Erasmus MC
A healthy population and excellence in healthcare through research and education. This is what Erasmus MC stands for. Conducting groundbreaking work, pushing boundaries and leading the way. In research, education, and healthcare. We are practical people with a high level of expertise, working hard to improve and renew the healthcare of today and the public health of tomorrow.
You will be supervised by professor Ans van der Ploeg and Michelle Kruijshaar from the
CLMD and Dimitris Rizopoulos from the
Biostatistics unit.The Center for Lysosomal and Metabolic Diseases is a joint initiative of the Departments of Pediatrics, (Child)Neurology, Internal Medicine, Clinical Genetics and Hospital Pharmacy. Research at the center focusses on improving the treatment, care and diagnosis of children and adults with lysosomal storage disorders, and in particular Pompe disease. It includes clinical research as well as the development of innovative therapies (Gene and cell based therapies). The center for Lysosomal and Metabolic Diseases is the national center of expertise for treatment with enzyme replacement therapy of patients with MPS I, MPS II, MPS VI and Pompe disease.
The Department of Biostatistics of Erasmus MC is well known for its innovative statistical research in analyzing complex data structures (longitudinal and survival data, correlated data, missing data, censored data, Bayesian techniques, smoothing techniques, etc.).
Pompe disease is a rare inheritable disorder, caused by a deficiency of the lysosomal enzyme acid α-glucosidase which is needed to breakdown glycogen in the lysosomes. As a result, glycogen accumulates in the lysosomes, especially in muscle cells. This leads to limb-girdle and respiratory muscle weakness. Ultimately, many patients become wheelchair and/or ventilator dependent. Since 2006, treatment with enzyme replacement therapy is available.