TJU Scientists Correct Genetic Mutation That Leads to Sickle Cell Anemia

Genetics researchers at Thomas Jefferson University have demonstrated a new gene repair technology that holds promise as a treatment for sickle cell anemia and diseases with a similar genetic make-up. Researchers led by Eric Kmiec, PhD, Jefferson Medical College Associate Professor of Biochemistry and Molecular Pharmacology, report that therapeutic sequences of genes, called chimeraplasts, corrected the mutation that causes sickle cell anemia in 10 to 20 percent of the blood cells drawn from one patient. The study was published in the September 6, 1996, issue of Science.

Sickle cell anemia affects more than 50,000 in this country, most of whom are African American. According to Dr. Kmiec, "gene repair" can potentially alleviate the pain and help to prevent organ damage in those with the disease. The technology may be effective in treating other genetic diseases, too, such as cystic fibrosis and Gaucher's Disease. Dr. Kmiec's research team includes scientists from Jefferson's Kimmel Cancer Center, Cooper Medical Center, and Cornell University School of Medicine.