![]() ![]() Ackerman's lab, and William Gendron, then a graduate student in the lab of Michael Barry, Ph.D., envisioned a possible solution with an ingenious two-part strategy known as suppression and replacement, or SupRep. student in the Mayo Clinic Graduate School of Biomedical Sciences working in Dr. In addition, simply adding in a normal copy of the gene won't work either, as many of these long QT syndrome-causative variants have a dominant negative effect ― meaning the defective version of the gene would block any positive effects exerted by a normal version.įour years ago, Steven Dotzler, then a M.D.-Ph.D. "You can't edit each and every one of them," says Dr. The CRISPR/Cas9 gene-editing technology being used to correct a single genetic typo in conditions such as sickle cell disease would not be practical for long QT syndrome, which is caused by thousands of variants. Ackerman says fixing this defect is not straightforward. When the channels don't work like they should, the heart takes longer to recharge between beats. The condition results from a defect in the ion channels that control the flow of electrically charged particles, such as potassium and sodium, that power the heart. Ackerman leads Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic and Sudden Death Genomics Laboratory.Īn estimated 1 in 2,000 people have long QT syndrome, which if left untreated kills nearly half of its highest risk patients within 10 years of diagnosis. But first, the researchers must prove their gene therapy's worth in laboratory experiments, animal testing and human trials.ĭr. If they are successful, gene therapy could have an even greater impact on human health than previously imagined. They are looking beyond simply saving lives to improving the quality of life for people dealing with heart disease, liver disease and arthritis. Ackerman is part of a cadre of researchers at Mayo Clinic who are pushing the limits of what is possible with gene therapy. His laboratory is involved in early research to develop a gene therapy that could forever fix the genetic defects that cause chaotic, life-threatening heartbeats.ĭr. But the treatments come with a slew of unwanted side effects, and Dr. 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. 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. He wondered if the boy had a heart rhythm condition called long QT syndrome that could have caused him to faint while swimming. 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. To resuscitate the boy, first responders delivered a lifesaving shock from an automatic external defibrillator to his chest poolside. 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.
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