Collectively, rare genetic disorders are common, affecting 1 in 12 people in the population. Research and care are often fragmented. This is due to a lack of evidence, small patient numbers, a wide variety of disorders and differences between individuals with the same condition.

The mission of the Emma Center for Personalized Medicine (Emma CPM) is to create a focal point within Amsterdam UMC for rapid (genetic) diagnosis, effective therapy and personalized care to provide optimal treatment for rare genetic disorders.

We translate innovative research results to the patient through a specialized and multidisciplinary approach according to the P4 medicine model (participation, prevention, prediction, personal). Our multidisciplinary team works from the conviction that each patient is unique and based on individual (epi)genetic symptoms and disease course, preferences, and needs. The patient and family play a key role and are partners in the process, strengthening the transdisciplinary team.

The Emma CPM anchors the latest knowledge and technology in daily medical practice for the individual patient with a rare hereditary condition. We strive for efficient translation of research into personalized treatment and care.

The Emma CPM’s vision is for every person with a rare genetic disorder to receive high quality treatment and appropriate care as soon as possible. We believe that each patient is unique and should be treated based on their individual (epi)genetic characteristics, symptoms and disease course, preferences and needs.)

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. Due to the small numbers, new treatments often do not reach the patient and evidence-based care is lacking. Personalised care for these disorders is the way to provide optimal care. Innovative research results are often insufficiently translated into daily practice. Regular measurements at Emma Children's Hospital show that half of the admitted patients have a rare genetic disorder, often with complex symptomatology and severe course.

The Emma CPM rapidly translates basic research and technology development into the clinic by combining expertise in science, care and education, and multidisciplinary collaboration. We are working on an excellent model for transdisciplinary cooperation in order to provide the right care in the right place.