Rare Disease Day 2026: Rare Close to Science

We would like to thank all participants from the scientific community, students, and representatives of patient organizations for Wednesday’s (February 25, 2026) active professional discussion on the future of diagnostics and research in rare diseases.

The event, titled “Rare Close to Science,” we organized in cooperation with the Rare Diseases Czech Republic (RDCR), the National Center for Medical Genomics, and other partners on the occasion of International Rare Disease Day.

RD-Factory introduction

The evening was moderated by Assoc. Prof. Radislav Sedláček (director of the Czech Centre for Phenogenomics). In his introduction, he briefly summarized the current status and goals of the RD-Factory (Rare-Disease Factory) program. The RD-Factory program aims to accelerate research and diagnostics in rare diseases, foster the development of new therapies, and deepen scientific understanding, not only through expert collaboration but also through active public engagement. RD-Factory is implemented in cooperation with the Institute of Molecular and Translational Medicine (IMTM) in Olomouc and other partners.

Dr. Jan Procházka (CCP) focused on the generation of mouse models of rare diseases (so-called “avatars”: mouse models with a specific pathogenic mutation). He described the selection process for nominated diseases and the technological, biological, and capacity constraints involved. He illustrated his talk with the example of Canavan disease, where a mouse model revealed an unexpected protective mechanism against a toxic metabolite. Research into rare diseases often resembles detective work, while pursuing one objective, unexpected discoveries may emerge. In this sense, RD-Factory program opens new systemic approaches to rare disease research.

History and Cooperation

Prof. Stanislav Kmoch (First Faculty of Medicine, Charles University) opened his lecture by recalling the long history of rare disease diagnostics in the Czech Republic, dating back to the 1960s, and paid tribute to its founder, Professor Josef Hyánek. In his presentation, he emphasized the importance of collaboration among patients, physicians, laboratories, and research centers. According to him, such collaboration should move toward a future in which the RD-Factory concept forms part of a broader ecosystem, one that begins with the patient and their family, continues through laboratory research, and ultimately leads to potential therapies that may become available over time.

Czech Multiome Project

Assoc. Prof. Marián Hajdúch (IMTM) introduced the “Czech Multiome Project – From Genes to Gene Functions,” which applies a multiomic (holistic) approach integrating data across multiple biological layers: genomics (DNA), epigenomics (DNA modifications), transcriptomics (mRNA), proteomics (proteins), metabolomics (small molecules), microbiomics, and phenomics. The project aims to define reference multiomic profiles of the healthy Czech population (including Slavic genomes) to enable more precise interpretation of genetic findings in patients.

To date, more than 1,200 samples have been collected from healthy donors. Analyses across various omics layers are ongoing, and some datasets, such as genomics and metabolomics, are already available in databases including ClinData and CzechGenome.cz. The CzechGenome database can support monitoring the prevalence of rare diseases in the population and identifying risks that warrant closer observation. The volume of such data is expected to continue growing, particularly in light of the rapidly decreasing cost of whole-genome sequencing.

 “Patient / Diagnostic Odyssey”

The final presentation was delivered by representatives of the Rare Diseases Czech Republic (RDCR). In her talk, Lenka Hajgajda, M.Sc. addressed the concept of the so-called “patient/diagnostic odyssey”, the arduous and complicated journey of a patient to obtain the accurate diagnosis and appropriate treatment. This frequently involves repeated visits to multiple physicians, misdiagnoses, unnecessary examinations, and significant loss of time. In rare diseases especially, reaching a diagnosis may take years. The impact on patients and their families is not only economic but also psychological. Patient organizations therefore aim to shorten the diagnostic journey by improving awareness, expanding access to genetic testing, and developing specialized centers. This includes shortening the path from laboratory research to patient care, while ensuring that research reflects the real needs of patients.

Anna Arellanesová, B.Sc. (RDCR) presented the draft “National Strategy for Rare Diseases”, which is currently undergoing internal review at the Ministry of Health and to which RDCR has submitted its comments.

Open House: Rare Diseases Up Close

Second part of our event held on the occasion of International Rare Disease Day is coming. More details you get here.

We look forward to meeting you in person and sharing hope between science and patients.