World Rare Disease Day: IIMCB Research Serves Patients and Their Families

The last day of February marks World Rare Disease Day. This international initiative aims to raise awareness about rare diseases and their impact on patients' lives. It is also an opportunity to highlight the crucial role of biomedical research in the fight against these conditions.

Rare diseases represent a broad spectrum of chronic, often genetic, and severe conditions characterized by low prevalence. According to the European Union's definition, a disease is considered rare if it affects no more than 5 in 10,000 people. Some are classified as ultra-rare, affecting only 1 in 50,000 people.

Background visual: EURORDIS Rare Disease Day 2026 www.rarediseaseday.org

A defining feature of these conditions is their immense diversity, which paradoxically results in a high total number of patients. It is estimated that 6% to 8% of the population suffers from more than 8,000 different conditions. This affects approximately 2.5 million people in Poland, 30 million in Europe, and 300–400 million worldwide. About 80% of rare diseases have a genetic basis. For most, effective diagnostics and therapies are still lacking. Neurodevelopmental and metabolic diseases in children are particularly devastating, as a lack of early intervention leads to irreversible health and social consequences. 

Research That Brings Help

International Institute of Molecular and Cell Biology has been conducting research in the field of rare diseases for years, contributing to a better understanding of their molecular mechanisms and the development of new therapeutic strategies. At IIMCB, we study rare diseases “from gene to patient,” combining molecular methods, multi-omics analyses, and cell and animal models in collaboration with clinicians, patient organizations, and technology partners.

Between 2022 and 2025, our research resulted in the introduction of new knowledge into diagnostic and clinical practice. This led to, among others:

• the implementation and dissemination of preventive management for infants with tuberous sclerosis complex (TSC);
• a shorter diagnostic pathway in ultra-rare diseases through elucidation of their molecular mechanisms (FEM1C, TENT5A);
• support for IT solutions in diagnostics, treatment, and medical data analysis;
• strengthened knowledge transfer to patients’ families.

This impact has had significant social importance: it provided access to adequate diagnosis, enabled psychosocial support, and facilitated connections between families affected by the same disease. IIMCB's research has also become the foundation for international clinical cooperation and the further development of functional diagnostics for ultra-rare diseases.

Below are examples of rare disease research conducted at IIMCB:

Laboratory of Molecular and Cell Neurobiology
Research by Prof. Jacek Jaworski’s team combined mechanistic insight into epileptogenesis in tuberous sclerosis complex (TSC) with a shift in approach to preventive treatment and with biomarker validation. Studies in a zebrafish model showed that hyperactivity of the TrkB protein contributes to epileptogenesis and brain dysconnectivity, supporting the search for early therapeutic windows. The international EPISTOP clinical study, with IIMCB participation, demonstrated that initiating vigabatrin treatment in children with TSC after EEG abnormalities appear, before the first seizure, delays epilepsy onset, reduces the rate of drug-resistant epilepsy, and eliminates infantile spasms. Additional molecular studies led to the identification of biomarker panels and helped define features distinguishing phenotypes and predictors of epilepsy risk, supporting the personalization of disease monitoring and antiepileptic therapy.

Laboratory of Protein Metabolism
Dr. hab. Wojciech Pokrzywa’s team carried out the first comprehensive functional analysis of the FEM1C protein, identifying it as a key regulator of ubiquitin-dependent processes in neuronal cells. In the nematode model C. elegans, by recreating a mutation detected in a patient, the team showed that loss of FEM1C function disrupts protein stability and neuronal development, leading to an ultrarare neurodevelopmental disorder.

Laboratory of RNA Biology - ERA Chairs Group
Prof. Andrzej Dziembowski’s team generated Tent5a knockout mice to describe a new molecular mechanism underlying congenital bone fragility (osteogenesis imperfecta type XVIII). They showed that TENT5A is an active cytoplasmic poly(A) polymerase induced during osteoblast differentiation, which polyadenylates mRNAs encoding collagen and other secreted proteins, stabilizing them and increasing their expression. These results clarified the pathomechanism of the bone disease and accompanying metabolic disturbances, and have been applied in diagnostics.

Genome Engineering Facility
The Facility, headed by Dr. Michał Brouze, developed a mouse model recreating a mutation in the TRAP1 gene identified in some patients on the autism spectrum. This achievement allowed for proving the causal link between the function of this gene and the occurrence of autism symptoms. Currently, the Facility is also involved in creating a mouse model for a rare myopathy, MFM13, which leads to muscle weakness and atrophy in humans. This model, which reproduces a mutation in the HSPB8 gene identified in MFM13 patients, will serve as a foundation for seeking RNA-based therapies.

more about World Rare Diseases Day: https://www.rarediseaseday.org/