Rare diseases remain a significant health burden in Middle Eastern countries and globally. The relatively higher prevalence of marriages between close relatives in the Middle East region has increased the incidence of genetic disorders. This has been further complicated by poor access to genetic centers. To address this issue, a study conducted by a reputed children’s hospital in Dubai evaluated the current status of diagnostic care in the Middle East, North Africa, and Asian countries.
Study details 1000 patients were recruited from 47 countries in the Middle East, North Africa, Europe, and Asia. Peripheral blood sampling and exome sequencing were carried out. Variants with <0.5% allele frequency (for novel sequences) and <1% frequency (for those present in the disease databases) were selected for detailed analysis. Sequencing studies involved chromosomal microarrays and PCR-based…
