Diagnosis, effective therapy and personalized care to provide optimal treatment for rare genetic disorders
Rare genetic disorders individually affect only a relatively small number of people. Collectively, however, they are a major public health burden. They affect 8% of the EU population.
The Emma Center for Personalized Medicine is divided into four sections: Diagnostics, Therapy, Care and Education. The patient is welcome in each section and can move through the entire knowledge chain, up to and including clinical trials and therapy approval.
To accelerate and innovate translational research and care, we use the Emma CPM therapy-accelerating wheel. The patient and the family are at the center and can go through the entire knowledge chain from diagnostics to clinical trials and approval of therapy.
Emma CPM focuses on four groups of genetic disorders: eye, metabolic, immune and neurodevelopmental disorders.
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.