The human genome might be mapped, but there are still many spots that say “Here be Dragons,” especially when you try to determine if variants found in genetic sequencing will lead to diseases.

However, a novel study from the Stanford Cardiovascular Institute has found a way to narrow down genetic “variants of uncertain significance” to find out just what kind of health problems they can cause, by using induced pluripotent stem cells.

WHAT ARE PLURIPOTENT STEM CELLS AND IPSCS?

Pluripotent stem cells are the most dynamic types of stem cells, capable of differentiating into cells of any the body’s three layers (ectoderm, ectoderm, and mesoderm). However, the cost to this flexibility is that they are also the least numerous form of stem cells, primarily found in embryos.

However, the solution scientists have come up with to deal with this issue in recent years are induced pluripotent stem cells, or iPSCs. Induced pluripotent stem cells are adult stem cells that are artificially regressed back into a pluripotent state.

GENE EDITING WITH IPSCS

What do iPSCs mean for predicting disease though? The Stanford scientists lead by Dr. Joseph Wu combined iPSCs from patients with a gene editing tool called CRISPR Cas9 in order to force them to grow and see if they came up irregular or dangerous because of the genetic variants found in the DNA sequence.

Essentially, instead of waiting for a patient to grow old and start exhibiting signs of illness or defect, they pressed fast-forward using IPSCs to simulate the development of the 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,” Wu told CNN. “Here, we now have a way to shorten that time because we can generate patients’ induced pluripotent stem cells from blood.”

PLURI(IM)POTENT STEM CELLS?

As wonderful as this process sounds, there are still notable drawbacks. For one thing, developing IPSCs in a lab might be faster than waiting for diseases to develop in a living adult, but the process still took six months of highly skilled researchers working around the clock, to say nothing of the study’s $10,000 price tag.

Another issue is that the gene editing process itself might make errors that cause the iPSCs to grow in unwanted ways, thus not being a true reflection of the patient’s development.

Nonetheless, Dr. Wu is confident that their new process still fills a gap that was previously unbridgeable.

“Keep in mind that six months is actually still much better than the current alternative that we have,” he said. “Which is to tell patients that we don’t know what the variant means.”

There’s no prediction work when it comes to our stem cell therapies, PRP injections, or regenerative medicines. Our stem cell treatments are backed by science, and proven to relieve chronic pain from sports, activities, or everyday life. Get in touch with one of our clinics today for a consultation or to schedule an appointment.