On the last day of February, we celebrate Rare Disease Day – a special time to show solidarity with people living with these conditions and their families. It is also an important opportunity to raise public awareness and to emphasize the importance of education, early diagnosis, and the development of modern therapies.

Rare diseases constitute a highly diverse group of chronic disorders, often with a genetic origin and severe progression. A disease is considered rare if it affects no more than 1 in 2,000 people, while ultra-rare diseases occur in 1 in 50,000 individuals or less. Despite their name, these diseases are not as uncommon as one might think – they affect about 6–8% of the population. In Poland, this translates to 2–3 million people, and globally, around 300 million patients.

For many patients, the greatest challenge is the long and difficult path to diagnosis. Ambiguous symptoms, consultations with numerous specialists, and the lack of a quick answer can make the diagnostic process last months or even years. Collaboration among doctors from different specialties and the advancement of scientific research in this field are crucial. Since over 80% of rare diseases have a genetic basis, genetic testing is becoming increasingly important in shortening the diagnostic pathway, enabling faster and more precise confirmation of the condition.

At the Institute of Bioorganic Chemistry PAS, research is conducted on various rare diseases, including neurodegenerative disorders such as Huntington’s disease (HD), spinocerebellar ataxias (e.g., SCA3, SCA7, SCA27B), myotonic dystrophy types 1 and 2 (DM1, DM2), mitochondrial diseases (LHON, Leigh syndrome), as well as certain cancers, such as gliomas, and rare syndromes associated with tumor suppressor gene inactivation, including tuberous sclerosis complex (TSC) and Birt-Hogg-Dubé syndrome (BHD). Preliminary work is underway to investigate the molecular foundations and pathogenic mechanisms of neuronal dysfunction in AGO syndrome, an ultra-rare neurodevelopmental disorder caused by mutations in the AGO1 and AGO2 genes.

Researchers at IBCH PAS actively participate in extensive studies on the etiopathogenesis of rare diseases. They carry out molecular and cellular biology research aimed at understanding disrupted molecular pathways and identifying potential therapeutic targets. They also collaborate with medical institutions and pharmaceutical companies to better understand disease mechanisms and conduct preclinical studies on innovative treatment methods. These efforts involve searching for new diagnostic markers, developing drug delivery systems, and exploring novel therapeutic approaches. Advanced cellular models are also being developed, enabling the study of disease mechanisms and testing of new drugs within the framework of precision medicine.

Discovering a genetic mutation is often only the beginning of the journey. Understanding how it leads to the manifestation of symptoms and then developing an effective therapy is a process that can take years of research and collaboration among multiple specialists. This underscores the importance of basic research and the need for its continued development.

Rare Disease Day is not just a date on the calendar – it is a call for greater empathy, knowledge, and engagement. Every step toward better understanding these diseases is a chance to improve the quality of life for millions of patients and their loved ones.

We encourage you to explore selected recent publications presenting research findings in the field of rare diseases:

Klonowska, K., Lee, J., Drzewiecki, M., Grevelink, J. M., Boeszoermenyi, B., Kozłowski, P., Hanna, J., Laga, A. C., & Kwiatkowski, D. J. TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C. Genetics in Medicine, 2025.
https://pubmed.ncbi.nlm.nih.gov/40714908

Hirschfeld, A. S., Misiorek, J. O., Dąbrowska, M., Muszyński, J., Gerhart, B. J., Zenczak, M., Rakoczy, M., Rolle, K., Świtoński, P. M., Napierała, J. S., Handschuh, L., Napierała, M., & Badura-Stronka, M. Spinocerebellar ataxia 27B (SCA27B): A systematic review and a case report of a Polish family. Journal of Applied Genetics, 2025.
https://pubmed.ncbi.nlm.nih.gov/40299270

Śledziński, P., Nowaczyk, M., Śmielowska, M. I., & Olejniczak, M. CRISPR/Cas9-induced double-strand breaks in the huntingtin locus lead to CAG repeat contraction through DNA end resection and homology-mediated repair. BMC Biology, 2024.
https://pubmed.ncbi.nlm.nih.gov/39627841

Wozna-Wysocka, M., Jazurek-Ciesiolka, M., Przybyl, L., Wronka, D., Misiorek, J. O., Suszynska-Zajczyk, J., Figura, G., Ciesiolka, A., Sobieszczanska, P., Zeller, A., Niemira, M., Switonski, P. M., & Fiszer, A. Insights into RNA-mediated pathology in new mouse models of Huntington’s disease. FASEB Journal, 2024.
https://pubmed.ncbi.nlm.nih.gov/39604147

Latowska-Łysiak, J., Zarębska, Ż.,   Sajek, MP., Grabowska, A., Buratin, A., Głodowicz, P., Misiorek, JO, Kuczyński, K., Bortoluzzi, S., Żywicki, M.,  Kosiński, JG.,  Rybak-Wolf, A., Piestrzeniewicz, R.,  Barciszewska, AM.,  & Rolle, K. Transcriptome-wide analysis of circRNA and RBP profiles and their molecular relevance for GBM. Molecular Oncology, 2025.
https://pubmed.ncbi.nlm.nih.gov/40008750

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