University of Exeter Medical School, Exeter, UK.
Exeter NIHR Clinical Research Facility, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
J Diabetes Res. 2018 Nov 27;2018:3061620. doi: 10.1155/2018/3061620. eCollection 2018.
Precision medicine, the concept that specific treatments can be targeted to groups of individuals with specific genetic, cellular, or molecular features, is a key aspect of modern healthcare, and its use is rapidly expanding. In diabetes, the application of precision medicine has been demonstrated in monogenic disease, where sulphonylureas are used to treat patients with neonatal diabetes due to mutations in ATP-dependent potassium (K) channel genes. However, diabetes is highly heterogeneous, both between and within polygenic and monogenic subtypes. Making the correct diagnosis and using the correct treatment from diagnosis can be challenging for clinicians, but it is crucial to prevent long-term morbidity and mortality. To facilitate precision medicine in diabetes, research is needed to develop a better understanding of disease heterogeneity and its impact on potential treatments for specific subtypes. Animal models have been used in diabetes research, but they are not translatable to humans in the majority of cases. Advances in molecular genetics and functional laboratory techniques and availability and sharing of large population data provide exciting opportunities for human studies. This review will map the key elements of future diabetes research in humans and its potential for clinical translation to promote precision medicine in all diabetes subtypes.
精准医学是一种将特定治疗方法针对具有特定遗传、细胞或分子特征的个体群体的概念,是现代医疗保健的一个关键方面,其应用正在迅速扩大。在糖尿病中,精准医学的应用已经在单基因疾病中得到证实,磺脲类药物用于治疗由于 ATP 依赖性钾 (K) 通道基因突变引起的新生儿糖尿病患者。然而,糖尿病在多基因和单基因亚型之间以及内部都具有高度异质性。对于临床医生来说,做出正确的诊断并从诊断开始使用正确的治疗方法可能具有挑战性,但这对于预防长期发病率和死亡率至关重要。为了促进糖尿病的精准医学,需要进行研究,以更好地了解疾病的异质性及其对特定亚型潜在治疗方法的影响。虽然动物模型已被用于糖尿病研究,但在大多数情况下,它们不能转化为人类。分子遗传学和功能实验室技术的进步以及大量人群数据的可用性和共享为人类研究提供了令人兴奋的机会。这篇综述将绘制未来人类糖尿病研究的关键要素及其在促进所有糖尿病亚型精准医学方面的临床转化潜力。