Phosphoglucomutase 1 deficiency: from clinical presentation to sugar metabolism in cell models

Friday 3 February 2023, 10:30 am
F. Conte MSc.
prof. dr. D.J. Lefeber, prof. dr. B.G.M. van Engelen
dr. N.C. Voermans, dr. M. van Scherpenzeel (GlycoMScan)

The scope of this thesis is to investigate the clinical presentation, progression, and metabolic management of phosphoglucomutase 1 (PGM1) deficiency, while establishing new analytical methods to enable the investigation of its tissue-specific pathogenesis. The central aim of this project is divided in three key objectives. A disease-driven objective focused on raising awareness about the clinical presentation of PGM1 deficiency, evaluating galactose-based metabolic management, and testing a new screening method to enable neonatal diagnosis (Chapters 1-3). A methodological objective focused on developing novel analytical methods for tissue-specific investigations of the sugar metabolism in cell and tissue models (Chapters 4-5). An applicational objective focused on the application of such methods on in vitro models to dissect the metabolic mechanisms underlying PGM1 deficiency (Chapters 5-6). Lastly, we discussed and contextualized our key findings with the most recent developments of our project and the current clinical and preclinical knowledge on PGM1 deficiency (Chapter 7).

Federica Conte (1989) obtained her Master's degree in Molecular Biology, cum laude, at Ferrara University in 2014. She then worked as guest-researcher at RIMLS until November 2015, when she started her PhD project on phosphoglucomutase-1 deficiency in Prof. Lefeber’s group (Radboudumc). Currently she works as researcher with Prof. Lefeber and Prof. Passier (Twente University) to bridge -OMICS and 3D heart-on-chip.