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.