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Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity

机译:适用于糖尿病的精准医学的未来路线图:应对异质性的挑战

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摘要

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 (KATP) 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.
机译:精确医学是现代医疗的一个关键方面,即特定治疗可以针对具有特定遗传,细胞或分子特征的个体人群的概念,并且它的用途正在迅速扩展。在糖尿病中,已经在单基因疾病中证明了精准医学的应用,在该疾病中,由于ATP依赖性钾(KATP)通道基因的突变,磺脲类药物被用于治疗新生儿糖尿病患者。然而,在多基因和单基因亚型之间和之内,糖尿病是高度异质的。对临床医生来说,做出正确的诊断并使用正确的治疗方法可能是具有挑战性的,但是对于防止长期发病和死亡至关重要。为了促进糖尿病精密医学的发展,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的潜在治疗方法的影响。动物模型已用于糖尿病研究,但在大多数情况下,它们无法翻译为人类。分子遗传学和功能实验室技术的进步以及大量人口数据的可用性和共享为人类研究提供了令人兴奋的机会。这篇综述将勾勒出人类未来糖尿病研究的关键要素,以及其在临床翻译中推广所有糖尿病亚型的精准医学的潜力。

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