An illustrative image released by the Egyptian cabinet showing a DNA structure.
The study, part of the Egypt Genome Project (EGP1K), addresses a long-standing gap in global genetic research, where Middle Eastern and North African populations remain vastly underrepresented despite their size.
Scientists said the findings could change how diseases are diagnosed and treated in Egypt, laying the groundwork for more personalized healthcare based on the population’s genetic profile.
The research identified more than 51 million genetic variants overall, with about one-third not found in international databases, highlighting how little Egyptian genetic diversity has been included in global data.
This lack of representation has limited the accuracy of widely used medical models, many of which are based mainly on European populations.
One of the study’s most important findings is the identification of a distinct Egyptian genetic profile.
While Egyptians share about 71.8 percent of their ancestry with Middle Eastern populations, they also have an 18.5 percent Egypt-specific component linked to North African origins, setting them apart from neighbouring groups.
Researchers said this helps explain why Egyptians may respond differently to diseases and medications compared with other populations.
The impact on healthcare could be significant. When researchers applied genetic risk models developed for Europeans to the Egyptian sample, they found major distortions: over 83 percent of participants were classified as high risk for stroke, 76 percent for chronic kidney disease, and nearly 73 percent for gout, far above the expected 10 percent threshold.
Scientists said this reflects poorly calibrated models rather than actual disease rates, highlighting the risks of relying on data that does not represent the population.
“These findings show that global medical standards cannot simply be applied to all populations,” the study said, calling for genetic risk tools to be adjusted for specific populations.
The research also provides insight into inherited diseases in Egypt. It found that 9.1 percent of participants carried mutations linked to Familial Mediterranean Fever (MEFV), one of the highest rates observed. This could mean around 6,600 affected births each year when adjusted for national rates of consanguineous marriage. Other notable carrier rates included cystic fibrosis, beta-thalassemia, and genetic forms of hearing loss.
Regional differences were also clear. Upper Egypt showed significantly higher levels of genetic similarity between parents, linked to consanguineous marriages, indicating a greater burden of inherited recessive disorders in those areas. Researchers said this could help guide targeted screening and genetic counselling programmes.
Egypt’s location at the crossroads of Africa, Asia, and Europe is reflected in its genetic makeup. The study found Egyptians are genetically closest to populations in the Arabian Peninsula, while still maintaining distinct North African characteristics.
Scientists involved in the project said the dataset provides the first robust national reference for Egypt and could support a shift toward precision medicine, in which treatments are tailored to individual genetic profiles rather than broad population averages.
The study, published as a preprint and not yet peer-reviewed, is expected to expand in future phases to include more participants and deeper analysis.
Researchers said this will be essential for building a comprehensive national database and ensuring Egypt is better represented in global biomedical research.
By filling a major data gap, the project positions Egypt to play a larger role in shaping the future of genomic medicine, both regionally and globally.
Egypt, with a population exceeding 100 million and a strategic geographic position linking Africa, Asia, and Europe, has been one of the largest underrepresented populations in this field.
Previous efforts to map Egyptian genetics were limited in scale, including an earlier reference genome based on just over 100 individuals, leaving major gaps in understanding genetic variation across the population.
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