DocTIS supports Rare Disease Day 2026
On 28 February, the global community marks Rare Disease Day, a worldwide movement dedicated to achieving equity in social opportunities, healthcare, diagnosis and access to therapies for people living with a rare disease. On this occasion, DocTIS expresses its support for the more than 300 million people affected worldwide, as well as their families and caregivers.
Rare Disease Day was established in 2008 and is coordinated by EURORDIS – Rare Diseases Europe, in partnership with over 70 national alliance patient organisations. It has become a powerful focal point for advocacy at local, national and international levels.
Rare Disease Day is observed every year on 28 February, or on 29 February in leap years, the rarest day of the year. The initiative continues to strengthen a global, diverse and united community committed to improving the lives of people living with rare conditions.
More than 7,000 rare diseases, over 300 million people
In the European Union, a disease is considered rare when it affects fewer than 5 in 10,000 people. Although each condition individually has a low prevalence, collectively rare diseases affect more than 300 million people worldwide. In the European Union alone, it is estimated that between 27 million and 36 million people live with a rare disease.
According to Orphanet, a comprehensive European reference portal dedicated to information on rare diseases and orphan drugs, more than 7,000 rare diseases have been described, of which 6,417 have been identified to date.
People living with rare diseases often face delayed diagnosis, limited treatment options and significant social and economic challenges. Continued investment in research is essential to accelerate diagnosis, develop new therapies and ensure equitable access to care.
Research for complex and heterogeneous diseases
DocTIS focuses on six immune-mediated inflammatory diseases: rheumatoid arthritis, psoriasis, psoriatic arthritis, Crohn’s disease, ulcerative colitis and systemic lupus erythematosus.
Unlike rare diseases, these conditions are relatively common. Taken together, these six diseases affect an estimated 500–700 people per 10,000 inhabitants in Europe. This contrasts with the European definition of a rare disease, which affects fewer than 5 in 10,000 people.
However, common does not mean simple. These diseases are chronic, heterogeneous and often unpredictable. Many patients experience severe forms, refractory disease or atypical clinical presentations. Treatment response varies widely, and there remains a pressing need for more precise and personalised therapeutic strategies.
By integrating systems biology, advanced genomics and innovative clinical research methodologies, DocTIS aims to identify optimal combinatorial therapies and improve therapeutic decision-making. In doing so, the project contributes to a broader scientific effort that strengthens knowledge on complex immune mechanisms, with potential relevance across disease areas, including rare conditions.
On Rare Disease Day, DocTIS reaffirms a clear principle: sustained, high-quality research is essential for all diseases. Whether a condition affects 5 in 10,000 people or 500, progress depends on scientific excellence, cross-border collaboration and long-term commitment. Supporting research today is the foundation for more equitable healthcare tomorrow.
A collaborative European effort
Coordinated by the Vall d’Hebron Research Institute, VHIR (Sara Marsal), the DocTIS consortium brings together Cardiff University (Ernest Choy), the University of Verona (Giampiero Girolomoni), Charité – Universitätsmedizin Berlin (Britta Siegmund), the Institut d’Investigacions Biomèdiques August Pi i Sunyer, IDIBAPS (Pere Santamaria), the National Center for Genomic Analysis, CNAG (Holger Heyn), IMIDomics Inc. (Manuel Lopez-Figueroa), HudsonAlpha Institute for Biotechnology (Richard M. Myers) and Zabala Innovation.
Together, the partners work to translate advanced molecular insights into tangible clinical benefit, reinforcing a shared commitment to improving the lives of patients across Europe and beyond.
