Studying rare conditions poses unique challenges due to the limited number of cases, which can hinder the ability to conduct large-scale epidemiological studies. Researchers often rely on case reports, case series, and small cohort studies. Patient registries and biobanks are invaluable resources for collecting and analyzing data on rare conditions. Advances in genomics and bioinformatics have also facilitated the study of these diseases by enabling the identification of genetic and molecular markers associated with rare conditions.
