The Nencki Institute of the Polish Academy of Sciences has established a research collaboration with the PACS2 Research Foundation, which unites patients affected by ultra-rare genetic disease caused by autosomal dominant mutation in PACS2 gene that leads to developmental and epileptic encephalopathy (DEEs).

The research in collaboration with PACS2 Research Foundation will be conducted in the Laboratory of Mitochondrial Biology and Metabolism headed by Prof. Mariusz Wieckowski and in the Laboratory of Cell Signalling and Metabolic Disorders headed by Prof. Agnieszka Dobrzyn.

The research conducted at the Nencki Institute will be coordinated by Prof. Mariusz Wieckowski and will contribute to a better understanding of the pathomechanism of this disease by filling the knowledge gaps regarding the impact of mutation in PACS2 gene on cellular metabolism.

Foundation website:  https://www.pacs2research.org/