Research theme Metabolic disorders

Metabolic disorders About theme

Mission

The mission of our Theme is to deliver P4 (Personalized, Predictive, Preventive, Participatory) medicine to our metabolic patients, i.e. to achieve precise and timely diagnoses, provide personalized treatment, take preventive health care measures for metabolic disease patients by an orchestrated multidisciplinary approach. Our unique center synergizes expertise (clinical, diagnostics & therapeutics, fundamental research) and technologies for patient-centred care at the Radboudumc. Patients are at the core and participate in the process.

 We promote further implementation and development of innovative technologies (multi-omics profiling & bio-informatics, functional analysis/ modelling, quantitative microscopy).  

Within the group of inherited metabolic diseases -genetic defects affecting biochemical processes which result in deficit of energy and building blocks, and often accumulation of toxins - the theme focuses on our centers of expertise conditions: mitochondrial diseases, congenital disorders of glycosylation and metabolic epilepsies.

Furthermore, Diabetes Mellitus which is a more common metabolic conditions with complex and multifactorial aetiology, is an important focus of our Theme.

Research field

To realize this mission, our research is organized along the main fields of the translational research cycle in seven main pilars:

1. Phenomics, Registries & Outcomes
2. Precision Diagnostics & Biomarkers
3. Pathophysiology, Models & Mechanisms
4. Pre-clinical therapy developments
5. Clinical trials & treatment access
6. Prevention
7. Education & awareness

Our theme is focused on providing personalized health care to our metabolic patients and families via integration and acceleration of this translational research cycle. Our multidisciplinary team of PIs with jPIs, post-docs and trainees have specific expertise in the various fields, and collaborate with colleagues in other themes and faculties, making optimal use of the Radboudumc Technology Centers. Important to our Theme is the Dutch Consortium ‘United for Metabolic Diseases’ that unites the six Dutch metabolic centers and patient organisations to perform translational research and innovate care. Our Theme plays a critical role in multiple UMD projects as outlined below.