Dario Finazzi and his team at the University of Brescia are being awarded for their research on PKAN zebrafish by AISNAF, Hoffnungsbaum e.V. and NBIA Disorders Association. As part of the joint international funding initiative in 2018, the PKAN gene therapy project presented by Lauriel Earley was classified as worthy of funding by the Scientific Advisory Board and the Advisory Board of Lay Experts and received full funding of 40,000 euros.
But of the eight projects submitted in the same category, another project had also made a positive impression on the reviewers. AISNAF, Hoffnungsbaum e.V. and the NBIA Disorders Association has managed to provide additional funding of €22,000 for Professor Dario Finazzi's project.
The topic is "Understanding and Healing PKAN: Further Developments for the Phenotypic Rescue of a Zebrafish Model".
The project was able to start in May 2019. Its originality lies in the use of a small but particularly advantageous animal model, the so-called zebrafish. It is a freshwater fish whose embryos develop outside the mother and are transparent, which makes it easier to observe and handle. Finazzi and his collaborators had previously produced zebrafish with PANK2 mutations and described clear changes in the nervous and vascular systems, including edema and bleeding. Now, the researchers propose to complete the analysis and focus on assessing coenzyme A (CoA), mitochondria, and motor activity, all altered elements in PKAN.
Another important point of the project is the study of the molecular basis of defects of the circulatory system, the development of blood vessels and the cells that form them. The data obtained are of great importance for the determination of new molecular targets to counteract the emergence and progression of PKAN. Another important aspect will be the development of a fast and reliable system for the systematic testing of molecules with therapeutic potential. "These preliminary data are essential to secure further funding for large-scale screening of potential therapeutic agents," Finazzi says, adding, "I think this is an exciting time for PKAN researchers, for patients and their families, because we have built a solid foundation for potential care and the goals are closer than ever."