Why is it important to study Epidemiology of 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:
What challenges are faced when studying Epidemiology of Rare Diseases?
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:
Challenges when Studying Epidemiology of 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:
If you wish to know more about the epidemiology of CDG, the CDG&Allies-PPAIN team made a toolkit available for the community, consisting of a literature review regarding the published epidemiological data on CDG (which is expected to be published in 2022); an infographic, a powerpoint presentation and the recording of the session about epidemiology during the 5th World CDG Conference! If you wish to access the later three, you need to be registered in our platform (log in /create new account HERE). For further information, don’t hesitate to contact us! You just have to fill the contact form and explain how we can help you!
Ana Piedade, Sci and Volunteer Program 2021, NOVA School of Science and Technology, Portugal.
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