There are roughly 135 genes associated with cardiomyopathy and congenital heart conditions that can potentially cause sudden death, reports FierceBiotech. However, variants of the genes can be classified a variety of ways. The two most common methods are either benign or disease-causing. However, there are also variants of “uncertain significance” making the use of genetic screening very difficult.
According to FierceBiotech, a team of scientists at the Stanford University Cardiovascular Institute created a new risk-assessment tool that combines CRISPR-Cas9 gene editing technology with disease modeling techniques. By doing this, scientists can model the patient’s heart in the lab and therefore test whether or not there are cardiac cells showing signs of disease, according to the American Heart Association.
To begin the project, researchers collected DNA from 54 healthy people and sequenced the samples for the genes that are known to be associated with cardiac death. Within the sequences they found 592 unique variants. The research team zeroed in on the gene MYL3, which is linked to hypertrophic cardiomyopathy, and used the CRISPR technique to identify the variants of MYL3.1
The new technique “revolves around cells called peripheral blood mononuclear cells”. The team of researchers collected the blood cells from one of the participants then transformed them into induced pluripotent stem cells (iPSCs). To combine the two techniques, the researchers used CRISPR to edit the iPSCs, which created four distinct stem cell lines. Each cell line was analyzed to determine which variation could cause hypertrophic cardiomyopathy.
Previously, CRISPR-Cas9 generated excitement due to its potential of the technology to treat inherited disease. Now, however, there is more interest in using the technology of diagnostic of disease as well.
If the new risk-assessment tool is successful it could be a huge win for cardiologists who previously struggled to advise patients facing a risk of cardiac disease. Doctors would be able to reserve drug treatments or surgery to those who do not have hypertrophic cardiomyopathy.
Pearl Pathways’ dedicated clinical team includes experts in the fields of medical practice, science, ethics, and clinical research. Our vision is to improve the clinical research process, thereby delivering new therapeutics and diagnostics to patients sooner. Averaging two decades of experience in the roles, our staff delivers comprehensive solutions to assist in the planning and execution of clinical research for institutions, sponsors, CROs, and more. To learn more, please see our full list of clinical services.
1https://www.fiercebiotech.com/using-crispr-to-predict-heart-disease-risk