A brief insight into the rare diseases in Egypt

Rare diseases (RDs) are a group of lifetime incapacitating or fatal diseases affecting nearly 3.5–5.9% of the global population, reaching 263–446 million individuals. RDs possess a genotypic-phenotypic pleiotropic nature so that the same disease can manifest with different outcomes. This renders definitive diagnosis challenging and thus hinders providing appropriate treatment, if available. Since 80% of rare diseases have a genetic origin, evolution in genetic diagnosis owing to the NGS has widely contributed to proper diagnosis and hence facilitating the future implementation of precision medicine. Currently, treatments covering less than 3% of rare diseases are US Food and Drug Administration (FDA) approved. Besides, RDs have a very high economic burden. This review sheds the light on Egyptian achievements and efforts in the field of rare diseases to prioritize the rare genomic diseases to be studied in Egypt. This will grab the attention towards conducting further studies that target Egyptians, to include the under-recognized populations potentially affected.