In our human genome, there are many elusive genetic variants related to medical conditions, but the impact of these variants to actually cause a disease has not been conclusively determined — or ruled out.
In other words, the impact certain variants could have on your health remains a guessing game.
But a new study involving the gene-editing tool CRISPR could change that.
The study, published in the journal Circulation on [June 18], demonstrates for the first time how pairing CRISPR with induced pluripotent stem cell technology could be used to determine the risk of a genetic variant for cardiovascular disease.
“Patients often ask us what do these variants of uncertain significance mean. But in reality, we don’t know most of the time ourselves. So we end up having to follow the patients for the next five, 10, 20, or 30 years to see if the patient manifests the disease or not,” [researcher Joseph] Wu said.
“Here, we now have a way to shorten that time because we can generate patients’ induced pluripotent stem cells from blood.”
If the heart cells look abnormal, that probably means the variant of uncertain significance is pathogenic, meaning it’s capable of causing disease.
If the heart cells look normal, that probably means the variant of uncertain significance is actually benign.
Read full, original post: Scientists edit heart muscle gene in stem cells, may be able to predict risk