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Orphaned diseases

Abstract:

According to the Online Mendelian Inheritance in Man (OMIM), currently around 10,000 genetic diseases have been discovered, also known as orphan diseases, which affect approximately 7% of the world population according to data from the World Health Organization, a percentage that is equivalent to around 500 million people. Congenital anoma-lies or congenital disorders affect 1 in 33 live newborns and cause 3.2 million disabilities a year worldwide and are the second leading cause of death in children younger than 28 days old, the most frequent being Down syndrome, neural tube defects, and heart abnormalities. In Ecuador, there is little epidemiological information on the prevalence of genetic diseases that affect our population, so the following review evaluates the epidemiological information that serves as the basis for future research in the field of genetics in order to establish intervention strategies, control, counseling, and gene therapy in order to make the management of these patients more effective.