Rare Genetic Disorders
Care Pathways & Health System Research
Research on rare genetic disorders within the Rare & Resistant Research Platform, with a focus on diagnostic delay, care pathways and structural barriers in health systems.
MCT8 Research Initiative
Research in rare genetic disorders within this platform builds on the work of MCT8 Forschung e.V., a patient-driven research initiative focused on Allan-Herndon-Dudley syndrome (MCT8 deficiency).
The initiative brings together clinicians, researchers and patient communities to improve diagnosis, care pathways and research collaboration in rare diseases. Its activities include international exchange with clinical experts, support of patient communities and the analysis of real-world care pathways.
Further information: www.mct8-research.com
Programme focus
Rare diseases frequently face substantial diagnostic delays and fragmented care pathways. This research area focuses on identifying structural barriers within health systems that affect diagnosis, access to care and long-term disease management.
Patient-centred approach
Research activities are informed by close exchange with patient communities and self-help organisations. Patient experience and real-world care pathways play a central role in identifying unmet medical needs and structural gaps within healthcare systems.
Research areas
Diagnostic delay
Analysis of diagnostic journeys in rare diseases and identification of barriers within clinical pathways.
Care coordination
Study of care structures across different sectors to identify fragmentation and gaps in long-term disease management.
Health system implementation
Research on guideline implementation, access to specialised care and structural challenges in rare disease management.