diagnosis. The principal obstacle is the lack of education of general doctors on rare diseases. A rare disease is rare, so that is not the first thing the doctor thinks when facing the patient. This has a profound impact on patients’ life but also on rare disease research. One of the consequences of delays in diagnoses is the low representation in clinical cohorts of patients at the early stage of disease and lack of information on the natural history of the disease. The consequence is that the identification of disease biomarkers, one of the research aims of my research lab, becomes more difficult.

Claudia Brogna: People with rare diseases most often suffer from delays in obtaining diagnoses as they present with non-specific symptoms, making early identification difficult. The rarity of the disease often results in limited knowledge among general practitioners or pediatricians, who don’t always recognize the initial symptoms. In addition there are regional disparities in access to testing: limited accessibility to genetic testing, combined with regional differences in the quality of care networks, creates significant inequities. These issues can also have an impact on research as they make it difficult to achieve timely recruitment of participants for clinical trials.

Kenji Fujiwara: I am a general surgeon, so rare diseases are relatively familiar to me. Many surgeons share this experience. Patients who have not yet been diagnosed but present with severe symptoms come to any available hospital. They often do not have time to wait for a definitive diagnosis, so surgeons sometimes need to begin an operation without a confirmed diagnosis. I experienced this in Japan, a high-income country where most hospitals—and even many clinics—have access to CT scans. I imagine that in many middle- and low-income countries, even more surgeries are performed without a clear diagnosis due to limited diagnostic resources.

One of the consequences of delays in diagnoses is the low representation in clinical cohorts of patients at the early stage of disease and lack of information on the natural history of the disease
Fátima Macedo

Translating research findings into effective clinical care is challenging in any discipline, but perhaps especially so in the field of rare diseases. What do you see as the key challenges in this? How do you think these could be overcome?

Miriam Hickey: Unfortunately, this is a problem with many different diseases, and particularly so in rare diseases because of the smaller population. This smaller population requires innovative clinical trial design — but these designs are being developed, and PLOS One plays an important role in disseminating that work.
There are many excellent organisations that work with and provide funding to study rare diseases. Increased understanding of commonalities and key differences between conditions is critical, and accurate modeling is vital. Importantly, these rare diseases can provide insights that extend to more common disorders, so supporting research for rare diseases has broad scientific value.

Fátima Macedo: A key challenge is the geographic dispersion of patients, who are followed at different hospitals by different physicians. Therefore in order to effectively translate research findings, it is essential to create and maintain collaborative clinical networks between different hospitals and research institutes.

Claudia Brogna: Limited numbers and geographic dispersion of patients, who are often spread across the world, is a key challenge, as the low prevalence makes it difficult to recruit a sufficient number of participants for statistically robust clinical studies. In addition there is also a lack of biomarkers and “natural history”: many rare diseases are poorly understood from this point of view. This absence of longitudinal data and validated biomarkers makes it difficult to measure the effectiveness of new drugs. Lastly, there is clinical and genetic heterogeneity: even within the same disease, patients can present with very different symptoms, complicating the identification of uniform clinical endpoints.

Kenji Fujiwara: After surgery, intraoperative findings or pathological results may reveal that the condition was a rare disease or a complication of one. Rare diseases are extremely difficult to study through large-scale trials because of the limited number of patients. Therefore, even a single well-documented case report can have a meaningful impact. Systematically summarizing case reports can also generate valuable evidence in fields where randomized trials are not feasible.

…when facing a rare condition, access to open literature can directly influence patient care.
Kenji Fujiwara

What innovations in technology or the scientific process do you think have the potential to impact clinical care for people living with rare diseases?

Miriam Hickey: From the point of view of technological advances, AI could provide great benefit by recognising symptom patterns or patterns in pathology. However, this relies on high-quality real-world data, including data from accurate models and clinical data.

Claudia Brogna: Key elements that have high potential for impact are innovation and translational research, early diagnosis and holistic management of disease, including rehabilitation programs, technological aids, and psychosocial support.

Increased understanding of commonalities and key differences between conditions is critical, and accurate modelling is vital. Importantly, these rare diseases can provide insights that extend to more common disorders, so supporting research for rare diseases has broad scientific value.
Miriam Hickey

Raising awareness of rare diseases and the challenges faced by this particular and diverse patient population is one of the key goals of Rare Disease Day 2026. What do you see as the role of research scientists and healthcare providers in this? And what might the role of publishers be?

Miriam Hickey: Public understanding and awareness are very important and scientists play an important role in that. We hold regular public education events where we discuss our recent results with the public, including our work on rare diseases. We get the most wonderful questions from our audiences and great feedback. This shows their curiosity, strong ability to understand our work, and a deep appreciation of its importance.

Publishers also help by increasing awareness among peers — highlighting areas for further research and encouraging entry of new researchers to the field.

Claudia Brogna: Researchers and healthcare professionals should actively participate in training events, both for the public and other colleagues, to spread awareness of the diseases and the latest treatment options. The clinician’s role is crucial in “listening and acting together” with patients, sharing their stories to guide research and improve quality of life. Researchers and clinicians must use disease registries and real-world evidence to evaluate the effectiveness of treatments and support reimbursement requests for innovative drugs.

The role of publishers is to disseminate knowledge and raise awareness of the challenges inherent to rare diseases, in addition to giving visibility to clinical trials, epidemiological studies, and case reports on rare diseases, and encouraging knowledge sharing among international researchers. Finally, promoting open access to scientific articles on rare diseases, so that researchers around the world can access them without barriers, thereby accelerating the pace of research.

Kenji Fujiwara: Open access journals, in particular, support surgeons who may not have institutional access to subscription-based journals. In the middle of the night at a hospital, when facing a rare condition, access to open literature can directly influence patient care.

This absence of longitudinal data and validated biomarkers makes it difficult to measure the effectiveness of new drugs.
Claudia Brogna

What elements of equity and access do you consider when evaluating rare diseases research in your role as Academic Editor for PLOS One?

Miriam Hickey: For all of the articles that I edit, I pay particular attention to methodology — for example, transparency, and the use of reproducible methods — and also to whether the work contributes new, robust knowledge. Nowadays, there are many calls upon scientists’ time, and I am very grateful for my reviewers and the essential role that they play in ensuring high-quality publications. Their role is often under-appreciated!

One way to increase equity for rare diseases is to ensure that high-quality articles on rare diseases are published in open-access platforms such as PLOS. This is vital to increase visibility to both the scientific community and to patients, their families, patient groups, and funding bodies.

Recent publications in PLOS investigating related topics, including the diagnostic journey for women living with Ehlers-Danlos Syndrome, innovations in clinical trial design for Wolfram syndrome, novel animal model development for the rare disorder Factor V deficiency, identification of neurological pathophysiology unique to Fabry disease, development of novel AI-based diagnostic tools for rare diseases, and investigation of the barriers to translating basic research into clinical care. See also our rare cancers collection.

References and resources

Rare Genomics Institute (https://www.raregenomics.org/)

National Organization for Rare Disorders (https://rarediseases.org/)

Global Genes – Allies in Rare Disease (https://globalgenes.org/)