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Clinical Genomics in Inflammatory Bowel Disease
Trends in Genetics ( IF 11.4 ) Pub Date : 2017-07-26 , DOI: 10.1016/j.tig.2017.06.008
Holm H. Uhlig , Aleixo M. Muise

Genomic technologies inform the complex genetic basis of polygenic inflammatory bowel disease (IBD) as well as Mendelian disease-associated IBD. Aiming to diagnose patients that present with extreme phenotypes due to monogenic forms of IBD, genomics has progressed from ‘orphan disease’ research towards an integrated standard of clinical care. Advances in diagnostic clinical genomics are increasingly complemented by pathway-specific therapies that aim to correct the consequences of genetic defects. This highlights the exceptional potential for personalized precision medicine. IBD is nevertheless a challenging example for genomic medicine because the overall fraction of patients with Mendelian defects is low, the number of potential candidate genes is high, and interventional evidence is still emerging. We discuss requirements and prospects of explanatory and predictive clinical genomics in IBD.



中文翻译:

炎性肠病的临床基因组学

基因组技术为多基因炎症性肠病(IBD)和孟德尔疾病相关的IBD提供了复杂的遗传基础。为了诊断由于单基因形式的IBD而表现出极端表型的患者,基因组学已从“孤儿病”研究发展为临床护理的综合标准。诊断性临床基因组学的进展越来越多地被旨在纠正遗传缺陷后果的途径特异性疗法所补充。这凸显了个性化精准医学的巨大潜力。但是,IBD对于基因组医学来说是一个具有挑战性的例子,因为孟德尔缺陷患者的总体比例较低,潜在候选基因的数量较高,并且介入证据仍在不断涌现。

更新日期:2017-07-26
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