Abstract：
Rare diseases, defined by their low prevalence, present significant challenges, including delayed detection, expensive treatments, and limited research. This study delves into the genetic basis of two noteworthy rare diseases in Saudi Arabia: Phenylketonuria (PKU) and Spinal Muscular Atrophy (SMA). PKU, resulting from mutations in the phenylalanine hydroxylase (PAH) gene, exhibits geographical variability and impacts intellectual abilities. SMA, characterized by motor neuron loss, is linked to mutations in the survival of motor neuron 1 (SMN1) gene. Recognizing the importance of unveiling signature genomics in rare diseases, we conducted a quantitative study on PAH and SMN1 proteins of multiple organisms by employing various quantitative techniques to assess genetic variations. The derived signature-genomics contributes to a deeper understanding of these critical genes, paving the way for enhanced diagnostics for disorders associated with PAH and SMN1.
摘要：
罕见疾病,由他们的低患病率定义，面临重大挑战，包括延迟检测，昂贵的治疗方法,有限的研究。这项研究探讨了沙特阿拉伯两种值得注意的罕见疾病的遗传基础：苯丙酮尿症（PKU）和脊髓性肌萎缩症（SMA）。PKU,由苯丙氨酸羟化酶（PAH）基因突变引起，表现出地理变异性并影响智力能力。SMA,以运动神经元丢失为特征，与运动神经元1（SMN1）基因的存活突变有关。认识到在罕见疾病中揭示特征基因组学的重要性，我们通过使用各种定量技术评估遗传变异，对多种生物的PAH和SMN1蛋白进行了定量研究。衍生的签名基因组学有助于更深入地了解这些关键基因，为增强与PAH和SMN1相关的疾病诊断铺平了道路。
