Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network
Radboud University Medical Centre Nijmegen
Nijmegen, NETHERLANDS
The Radboud University Medical Centre (Radboudumc, RUMC) is a national, tertiary referral centre for patients with metabolic disorders, especially mitochondrial diseases, glycosylation disorders, cystinosis, and neurometabolic diseases. The mission of the center is to deliver predictive, preventive, personalized and participatory medicine to 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. The center synergizes expertise (clinical, diagnostics & therapeutics, fundamental research) and technologies for patient-centred care at the Radboudumc.
The RUMC has outpatient as well as inpatient day-care and pediatric facilities for a wide range of diseases. Due to the large number of patients that are seen, a great deal of knowlegde has been obtained with respect to epidemiology, clinical aspects and natural history of the disease, diagnostic workup, treatment and follow-up, which are used for the benefit of the patient.
The center actively pursues partnership with stakeholders, such as patient organisations, regulators and pharmaceutical companies. Specialists of the RUMC currently are participating in the development of national and international standards of care. They are medical advisors of the national patient organisation sections on mitochondrial diseases and glycosylation.
Within the formally recognized RUMC research theme on Metabolic disorders, clinicians, paramedics, laboratory experts from virtually all disciplines, and bio-informaticians in all stages of their careers, work closely together in agile project teams aiming at creating true impact on healthcare. Individual researchers are affiliated to the Research Institutes for Health Sciences, Molecular Life Sciences and to the Donders Institute for Medical Neuroscience. The research theme is naturally aligned with patient care via the Radboudumc centers of expertise for Mitochondrial Medicine (RCMM) and Congenital disorders of glycosylation (RCDG).
Within the Expertise Center for Metabolic Diseases, a huge variety of specialists from different clinical, scientific, paramedic, valorization disciplines all work together aiming to improve the quality of life of the patients they care for.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
The complete range of diagnostic tests is available, including serological, hematological, immunological, muscle, skin or nerve biopsies tests, and metabolic tests. Neurophysiological testing, including electromyography, single fiber electromyography, nerve and muscle echography. The Full range of genetic diagnostic testing is available, including whole exome sequencing.
The care of patients has been formalised in several multidisciplinary outpatient clinics for pediatric and adult patients, between neurologists, internist, rehabilitation physicians (physiotherapy, speech therapy, occupational therapy, social help), pulmonologists, cardiologists (both pediatric and adult), ENT specialists, orthopedic and thoracic surgeons, and neuropathologists.
A specialized multidisciplinary outpatient clinic facility is available for children with mitochondrial disease and glycosylation disorders. All tests and consultations with the team are organized in a one day visit to the RUMC and coordinated by a specialized nurse and secretary. Patients can opt to participate in research studies or clinical trials or several biobank initiatives.
Metabolic disease research and patient care requires an excellent laboratory infrastructure. State-of-the-art technology platforms are available via the research infrastructure of the Radboudumc Technology Centers (RTCs). Specific RTCs and other facilities in which the theme is leading, include:
- Clinical care (including RTC Clinical studies), world-class metabolic and genetic diagnostics
- RTC Mass spectrometry with methodology for metabolomics, proteomics, glycoproteomics and complexome profiling
- RTC Microscopic imaging center
- A large cohort of well-characterized patients and patient cell lines at Radboudumc thanks to a long-lasting and strong network of leading medical centers in the Netherlands, Europe, and beyond
- A well-established workflow for the diagnosis and clinical phenotyping of mitochondrial disorders leading to the discovery of new genetic defects by exome- and whole-genome sequencing and their functional characterization
- RTC Bioinformatics and systems biology groups offering powerful computational methods to obtain specific predictions about protein function and pathways, based on data from proteomics, transcriptomics, and metabolomics studies
- RTC Animal research facility to study animal (flies, zebrafish, mice) model systems for disease
- RTC Genomics
- RTC Human performance
- RTC stem cell technology.
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