U.S. scientists in July edited the DNA of a human embryo. It’s a first, it’s just the beginning and could someday mean the end of children born with hypertrophic cardiomyopathy. Imagine wiping out sudden cardiac death in young athletes someday.
The research at the Oregon Health and Science University focused on 58 human embryos that were not going to be implanted. Of the 58 embryos fertilized with sperm containing MYBPC3, the gene mutation for cardiomyopathy, 42 were successfully modified to contain two normal copies of the gene. The study was published in Nature.
CRISPR is the tool that allows scientists to program a protein to change specific sequences of DNA within a cell. It can target specific areas of genetic code and edit DNA. In this case it was used to erase the genetic mutation that causes hypertrophic cardiomyopathy in human embryos. The potential is incredible, not in creating designer babies but rather creating healthy babies.
So fast forward ahead many years to the quest for a better measure of frailty late in life—and trying to predict good outcomes post surgical aortic valve replacement (SAVR) or transcatheter aortic valve replacement (TAVR). The Essential Frailty Toolset (EFT) now stands out among six other scales for its ability to predict mortality 30 days after SAVR or TAVR, according to a study published in JACC in August.
The team at McGill University in Montreal compared seven scales: Fried, Fried+ Rockwood, Short Physical Performance Battery, Bern, Columbia and Essential Frailty Test (EFT). They looked at 1,020 adults with a median age of 82 years. The prevalence of frailty, as measured by the various scales, ranged from 26 percent to 68 percent.
The EFT had the most predictive value for worsening disability at one year post operatively and for death at 30 days. As the reseachers said, “The time and resources required to administer the EFT are minimal and its components can be intervened upon before or after the procedure to optimize outcomes.”
New tools in the toolbox can potentially help patients cradle to grave. Take a deeper look in this issue.
Mary joined TriMed Media in 2003. She was the founding editor and editorial director of Health Imaging, Cardiovascular Business, Molecular Imaging Insight and CMIO, now known as Clinical Innovation + Technology. Prior to TriMed, Mary was the editorial director of HealthTech Publishing Company, where she had worked since 1991. While there, she oversaw four magazines and related online media, and piloted the launch of two magazines and websites. Mary holds a master’s in journalism from Syracuse University. She lives in East Greenwich, R.I., and when not working, she is usually running around after her family, taking photos or cooking.