Million Dollar Bike Ride 2020 funds BPAN research project

Once again this year, the Million Dollar Bike Ride charity bike race organised by the University of Pennsylvania (USA) raised funds for BPAN research. The NBIA Disorders Association grant of $71,471 will go to Prof Fulvio Reggiori, Dr Mario Mauthe, Prof Muriel Mari and Dr Lara Barazzuol from the University Medical Center Groningen in the Netherlands. The study will start in February 2021 and has the working title “Deciphering the causes of mitochrondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology“.

The team’s preliminary data show that cells with WDR45 deficiency have a disorganised mitochondrial network. This suggests that WDR45 is involved in other cellular processes besides autophagy. The main goal of the research is to characterise how WDR45 deficiency leads to disorganisation of the mitochondrial network and to decipher the consequences of this for the cell.