Purchase of high performance flow electroporation system for genome engineering facility

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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"