Saudi Human Genome Program – Towards Identification, Characterization and Prevention of Rare Diseases


Studying the genetic makeup of a population is a powerful tool for healthcare systems. For rare Mendelian diseases it offers the opportunity to identify underlying mutations, providing future opportunities for diagnosis, carrier screening, pre-natal testing and disease prevention. The Saudi Human Genome Program (SHGP) is a national project that has and will continue to contribute strongly, to the understanding of both health and disease, firstly in the Saudi population, but also in the general understanding of both rare and common diseases. It will enhance current approaches to both the diagnosis and treatment of disease, and establish a foundation for “Precision Medicine” in the Arab world and beyond.

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