Rare diseases (RDs) pose unique challenges to global healthcare. The European Union has led numerous initiatives, including EURORDIS, European Reference Networks (ERNs), and recently, the European Rare Diseases Research Alliance (ERDERA), to advance research, diagnosis, and treatment in this field. A crucial aspect of ERDREA is the strategic involvement of underrepresented countries (UCs), acknowledging their unique contributions to RD research and capacity building.
This paper takes Morocco as a case study to explore the scientific and translational benefits that UCs bring to ERDREA. With high rates of consanguinity, large groups of untreated patients, and the emergence of specific or novel mutations, these countries are positioned as key allies in discovering pathogenic variants, creating therapeutic targets, and enhancing precision diagnostics. We argue that integrating UCs into RD research frameworks not only strengthens the scientific ecosystem but also promotes equity, capacity development, and mutual benefit across regions.
Our findings support a shift toward inclusive and internationally coordinated strategies, emphasizing that the success of RD initiatives such as ERDREA depends on leveraging global diversity and fostering North–South collaborations.