KACST, Riyadh, Saudi Arabia,
Front Biosci (Landmark Ed). 2019 Mar 1;24(5):870-889. doi: 10.2741/4757.
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.
由于家庭规模大且近亲结婚率高，先天性和遗传性疾病在阿拉伯国家导致许多疾病。沙特阿拉伯（SA）是中东国家中近亲结婚率最高的国家（约占所有婚姻的 60%），也是遗传疾病负担最重的国家。遗传疾病可能危及生命，通常在生命早期表现出来。大约 8%的 SA 出生儿受到影响，而更常见的遗传疾病，如代谢疾病和癌症，在多达 20%的人群中在生命后期表现出来。这对 SA 医院构成了巨大的医疗负担。人类群体中的遗传疾病数量在 7000 到 8000 之间，其中超过 3000 种是由未知突变引起的。2013 年，沙特阿拉伯启动了沙特人类基因组计划（SHGP），旨在对超过 100,000 个人类基因组进行测序，旨在通过精准治疗来确定发现、预防、诊断和治疗遗传疾病的策略。利用下一代测序（NGS）的高科技基因组学和信息学为基础的中心现在已经确定了许多原因不明疾病的突变基础。
