Epidemiology in rare diseases

1. Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors. Rare Diseases and Orphan Products: Accelerating Research and Development. Washington (DC): National Academies Press (US); 2010. 2, Profile of Rare Diseases. Available from:

https://www.ncbi.nlm.nih.gov/books/NBK56184/&sa=D&source=editors&ust=1618324556824000&usg=AOvVaw0Pew9UjfarRjSzG7438Ex5/

Counting rare diseases is a special challenge for epidemiologic research. The challenges arise from rare diseases' low prevalence; countries adopting different definitions of rare disease; and researchers are continuously identifying new diseases or disease variants. Many other factors contribute to the challenge of epidemiological studies on rare diseases:

 On that account, epidemiological data of rare diseases is inexact.

 Both lack of knowledge and scarcity of expertise, and rare diseases’ chronic, degenerative, and life-threatening nature as well, led to rare diseases emerging as a public health priority in Europe. Read more here.

• EUCERD (replaced by the Commission Expert Group on Rare Diseases) elaborated a report ON THE STATE OF THE ART OF RARE DISEASE ACTIVITIES IN EUROPE. You can access it in the following link: https://ec.europa.eu/health/sites/health/files/rare_diseases/docs/2014report_rare_disease_activitieseu_1_en.pdf
• Racounter elaborated Infographics on the impact of epidemiology in the study of rare diseases and the prevalence rate of some rare diseases:
  • https://www.raconteur.net/infographics/the-diagnostic-odyssey/
  • https://www.visualcapitalist.com/which-rare-diseases-are-the-most-common/