Clinical and Experimental Pediatrics

Review Article

Genetics and Metabolism

Development of orphan drugs for rare diseases

Han-Wook Yoo

Clin Exp Pediatr. 2024;67(7):315-327. Published online June 28, 2023

· Orphan disease is a rare disease, primarily affecting newborn and children. Vast majority of orphan diseases has genetic background.
· Orphan disease is individually rare. But as a whole, it is not rare, becoming a great socioeconomic burden.
· The diagnosis of rare genetic disease has been problematic, but recent progress of genome analysis technologies makes it faster and more precise.
· There are many unmet needs as to the curative treatment. However, the number of treatable rare diseases is growingly increasing owing to the development of biotechnology.
· Most orphan drugs are extremely expensive because of numer ous hurdles during the process of drug development as well as small number of patients.

DOI: https://doi.org/10.3345/cep.2023.00535

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