Improving the diagnosis of under-recognized, rare diseases in Asian populations: Systematic analysis of rare disease databases


  • Daphne Ih Emory University
  • Kiana Amaral
  • Haoming Shi
  • Armaan Jamal
  • Nicholas Kikuta
  • Gavin Martin
  • Lily Ren
  • Malathi Srinivasan
  • Latha Palaniappan
  • Linda Geng Stanford University



rare diseases, diagnosis, asians, Asian health, misdiagnosed conditions, Health disparities, equity, health equity


Rare diseases affect approximately 30 million Americans, but fewer than one in 10 of these patients receive an accurate diagnosis and timely, appropriate treatment. Many of these medical conditions disproportionately impact patients of Asian descent as well as other racial and ethnic minorities; however, at the time of this writing, they are not well recognized or sufficiently represented in current medical training curricula or existing scientific literature. To better assess these disparities, we conducted a systematic analysis of the National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases (GARD) Information Center databases to identify rare diseases that are often misdiagnosed in individuals of Asian descent, as well as scientific studies through the PubMed search engine that discuss racial and ethnic disparities in rare clinical diagnoses. Searches in the NORD and GARD databases yielded 52 medical conditions with reported disproportionate prevalence across Asian populations. A subsequent PubMed search regarding these 52 medical conditions identified 133 articles relevant to the potential misdiagnosis and under-recognition of these rare diseases. Overall, there is a paucity of literature on rare diseases and our findings highlight the need for more research on underrecognized rare diseases that disproportionately impact Asian populations. Future educational programs for medical trainees and practitioners should increase focus on rare diseases in racial and ethnic minority groups to improve diagnosis and minimize disparities in health outcomes.  



How to Cite

Ih, D., Amaral, K., Shi, H., Jamal, A., Kikuta, N., Martin, G., Ren, L., Srinivasan, M., Palaniappan, L., & Geng, L. (2024). Improving the diagnosis of under-recognized, rare diseases in Asian populations: Systematic analysis of rare disease databases. Journal of Asian Health, 4(1).



Original Research Articles