Anne holds a master's degree in molecular Cellular Biology and Physiology from University of Copenhagen (2018). This is also where her passion for cell biology originates. During her master thesis project at the Neuroscience lab at Bispebjerg Hospital, Anne's interest for translational research was sparked. Here Anne saw how new discoveries impacts and gives knowledge to help resolve complex problems in the field of pathology. For these reasons, Anne decided to leave her job in R&D and take on a new position in the SCiLS program at San Raffaele University Hospital.

Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) pathology is a renal ciliopathy with implications on the metabolism. In fact, a prominent feature of the disease is the rewiring of metabolic pathways. The genetic disease, most frequently caused by mutation in the PKD1 gene, leads to disruption of the Polycystin 1 (PC1) and Polycystin 2 (PC2) complex located on primary cilia in kidney cells. The exact mechanism of a defective PC1-PC2 complex downstream of the primary cilia has yet to be elucidated. However, several signalling pathways have been reported to be affected in the disease. A key player in cilia formation and intracellular signaling is the Intra flagellar Transport (IFT) complex. Deletion of various IFT proteins leads to renal ciliopathies and deletion of the IFT-B complex protein Ift88 results in a polycystic kidney disease phenotype in mice. Interestingly, preliminary results from the group of Dr. Boletta has shown that Ift88 knockout cells presents a drastic rewiring in the metabolism. The aim of this study will be to investigate the role of cilia in regulating the ADPKD metabolic alterations. 

The CRISPR/Cas9 genetic editing tool will be used to generate Ift88 (IFT-B protein) and Ift140 (IFT-A protein) KO mouse IMCD cells to test the role of IFT-A and IFT-B in regulation of the metabolic changes associated with ADPKD pathology. Differences in the metabolic and transcriptomic response to metabolic stress will be measured and analyzed by using Mass Spectrometry, metabolic tracing, SeaHorse and q-PCR..