Neurol. praxi. 2021;22(2):93-99 | DOI: 10.36290/neu.2021.029

Rare diseases and the Orphanet

MUDr. Gabriela Hrčková
Ambulancia lekárskej genetiky, Detská klinika LF UK a NÚDCH, Bratislava

The history of rare diseases (RDs) dates back to the Middle Ages. At that time, RDs were rather described as "uncommon" phenotypes, somatic or biochemical. "Strange" clinical pictures that were observed repeatedly were thought to have a hereditary component firstly in the 19th century. To date, approximately 6 000 different RDs are known, and although they occur individually in a small number of patients, they affect together 3.5-5.9 % population worldwide. Most of them are genetically determined and the rapid development of molecular diagnostic methods has accelerated the identification of pathogenic, disease-causing variants. Research has also moved towards personalized treatment of RDs. Orphanet is the most comprehensive information portal on RDs for professionals and patients, as well (www.orpha.net). It offers its updated content about RDs for 23 years. Additionally, it is a database of diagnostic and research laboratories, medical expert centers, research projects, patient organizations, registries, biobanks and orphan drugs.

Keywords: rare diseases, genetics, Orphanet.

Published: April 30, 2021  Show citation

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Hrčková G. Rare diseases and the Orphanet. Neurol. praxi. 2021;22(2):93-99. doi: 10.36290/neu.2021.029.
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