• Science Saturday: Potential and pitfalls of gene therapy

DNA helix on the colored background. 3D illustrationResearch is advancing gene therapy as a possible treatment or eventual cure for genetic diseases that bedevil modern science. Gene therapy was conceived over 20 years ago, and until recently, remained largely in the research lab. But gene therapy products are now beginning to be approved by the U.S. Food and Drug Administration for clinical care. Physician-scientists are intrigued with exploring its possibilities for transforming medical practice.

Gene therapy seeks to target faulty genes that are driving disease and either correct or replace them. Imagine your entire genome as an electric master board that controls physical characteristics and bodily functions. A genomic variant would be the burned out fuse causing the body to malfunction. Gene therapy would target the defective fuse and either replace it or add a new fuse to get everything functioning correctly.

Mayo’s research

As an example of the potential, David Deyle, M.D., of the Mayo Clinic Department of Clinical Genomics and Center for Individualized Medicine Clinomics Program, is using gene therapy in his research into possible treatments for osteogenesis imperfecta, also known as brittle bone disease. People with this devastating rare genetic disorder suffer with bones that break easily and often. Caused by a defect in the protein known as collagen, brittle bone disease has no cure.

“My research has shown that when we conduct gene targeting, we can take cells from patients, correct the gene so the cells produce normal collagen. In brittle bone disease, collagen is abnormal and the bones do not function appropriately. But, if we use this virus to target and correct the gene, we can generate cells that produce normal collagen,” says Dr. Deyle. “It may not change every cell in the body, but it might have the potential to one day improve quality of life for these patients.” Read the rest of the article on the Individualized Medicine blog.

Other Mayo Clinic medical research websites:

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