Combining expertise to improve neuropsychiatric care for patients with rare genetic syndromes

Disruptions in individual genes may lead to serious developmental and behavioural problems in people with rare genetic syndromes or 'Mendelian' syndromes that occur frequently (1 in 250). Radboud researchers suspect that an abnormal development of the frontal cerebral cortex lies at the basis of this. With the multidisciplinary ProMiSe project, hand in hand with several public private parties, the researchers intend to make a blueprint for how the integration of neurobiological and clinical knowledge can lead to improvement of care for such patients.

Intervention strategies

The aim of this project is to improve our understanding of biological mechanisms underpinning psychiatric and cognitive aspects of rare genetic syndromes and based on this, develop tailored intervention strategies. These strategies are mainly targeted at the severe behavior and psychiatric problems of these patients. In order to do so, the researchers will uncover how gene mutations can lead to disturbances in the development of the frontal part of the brain.

Knowledge platform

Another important aspect of the project is mapping all existing knowledge about rare genetic syndromes and possible interventions. Expertise from multiple universities will be combined and made directly available for patients and their families in a Knowledge Platform. Patients are also able to supplement this information independently.


Contact information

Want to know more about the NWA-ORC project ProMiSe? Contact one of the researchers involved!