Model systems are an essential research tool to study disease mechanisms and to test novel therapeutics. Traditional models to study diseases include animal models (such as transgenic mice) and cell lines. At Emma CPM, we have a focus on stem cell models offering an animal-free alternative that allows us to study patient-derived cells.
Model systems allow us to study early disease stages and assess the effect of specific gene defects or environmental influences. This is essential for a better understanding which cell types or cellular processes are affected in a specific disorder. Additionally, model systems can be used to identify therapeutic targets and study candidate treatments. They also enable performing drug screening to discover novel therapies or identify the most promising therapy for a specific patient, contributing to personalized medicine.
While many studies have traditionally used animal models or (primary or immortalized) cell lines, there has been a growing interest in stem cell models or computer (in silico) modelling in recent years. Induced pluripotent stem cells (or iPSCs) are stem cells that can be generated from a blood sample, which can consequently be developed into any tissue of interest. IPSCs allow us to study patient-specific disease processes and study hard-to-obtain tissue, such as the brain. Researchers at Emma CPM have expertise in stem cell models to study disorders affecting the kidney, eye, gut, heart, brain, immune system, and in virology.
The Emma CPM is a center of expertise at the Amsterdam UMC focusing on patients and families with a rare genetic disorder.
A collaboration between the Emma Children's Hospital, the Department of Human Genetics, the Laboratory of Genetic Metabolic Diseases, and various departments and laboratories.