IMR Press / FBL / Volume 24 / Issue 5 / DOI: 10.2741/4757

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Review
Precsion medicine of monogenic disorders: Lessons learned from the Saudi human genome
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1 Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia
2 Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
*Correspondence: malthagafi@kacst.edu.sa (Malak Abedalthagafi)
Front. Biosci. (Landmark Ed) 2019, 24(5), 870–889; https://doi.org/10.2741/4757
Published: 1 March 2019
Abstract

Congenital and genetic disorders cause many diseases in Arab countries due to large family sizes and high levels of inbreeding. Saudi Arabia (SA) has the highest consanguinity rates among Middle Eastern countries (~60% of all marriages) and is burdened by the highest number of genetic diseases. Genetic diseases can be life-threatening, often manifesting early in life. Approximately 8% of births in SA are affected, and more common genetic diseases, such as metabolic disease and cancer, manifest later in life in up to 20% of the population. This represents a massive healthcare burden to SA hospitals. The number of genetic disorders in the human population ranges from 7000 to 8000, over 3000 of which are caused by unknown mutations. In 2013, SA initiated the Saudi Human Genome Program (SHGP), which aims to sequence over 100,000 human genomes, with the goal of identifying strategies to discover, prevent, diagnose and treat genetic disorders through precision therapy. High-technology genomics and informatic-based centers that exploit next-generation sequencing (NGS) have now identified mutations underlying many unexplained diseases.

Keywords
Genetics
Congenital
Consanguinity
Saudi human genome project
Precision medicine
NGS
Review
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