5 December 2019

Paola de Haas (PhD candidate) and Alessandra Cambi, Department of Cell Biology, theme Nanomedicine, have recently been awarded a grant from ‘Stichting Stofwisselkracht’ for their project entitled “Identification of immune-related symptoms in Congenital Disorders of Glycosylation” in collaboration with Dirk Lefeber and clinicians of the Department of Internal Medicine.
Sugars are necessary for our energy, but also for the proper functioning of proteins and cells in our body. The addition of sugars to proteins by enzymes in the cell is called glycosylation. In patients with a congenital defect in glycosylation (CDG) there is a defect in the addition of specific sugars to proteins in all cells of the body. Therefore CDG patients have systemic and very diverse symptoms. To date, we do not fully understand the underlying mechanisms, which means that for most patients no treatment is available. While problems in the brain or in the muscles are being extensively investigated, so far limited attention has been paid to the immune system of CDG patients. Although many patients have problems in resolving infections, wound healing or with the effectiveness of their vaccinations, these immunological symptoms have not yet been properly identified and the molecular causes not yet understood. Therefore, little advice can be given to patients and their caregivers.

Thanks to the support of Stofwisselkracht and in very close collaboration with the clinicians and researchers of the Department of Internal Medicine, Translational Metabolic Laboratory and Laboratory for Medical Immunology, we have set three goals: 1) we will work on setting up a questionnaire to properly map the immunological data of CDG patients now and in the past; 2) we will study the presence of different populations of immune cells in blood of CDG patients and 3) investigate important cellular functions such as pathogen uptake and cell migration. Ultimately we hope that our research can contribute to better and more personalized medical advice in the field of vaccination and treatment of infections in CDG patients.

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