Metabolic disorders About themeThe mission of our Theme is to deliver personalized, predictive, preventive and Participatory (P4) 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. read more
Metabolic disorders About theme
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.
To realize this mission, our research is organized along the main fields of the translational research cycle in seven main pilars:
- Phenomics, Registries & Outcomes
- Precision Diagnostics & Biomarkers
- Pathophysiology, Models & Mechanisms
- Pre-clinical therapy developments
- Clinical trials & treatment access
- 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.
News, events, impact and organization
Hans Spelbrink is beneficiary of the MITGEST Doctoral Networkwhich receives 2.6 million euros funding (PhD positions available)27 September 2022
Towards a better understanding of Leigh Syndrome pathology and interventionpublished in Brain8 December 2021
New genetic defect links cell biology and protein glycosylation10 November 2021
Answers in Dutch
Information on our research can also be found in Dutch on the Nationale Wetenschapsagenda website. The information here answers questions asked by Dutch citizens.visit website
- Outreach activities for patients with mitochondrial diseases and other stakeholders
- The successful road to development of drug candidate KH176, and beyond
- Complex I assembly pathway elucidation
- Mitochondrial drug developed at Radboudumc is safe in healthy male volunteers
- Quantitative morphofunctional analysis of mitochondria
- Diabetes research at Radboudumc
- Psychological aspects of mitochondrial disorders
Center of clinical expertise Mitochondrial Medicine
The RCMM is an international expert center for clinical care, diagnostics and research for patients with or suspected of having a mitochondrial energy disorder.see page (Dutch)