Anke Willems Genetic disorders in sialic acid metabolism: a biochemical perspective
Sialic acid is an important sugar for the proper functioning of our brain, muscles and kidneys, among others. Sialic acid is produced in a cellular process that we do not fully understand yet.read more
Anke Willems Genetic disorders in sialic acid metabolism: a biochemical perspectiveSialic acid is an important sugar for the proper functioning of our brain, muscles and kidneys, among others. Sialic acid is produced in a cellular process that we do not fully understand yet. If one of the enzymes involved in sialic acid production is compromised due to a genetic defect, this could lead to various problems in patients, for example muscle disease or intellectual disability. Using cell models in which we simulated these genetic defects we are able to understand these differences better. In this project, the researchers discovered two novel genetic diseases and we gained new insights in mechanisms of sialic acid metabolism. These can eventually contribute to the development of new therapies for genetic and non-genetic disorders.
Date, time and location PhD defense
- Date: 22 November 2019
- Time: 12.30 hrs
- Location: Radboud Universiteit, Academiezaal Aula, Comeniuslaan 2
Anke Willems (1990) received her master’s degree in Nutrition and Health in 2013 from Wageningen University. The research in the described thesis was performed in the Translational Metabolic Laboratory and the department of Neurology at the Radboudumc, within the Radboud Institute for Molecular Life Sciences (RIMLS). Currently, Anke is in training to be a laboratory specialist clinical genetics at the section of metabolic diagnostics in the university medical centre in Utrecht.
- Promotor: Prof. dr. D.J. Lefeber
- Co-promotors: Dr. A. Ashikov