Egypt has identified more than 17 million previously undocumented genetic variants in its first large-scale genome study, according to findings from the Egypt Genome Project published on 6 April.
The research, which analysed 1,024 individuals across 21 governorates, marks a major step toward understanding the genetic makeup of Egyptians, an area that has long been underrepresented in global research.
Scientists say the findings could reshape how diseases are diagnosed and treated in Egypt, as many existing medical models are based largely on European populations and may not accurately reflect local genetic differences.
The study identified more than 51 million genetic variants in total, with around one-third not found in international databases, highlighting gaps in global genetic data.
Researchers also found that Egyptians have a distinct genetic profile, combining shared Middle Eastern ancestry with a unique North African component.
This distinction may help explain differences in how certain diseases appear and how patients respond to treatment.
When international risk models were applied to the sample, results showed unusually high risk levels for several conditions, something researchers say reflects limitations in those models rather than actual disease rates.
The findings also pointed to relatively high carrier rates for some inherited conditions, including Familial Mediterranean Fever, as well as regional variations linked to consanguineous marriages.
Experts say the data could support more targeted screening programmes and help move Egypt toward more personalised healthcare.
The study, currently published as a preprint, is expected to expand in future phases as part of efforts to build a comprehensive national genetic database.
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