By definition, rare diseases affect a small percentage of the population. In the UK, it’s estimated that fewer than 1 in 2,000 people have one. That may not sound like much, but to put it another way, it’s estimated that approximately 3.5%-5.9% of the world’s population today has one. These can include a wide range of disorders, many of which are genetic and present from birth, though they can also appear later in life. Due to their rarity, there is often a lack of scientific knowledge surrounding them and misdiagnosis can often occur. The collective impact of these diseases is significant, as they often lead to chronic health issues and complex medical needs.

On the last day of February each year, the global community comes together to observe Rare Disease Day. By raising awareness and fostering a global community of support, Rare Disease Day aims to drive research, improve patient care, and advocate for the rights and needs of those affected by these unique conditions.

This selection of content is related to the SDG 3 goal: "Ensure healthy lives and promote well-being for all at all ages", and to the related key targets. 

Collections calling for submissions 

There are many collections across Springer Nature that aim to bolster research on rare disease , below is only a small sample of collections (some open for submissions, some past collections) on this topic. 

Scientific Reports is calling for papers on Rare Diseases in Children.

The Journal of Rare Diseases, the official publication of The Egyptian Medical Association (EMA), is inviting contributions on registries for rare diseases.

Human Genome Variation has a call for papers on Approaches for identifying pathogenic variants causing rare diseases.

You can see research published in Diagnostic Pathology about Rare Cancer Types.

Genomics & Informatics published an article collection on Frontiers in Rare Disease Genetics in 2024, and you can read the published papers here.

And Orphanet Journal of Rare Diseases is hosting two upcoming collections, entitled European Reference Networks: Advancing Collaboration and Care for Rare and Complex Diseases and The European Rare Disease Research Coordination and Support Action (ERICA) ERN Research Conference.

 Springer Nature Research Communities  

To find insightful blog posts related to Rare Disease Day, you can explore the Springer Nature Research Communities website. This platform hosts a variety of articles and discussions from experts in the field.

For example, in this blog, Nan Wu writes about how AI and genetic testing are impacting rare skeletal disorders, by leading to quicker diagnoses and enabling precise spinal care. In another blog, Zainab Alani writes about her experiences with generalised Myasthenia Gravis, a rare autoimmune disorder. Iman Muzafar reflects on the diagnostic uncertainty faced by people with cavernoma, and María Sánchez wrote a Behind the Paper blog on her paper Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions.

Other blog posts include The Present and Future of Rare Diseases: Towards a New Era of Diagnosis and Treatment by Jordi Pijuan, Strengthening ERN Research as We Mark Rare Disease Day 2026 by Mari Murel, Where are clinical trials for rare conditions headed next? about a recent webinar series organised by the RealiseD project, and blog on GRIN-related disorders.

Use the search function on the website to discover other relevant content and stay informed about the latest developments and initiatives. 

Highlights from Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases, is the official journal of Orphanet and publishes papers on all aspects of rare diseases and orphan drugs. Below we present selection of recent articles.

In this Letter to the Editor, McKay & Thompson reflect the tenth anniversary of The Student Voice Prize, an annual essay competition originally created to increase the engagement of medical students with rare diseases.

In this work, van Wegberg et al. explore how healthcare professionals’ subjective opinions can influence the development of clinical guidelines for phenylketonuria.

This position statement by Naima Fdil discusses the development of the European Rare Diseases Research Alliance (ERDREA) and its emphasis on involving underrepresented countries in its research efforts, using the example of Morocco to promote the initiative.

In this article, Douglas et al. explore how social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases.

A new paper by Glaubitz et al. investigates the cost of the diagnostic odyssey of patients with suspected rare diseases.

This article by Huynh et al. examines educational practices focused on how medical schools can improve training on rare diseases, emphasizes the need to include specific content to increase awareness and clinical competence, and presents examples of innovative, patient-centered instructional strategies.

Acosta et al. discuss the methodological challenges of outcomes research and clinical trials in pediatric rare diseases in Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases.

This study by Sendtner et al. compares the diagnostic performance of expert physicians with artificial intelligence tools in rare disease diagnosis. It highlights both the advantages and limitations of AI as a supplement in complex diagnostic processes and offers a critical perspective on integrating automated systems with human clinical expertise.

In a new study, Tejero et al. repurpose WES data to reclassify suspected Fanconi anemia cases toward alternative genetic diagnoses such as Diamond–Blackfan anemia. It demonstrates how new bioinformatic tools can resolve cases that were initially inconclusive with standard testing, with a direct positive impact on patient experience by reducing or ending the diagnostic odyssey.

Last fall, Yang et al. published the paper Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.

This expert position paper by Tosi et al. addresses gaps in the transition of pediatric patients with rare diseases to adult care. It identifies a lack of coordination, resources, and clear guidelines for effective transition, and proposes recommendations to help healthcare systems ensure continuous, needs-adapted care.

In this manuscript, Liu et al. demonstrate how a 5′ UTR variant is possible to cause a partial deletion in exon 2 of the NDP gene. A result that makes you considered this type of variants and “think out of the box” when analyzing and when interpreting genomic variants for gene-disease correlation 

And at the end of last year, Guan et al. published a new paper entitled Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.

ISRCTN Registered Clinical Studies

Two ISRCTN registered studies (you can view the first here and the second here) look at the impact two new investigational drugs have on individuals with Duchenne muscular dystrophy. Another looks at the effectiveness of Radiotherapy (miBG) in neuroblastoma combined with chemotherapy (talazoparib). Patients older than one year old are eligible to participate. 

 Conclusion 

If you want to get involved in Rare Disease Day this year, you can visit the official website, read the how-to guides on how to advocate, fundraise, organise an event, contact the media, and access social media resources.