I-Corps: A novel method to isolate and sequence mitochondrial DNA

这个I-Corps项目更广泛的影响/商业潜力包括个性化医疗和法医学领域。它将通过导致新的诊断应用对医学产生影响。这里正在开发的技术有助于准确确定线粒体基因组。线粒体功能的退化与帕金森病、阿尔茨海默病和其他几种神经系统疾病有关。 在法医学中，该技术可以根据来自头发样本的线粒体变异来识别个体。制药研发人员可以使用该技术来研究他们的药物的效果，以测量线粒体毒性。这个I-Corps项目进一步开发了一种新的方法，通过消耗线性核DNA来酶促纯化线粒体DNA（mtDNA），从而实现mtDNA的廉价测序。这种方法的一个主要好处是能够识别异质性，即同一个体中存在不同的线粒体基因组。每个人都有一定程度的异质性，准确测量这一点是识别疾病风险的关键。

The broader impact/commercial potential of this I-Corps project encompasses the area of personalized medicine and forensics. It will have an impact on medicine by leading to new diagnostic applications. The technology being developed here facilitates accurate determination of the mitochondrial genome. Degeneration of mitochondrial function has been implicated in Parkinson's disease, Alzheimer's disease and several other neurological disorders. In forensics, the technology could allow for identification of individuals based on mitochondrial variants derived from hair samples. Pharmaceutical R&D could use the technique to study the effects of their drugs to measure mitochondrial toxicity.This I-Corps project further develops a novel method that enzymatically purifies Mitochondrial DNA (mtDNA) by depleting linear nuclear DNA, enabling inexpensive sequencing of mtDNA. A major benefit of this method is the ability to identify heteroplasmy, which is the existence of different mitochondrial genomes in the same individual. Every person has some level of heteroplasmy, and measuring this accurately is the key to identifying risk of diseases.