Our research will contribute to a better understanding of the pathomechanisms of NBIA disease most likely related to the alterations in lipid metabolism and mitochondrial dysfunction.
The project will be implemented in cooperation of two teams led by Prof. Mariusz Wieckowski and Prof. Agnieszka Dobrzyn from the Nencki Institute, and the team led by Prof. Iwona Kurkowska-Jastrzebska and dr hab. Marta Skowronska from the Institute of Psychiatry and Neurology in Warsaw. On the social side, the project is supported by the NBIA Poland Association, which unites NBIA patients and their families.
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare genetic diseases characterized by excessive iron accumulation in the brain. The disease is associated with a mutation in the gene encoding the C19orf12 protein, whose role is still unknown. However, it seems that this protein is involved in fatty acid metabolism and mitochondrial function. Understanding the function of the C19orf12 protein is crucial for understanding the pathomechanism of NBIA and may also contribute to the development of new therapies to alter the natural course of this disease. Basic research, conducted in parallel with clinical trials, are crucial for the development of targeted therapy in NBIA. They will allow to investigate the effectiveness of the used therapy as well as to implement new therapeutic solutions for NBIA patients.
Founded in 2018, the NBIA Poland Association is an organization of patients and their families with non-profit status, which in 2019, joined the international NBIA Alliance group as an NBIA patient organization from Poland. Being aware of the indispensable role of scientific research in understanding disease mechanisms for the introduction of new therapies, diagnostics, and personalized treatment methodologies the NBIA Poland Association specifically seeks for research and scientific programs for particularly rare NBIA diseases.
The tiger head present in the NBIA Poland Association's logo shows the characteristic - "Tiger's Eye" visible in the MRI image of children diagnosed with this disease (especially the NBIA-PKAN type).