Pascale Dijkers and Ody Sibon received a seeding grant from NBIA disorders organisation

Pascale Dijkers and Ody Sibon received a seeding grant from the NBIA disorders organization  for the project entitled: Development and validation of a Drosophila model for FAHN.

Deficiencies in lipid metabolism form a significant part of Neurodegeneration with Brain Iron Accumulation (NBIA). Research suggests that a number of NBIA-associated genes functionally interact. Our earlier research focused on one NBIA gene involved in CoA metabolism, Pantothenate Kinase 2 PANK (PANK2), involved in PKAN, a subform of NBIA. A fruitfly model was established for PKAN, resulting in the identification of a potential drug which recently received the orphan drug status. Here, we propose to set up a similar model for the NBIA disorder FAHN (Fatty acid hydroxylase-associated neurodegeneration), to further analyze the FAHN-associated gene FA2H (Fatty Acid 2-Hydroxylase). We aim to identify FA2H-associated phenotypes and signaling in Drosophila and thus generate a novel bona fide FAHN model. A validated Drosophila model for FAHN can be used to screen for potential drugs in the future.