• Science Saturday: Pushing the Limits of Gene Therapy

cardiogram reading on paper strip

Nearly 25 years ago, a 10-year-old boy was admitted to Mayo Clinic Children's Center after being rescued from the bottom of a public pool. To resuscitate the boy, first responders delivered a lifesaving shock from an automatic external defibrillator to his chest poolside. Michael Ackerman, M.D., Ph.D., a pediatric resident at the time, recalls thinking that most children in a near-drowning situation do not require an electric shock to revive them. He wondered if the boy had a heart rhythm condition called long QT syndrome that could have caused him to faint while swimming.

In the months and years since, Dr. Ackerman and his research team have identified the disease-causing variant in the boy and many of his family members, as well as thousands of others with this specific genetic heart disease. Advances in medicine, including beta-blockers, surgery and implantable defibrillators, have greatly reduced the risk of sudden cardiac death for people with long QT syndrome. But the treatments come with a slew of unwanted side effects, and Dr. Ackerman wants to do better. His laboratory is developing a gene therapy that could forever fix the genetic defects that cause chaotic, life-threatening heartbeats.

Dr. Ackerman is part of a cadre of researchers at Mayo Clinic who are pushing the limits of what is possible with gene therapy. They are looking beyond simply saving lives to improving the quality of life for people dealing with heart disease, liver disease and arthritis. If they are successful, gene therapy could have an even greater impact on human health than previously imagined. But first, the researchers must prove their gene therapy's worth in laboratory experiments, animal testing and human trials.

Read the rest of the article on Discovery's Edge.


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