Research recently published in Nature describes how scientists edited the genes in a human embryo. Scientists sought to remove a specific genetic mutation, the MYBPC3 mutation, which has been associated with the development of hypertrophic cardiomyopathy.
In hypertrophic cardiomyopathy, the myocardium heart muscle grows abnormally thick which makes it more difficult for the heart to pump blood. Hypertrophic cardiomyopathy is frequently asymptomatic, but can also cause chest pain, lightheartedness, and palpitations and is the most common cause of sudden death in people under 30 and competitive athletes.
You can read more about this research in a New York Times news article as well as in the original research by primary authors Hong Ma, Nuria Marti-Gutierrez, Sang-Wook Park, and Jun Wu.
Dr. Charles Macri’s online Genetics Journal Club can help you connect to new genetics research with new articles posted monthly.