Purchase of high performance flow electroporation system for genome engineering facility

正确诊断遗传病对患者及其家属非常重要。由于基因组测序技术的进步，医生现在能够列出患者基因组中存在的所有突变，但解释这些突变很困难。在这个项目中，我们将进行实验，系统地研究一些疾病相关基因突变的影响，包括数千种尚未在患者身上观察到的突变，但将来可能会被观察到。我们将研究与血钙和葡萄糖含量、神经系统疾病、胚胎面部特征发育和癌症相关的基因。研究这些基因的突变是一个漫长的过程，包括利用电场将DNA转移到培养细胞中，这个过程被称为“电穿孔”。MRC资助的设备将大大提高电穿孔的效率，这将增加我们可以研究的突变的数量，以及测量的准确性。了解突变的影响将有助于诊断，也可能有助于根据患者携带的突变类型选择合适的药物——这一目标被称为“精准医学”。

Proper diagnosis of genetic diseases is very important for patients and their families. Thanks to advances in genome sequencing, doctors are now able to list all the mutations present in a patient's genome - but the interpretation of these mutations is difficult. In this project, we will perform experiments to systematically study the effects of mutations in a number of disease-associated genes - including thousands of mutations that have not yet been observed in a patient, but are likely to be observed in the future. We will study genes associated with blood calcium and glucose content, neurological disease, development of facial features in the embryo, and cancer. Studying mutations in these genes is a lengthy process that includes the transfer the DNA into cultured cells using an electric field, in a process called "electroporation". The equipment funded by the MRC will greatly enhance the efficiency of electroporation, which will increase the number of mutations we can study, as well as the accuracy of measurements. The knowledge of the effects of mutations will facilitate diagnosis, and it may also help select the appropriate drug depending on the type of mutation carried by the patient - a goal known as "precision medicine"