Lab Test May Identify Dangerous Gene Mutations

In New York Scientists have discovered a way to help determine if a specific genetic abnormality is cause for making people sick. These scientists used genetic engineering to create thousands of variations of genes that are linked to breast cancer. They tested each variation to see if it would show up in the subject as the disease. The genes were compared to the already known BRCA 1 gene. So, the focus is to identify variants in the BRCA1 gene's DNA code that prevent it from working. These mutations are thought to most likely increase the risk of ovarian and breast cancer. 

Researchers created 4,000 variants in the key sections of the BRCA 1 gene. When studying the results only 169 of the variants generated had shown up in the database as dangerous. The actual test only predicted 162 of these. To perform this study they applied CRISPR genome editing. This is a technology that allows researchers and scientists to alter human genes. Basically, it allows the researchers to make changes or edits to the genes being studied.

Overall, this study of gene editing and discovery of mutation is still in the beginning stages. They have found the relationship between the BRCA 1 gene which is tremendous, but they wish to go forward and expand further. I think if they can find connections between these genetic mutations in DNA and different diseases/ conditions, it would change how doctors diagnose and the timeline in which patients get their diagnosis. This allows hope for not only people who are predisposed to cancer, but it may be able to help with those who have genes linked to other diseases as well.