本文選題：罕見(jiàn)病　切入點(diǎn)：診斷技術(shù)　出處：《科技導(dǎo)報(bào)》2017年16期 　論文類型：期刊論文

【摘要】：罕見(jiàn)病大多數(shù)是遺傳性疾病,其發(fā)病率低,種類繁多且表型復(fù)雜多樣,導(dǎo)致臨床上難以進(jìn)行及時(shí)和準(zhǔn)確的診斷。隨著分子遺傳學(xué)、分子診斷技術(shù)、基因測(cè)序技術(shù)及組學(xué)技術(shù)的進(jìn)步,罕見(jiàn)病診斷取得了重大發(fā)展。在傳統(tǒng)基因檢測(cè)技術(shù)基礎(chǔ)上,二代測(cè)序技術(shù)迅速發(fā)展并廣泛應(yīng)用于罕見(jiàn)病的診斷和研究中,三代測(cè)序技術(shù)也展示出潛在應(yīng)用價(jià)值。雖然傳統(tǒng)的酶學(xué)檢測(cè)技術(shù)仍占有重要地位,但已不能滿足罕見(jiàn)病診斷的需求;蛋白質(zhì)組學(xué)、代謝組學(xué)的崛起,使多種罕見(jiàn)病的準(zhǔn)確診斷成為可能。同時(shí)結(jié)合分子影像技術(shù)和生物信息技術(shù),計(jì)算機(jī)輔助診斷也展現(xiàn)出了廣泛的應(yīng)用前景。
[Abstract]:Rare diseases are mostly hereditary diseases, with a low incidence, a wide variety of phenotypes and complex phenotypes, which make it difficult to make timely and accurate diagnosis clinically. With the development of gene sequencing and genomics techniques, the diagnosis of rare diseases has made great progress. Based on the traditional gene detection technology, the second generation sequencing technology has been developed rapidly and widely used in the diagnosis and research of rare diseases. The third generation sequencing technology also shows the potential application value. Although the traditional enzymatic detection technology still plays an important role, it can no longer meet the needs of diagnosis of rare diseases; the rise of proteomics and metabolomics, It is possible to diagnose many rare diseases accurately. At the same time, computer aided diagnosis (CAD), combined with molecular imaging technology and bioinformatics technology, has shown a wide range of application prospects.
【作者單位】： 中國(guó)醫(yī)學(xué)科學(xué)院罕見(jiàn)病研究中心;中國(guó)醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)院中心實(shí)驗(yàn)室;中國(guó)醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)院臨床遺傳學(xué)實(shí)驗(yàn)室;
【基金】：國(guó)家重點(diǎn)研發(fā)計(jì)劃項(xiàng)目(2016YFC0901500) 上海市出生缺陷防治重點(diǎn)實(shí)驗(yàn)室開(kāi)放課題基金(16DZKF1007) 國(guó)家衛(wèi)生計(jì)生委2016年信息化與統(tǒng)計(jì)項(xiàng)目
【分類號(hào)】：R597

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