One-time genetic treatments are moving from rare diseases to common ones like high cholesterol. In JAMA Internal Medicine, two University of Michigan cardiologists explain why permanence, rare side effects and cost call for a new framework.

Hypophosphatasia (HPP), or "soft bone disease" is a rare genetic disorder that impacts bone and tooth development, leading to weak bones and other health complications. For years, enzyme replacement therapy has been the only effective treatment for HPP. This therapy involves injecting asfotase alfa, an enzyme that replaces the missing one in patients’ bodies. However, these injections must be given three to six times a week, which can be challenging for many patients. While t

Heart failure, which affects over 64 million people worldwide, is currently considered irreversible without a heart transplant. Researchers at the University of Utah have developed a gene therapy that could change this. Using minipigs as a model, scientists successfully reversed heart failure by delivering a therapeutic gene called cBIN1 directly into heart cells. The therapy, which targets a key protein often deficient in heart failure patients, resulted in significant recov

Gene therapy has shown promise in treating many genetic diseases, but some conditions, like muscular dystrophy, involve very large genes that are too big to be delivered using current methods. A new technology called StitchR has solved this problem and could offer a treatment option for these hard-to-treat conditions. Instead of trying to deliver the whole large gene at once, StitchR splits the gene into two smaller parts. These two parts are delivered separately into cells,

Imagine controlling genes with the precision of a light switch— controlling specific parts of the body as you will. That’s what the researchers at Yale, Jackson Laboratory, and the Broad Institute aimed to achieved with a new AI tool called CODA (Computational Optimization of DNA Activity). This newly designed AI tool creates custom DNA “switches” that control when and where genes turn on or off, which could greatly improve gene therapy. What is CODA? CODA is a groundbreaking

The AK-OTOF-101 clinical trial by Akouos, Inc., a subsidiary of Lilly & Co., brings renewed hope to children suffering from congenital deafness through innovative AAV-based gene therapy. This pioneering research is taking place at The Children's Hospital of Philadelphia, which is leading the charge in developing effective treatments for this challenging condition. The clinical trial utilizes adeno-associated virus (AAV) vectors to deliver the OTOF gene, which encodes the otof