Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Sep;6(17):329.
doi: 10.21037/atm.2018.09.04.

Rare diseases: the paradox of an emerging challenge

Affiliations

Rare diseases: the paradox of an emerging challenge

Elisa Danese et al. Ann Transl Med. 2018 Sep.
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Cumulative prevalence of “rare diseases”.
Figure 2
Figure 2
Peak of popularity of Google searches for “orphan diseases”, “cancer” and diabetes”.
None
Elisa Danese
None
Giuseppe Lippi

References

    1. Tong N. Priority Diseases and Reasons for Inclusion. In: Priority Medicines for Europe and the World 2013 Update. World Health Organization Publisher, Geneva, Switzerland, 2013.
    1. Cervellin G, Comelli I, Lippi G. Is Google Trends a reliable tool for digital epidemiology? Insights from different clinical settings. J Epidemiol Glob Health 2017;7:185-9. 10.1016/j.jegh.2017.06.001 - DOI - PMC - PubMed
    1. Li CK. New trend in the epidemiology of thalassaemia. Best Pract Res Clin Obstet Gynaecol 2017;39:16-26. 10.1016/j.bpobgyn.2016.10.013 - DOI - PubMed
    1. Li D, Tian L, Hakonarson H. Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. Ann Transl Med 2018;6:126. 10.21037/atm.2018.01.14 - DOI - PMC - PubMed
    1. Lippi G, Plebani M. Biomarker research and leading causes of death worldwide: a rather feeble relationship. Clin Chem Lab Med 2013;51:1691-3. 10.1515/cclm-2013-0210 - DOI - PubMed